[{"ddc":["570"],"language":[{"iso":"eng"}],"author":[{"last_name":"Tautz","first_name":"Diethard","full_name":"Tautz, Diethard"},{"first_name":"Luisa F","last_name":"Pallares","full_name":"Pallares, Luisa F"},{"full_name":"Andersson, Leif","last_name":"Andersson","first_name":"Leif"},{"full_name":"Barghi, Neda","first_name":"Neda","last_name":"Barghi"},{"full_name":"Barton, Nicholas H","id":"4880FE40-F248-11E8-B48F-1D18A9856A87","orcid":"0000-0002-8548-5240","last_name":"Barton","first_name":"Nicholas H"},{"full_name":"Bay, Rachael","last_name":"Bay","first_name":"Rachael"},{"first_name":"Yingguang Frank","last_name":"Chan","full_name":"Chan, Yingguang Frank"},{"last_name":"Hancock","first_name":"Angela","full_name":"Hancock, Angela"},{"full_name":"Kaiser, Tobias S","first_name":"Tobias S","last_name":"Kaiser"},{"last_name":"Koenig","first_name":"Daniel","full_name":"Koenig, Daniel"},{"full_name":"Kontarakis, Zacharias","last_name":"Kontarakis","first_name":"Zacharias"},{"full_name":"Liedvogel, Miriam","last_name":"Liedvogel","first_name":"Miriam"},{"full_name":"de Meaux, Juliette","last_name":"de Meaux","first_name":"Juliette"},{"full_name":"Nordborg, Magnus","last_name":"Nordborg","first_name":"Magnus"},{"first_name":"Abraham A","last_name":"Palmer","full_name":"Palmer, Abraham A"},{"full_name":"Purugganan, Michael","last_name":"Purugganan","first_name":"Michael"},{"first_name":"Christian","last_name":"Schlötterer","full_name":"Schlötterer, Christian"},{"full_name":"Schmid, Karl","last_name":"Schmid","first_name":"Karl"},{"full_name":"Stainier, Didier Y R","first_name":"Didier Y R","last_name":"Stainier"},{"last_name":"Weigel","first_name":"Detlef","full_name":"Weigel, Detlef"},{"full_name":"Wolf, Jochen B W","first_name":"Jochen B W","last_name":"Wolf"},{"last_name":"Ebert","first_name":"Dieter","full_name":"Ebert, Dieter"},{"full_name":"Gibson, Greg","last_name":"Gibson","first_name":"Greg"}],"file_date_updated":"2026-05-18T07:48:45Z","intvolume":"       232","publication_status":"published","oa":1,"file":[{"date_created":"2026-05-18T07:48:45Z","success":1,"file_id":"21890","creator":"dernst","checksum":"5a862c539f9dec4511277ad8927c549c","file_name":"2026_Genetics_Tautz.pdf","access_level":"open_access","file_size":542844,"date_updated":"2026-05-18T07:48:45Z","relation":"main_file","content_type":"application/pdf"}],"doi":"10.1093/genetics/iyag024","year":"2026","article_type":"original","date_created":"2026-05-07T08:53:40Z","day":"01","publication":"Genetics","OA_place":"publisher","pmid":1,"_id":"21841","user_id":"2DF688A6-F248-11E8-B48F-1D18A9856A87","department":[{"_id":"NiBa"}],"issue":"4","tmp":{"short":"CC BY (4.0)","name":"Creative Commons Attribution 4.0 International Public License (CC-BY 4.0)","image":"/images/cc_by.png","legal_code_url":"https://creativecommons.org/licenses/by/4.0/legalcode"},"has_accepted_license":"1","date_updated":"2026-05-18T07:51:26Z","quality_controlled":"1","external_id":{"pmid":["41701356"]},"month":"04","volume":232,"article_processing_charge":"Yes (in subscription journal)","date_published":"2026-04-01T00:00:00Z","acknowledgement":"We thank a variety of further colleagues for the many inspiring discussions on the nature of heredity, especially the workshops in Berlin. Special thanks also to the Stellenbosch Institute for Advanced Studies (STIAS) to provide DT the leisure and freedom to write up the first version of this perspective. Thanks also to three reviewers who have helped to improve the manuscript. Two dedicated symposia on the topic were funded by the Max-Planck Society.","title":"Beyond Mendel: A call to revisit the genotype–phenotype map through new experimental paradigms","PlanS_conform":"1","OA_type":"hybrid","status":"public","type":"journal_article","publication_identifier":{"eissn":["1943-2631"]},"article_number":"iyag024","keyword":["classic genetics","quantitative genetics","genotype–phenotype map"],"scopus_import":"1","abstract":[{"text":"The long-standing notion that genotypes map to phenotypes through simple one gene–one trait relationships continues to shape both research in the life sciences and public understanding, with implications for policy and funding priorities. Yet this paradigm is increasingly recognized as inadequate for explaining continuous phenotypic variation and the complex genetic architectures of the genotype–phenotype map. Modern genetics emerged from the early 20th-century synthesis of Mendelian and biometric schools of heredity, with R.A. Fisher demonstrating early on how multiple discrete loci could collectively produce continuous variation. Despite this fundamental insight, Mendelism—with its focus on single genes and standardized genetic backgrounds—became the dominant framework, shaping current genetics research and molecular biology as well as science education. The advent of large-scale genomic data has revealed yet again the limitations of this reductionist approach. Evidence from quantitative genetics now shows that most phenotypes arise from complex networks of many interdependent genes and their dynamic responses to environmental perturbations. Here we trace the historical roots of how Mendelian classical genetics departed from the biometric school to create the current predominant paradigm in genetics, despite fundamentally unresolved issues. Moving on from this one-sided paradigm will require systematic development of integrative, evolutionarily grounded experimental approaches that better capture the multigenic and context-dependent nature of inheritance. Achieving such an extended perspective will require methodological innovation, including advances in large-scale (e.g. automated) phenotyping. Dedicated research programs will be necessary to advance a new era of genetic research into the complex mechanisms underlying phenotypic variation.","lang":"eng"}],"citation":{"mla":"Tautz, Diethard, et al. “Beyond Mendel: A Call to Revisit the Genotype–Phenotype Map through New Experimental Paradigms.” <i>Genetics</i>, vol. 232, no. 4, iyag024, Oxford University Press, 2026, doi:<a href=\"https://doi.org/10.1093/genetics/iyag024\">10.1093/genetics/iyag024</a>.","short":"D. Tautz, L.F. Pallares, L. Andersson, N. Barghi, N.H. Barton, R. Bay, Y.F. Chan, A. Hancock, T.S. Kaiser, D. Koenig, Z. Kontarakis, M. Liedvogel, J. de Meaux, M. Nordborg, A.A. Palmer, M. Purugganan, C. Schlötterer, K. Schmid, D.Y.R. Stainier, D. Weigel, J.B.W. Wolf, D. Ebert, G. Gibson, Genetics 232 (2026).","ista":"Tautz D, Pallares LF, Andersson L, Barghi N, Barton NH, Bay R, Chan YF, Hancock A, Kaiser TS, Koenig D, Kontarakis Z, Liedvogel M, de Meaux J, Nordborg M, Palmer AA, Purugganan M, Schlötterer C, Schmid K, Stainier DYR, Weigel D, Wolf JBW, Ebert D, Gibson G. 2026. Beyond Mendel: A call to revisit the genotype–phenotype map through new experimental paradigms. Genetics. 232(4), iyag024.","apa":"Tautz, D., Pallares, L. F., Andersson, L., Barghi, N., Barton, N. H., Bay, R., … Gibson, G. (2026). Beyond Mendel: A call to revisit the genotype–phenotype map through new experimental paradigms. <i>Genetics</i>. Oxford University Press. <a href=\"https://doi.org/10.1093/genetics/iyag024\">https://doi.org/10.1093/genetics/iyag024</a>","chicago":"Tautz, Diethard, Luisa F Pallares, Leif Andersson, Neda Barghi, Nicholas H Barton, Rachael Bay, Yingguang Frank Chan, et al. “Beyond Mendel: A Call to Revisit the Genotype–Phenotype Map through New Experimental Paradigms.” <i>Genetics</i>. Oxford University Press, 2026. <a href=\"https://doi.org/10.1093/genetics/iyag024\">https://doi.org/10.1093/genetics/iyag024</a>.","ama":"Tautz D, Pallares LF, Andersson L, et al. Beyond Mendel: A call to revisit the genotype–phenotype map through new experimental paradigms. <i>Genetics</i>. 2026;232(4). doi:<a href=\"https://doi.org/10.1093/genetics/iyag024\">10.1093/genetics/iyag024</a>","ieee":"D. Tautz <i>et al.</i>, “Beyond Mendel: A call to revisit the genotype–phenotype map through new experimental paradigms,” <i>Genetics</i>, vol. 232, no. 4. Oxford University Press, 2026."},"oa_version":"Published Version","publisher":"Oxford University Press"},{"title":"A century of theories of balancing selection","article_processing_charge":"Yes (via OA deal)","date_published":"2026-04-01T00:00:00Z","isi":1,"acknowledgement":"We thank Brian Charlesworth, Deborah Charlesworth, and Sally Otto for extensive comments and suggestions. We also thank Göran Arnqvist, Adam Eyre-Walker, Philip Hedrick, Jitka Polechová, and Henrique Teotónio for further helpful comments on the manuscript. This work was supported by a H2020 Marie Skłodowska-Curie COFUND Action fellowship (#101034413, to F. R.), the Birgitta Sintring Foundation (#S2024-0007, to M. K. Z.), the Research Council of Norway (302619, to D. G.), the Alexander von Humboldt Foundation (to H. K.), the Swiss National Science Foundation (#211549, to X. L. R.), the Swedish Research Council (#2022-03603, to CO; #2020-03123, to E. I. S.) and the European Research Council (ERC-2023-STG-#101117517, to C. O.). We are particularly grateful to the European Society for Evolutionary Biology for funding a Special Topics Network workshop (to T. C., H. K., E. I. S.), from which this review began. Open Access funding provided by Institute of Science and Technology Austria/KEMÖ.","volume":101,"month":"04","external_id":{"isi":["001614285900001"],"pmid":["41235821 "]},"license":"https://creativecommons.org/licenses/by-nc/4.0/","quality_controlled":"1","date_updated":"2026-07-27T08:08:09Z","publisher":"Wiley","das_tickbox":"0","keyword":["evolutionary theory","population genetics","balancing selection","heterozygote advantage","trade-offs","negative frequency-dependent selection","fitness variation","mathematical modelling"],"article_number":"804-825","citation":{"apa":"Ruzicka, F., Zwoinska, M. K., Goedert, D., Kokko, H., Li Richter, X., Moodie, I. R., … Connallon, T. (2026). A century of theories of balancing selection. <i>Biological Reviews</i>. Wiley. <a href=\"https://doi.org/10.1111/brv.70103\">https://doi.org/10.1111/brv.70103</a>","chicago":"Ruzicka, Filip, Martyna K. Zwoinska, Debora Goedert, Hanna Kokko, Xiang‐Yi Li Richter, Iain R. Moodie, Sofie Nilén, et al. “A Century of Theories of Balancing Selection.” <i>Biological Reviews</i>. Wiley, 2026. <a href=\"https://doi.org/10.1111/brv.70103\">https://doi.org/10.1111/brv.70103</a>.","mla":"Ruzicka, Filip, et al. “A Century of Theories of Balancing Selection.” <i>Biological Reviews</i>, vol. 101, no. 2, 804–825, Wiley, 2026, doi:<a href=\"https://doi.org/10.1111/brv.70103\">10.1111/brv.70103</a>.","ista":"Ruzicka F, Zwoinska MK, Goedert D, Kokko H, Li Richter X, Moodie IR, Nilén S, Olito C, Svensson EI, Czuppon P, Connallon T. 2026. A century of theories of balancing selection. Biological Reviews. 101(2), 804–825.","short":"F. Ruzicka, M.K. Zwoinska, D. Goedert, H. Kokko, X. Li Richter, I.R. Moodie, S. Nilén, C. Olito, E.I. Svensson, P. Czuppon, T. Connallon, Biological Reviews 101 (2026).","ieee":"F. Ruzicka <i>et al.</i>, “A century of theories of balancing selection,” <i>Biological Reviews</i>, vol. 101, no. 2. Wiley, 2026.","ama":"Ruzicka F, Zwoinska MK, Goedert D, et al. A century of theories of balancing selection. <i>Biological Reviews</i>. 2026;101(2). doi:<a href=\"https://doi.org/10.1111/brv.70103\">10.1111/brv.70103</a>"},"abstract":[{"lang":"eng","text":"Traits that affect organismal fitness are often highly genetically variable. This genetic variation is vital for populations to adapt to their environments, but it is also surprising given that nature – after all – ‘selects’ the best genotypes at the expense of those that fall short. Explaining the extensive genetic variation of fitness‐related traits is thus a longstanding puzzle in evolutionary biology, with cascading implications for ecology, conservation, and human health. Balancing selection – an umbrella term for scenarios in which natural selection maintains genetic variation – is a century‐old explanation to resolve this puzzle that has gained recent momentum from genome‐scale methods for detecting it. Yet evaluating whether balancing selection can, in fact, resolve the puzzle is challenging, given the logistical constraints of distinguishing balancing selection from alternative hypotheses and the daunting collection of theoretical models that formally underpin this debate. Here, we track the development of balancing selection theory over the last century and provide an accessible review of this rich collection of models. We first outline the range of biological scenarios that can generate balancing selection. We then examine how fundamental features of genetic systems – non‐random mating between individuals, ploidy levels, genetic drift, linkage, and genetic architectures of traits – have been progressively incorporated into the theory. We end by linking these theoretical predictions to ongoing empirical efforts to understand the evolutionary processes that explain genetic variation."}],"scopus_import":"1","oa_version":"Published Version","type":"journal_article","publication_identifier":{"eissn":["1469-185X"],"issn":["1464-7931"]},"status":"public","OA_type":"hybrid","supplementarymaterial":"yes","date_created":"2025-11-19T09:43:50Z","article_type":"original","year":"2026","oa":1,"publication_status":"published","doi":"10.1111/brv.70103","file":[{"date_created":"2026-07-27T08:07:35Z","success":1,"file_id":"22409","checksum":"167d95cf0570d6e3653ab349b2a4355c","creator":"dernst","file_name":"2026_BiologicalReviews_Ruzicka.pdf","access_level":"open_access","file_size":1757556,"date_updated":"2026-07-27T08:07:35Z","content_type":"application/pdf","relation":"main_file"}],"project":[{"name":"IST-BRIDGE: International postdoctoral program","call_identifier":"H2020","grant_number":"101034413","_id":"fc2ed2f7-9c52-11eb-aca3-c01059dda49c"}],"intvolume":"       101","file_date_updated":"2026-07-27T08:07:35Z","ddc":["570"],"language":[{"iso":"eng"}],"author":[{"full_name":"Ruzicka, Filip","id":"347955dd-57b0-11ee-9095-c28bdd368f4b","first_name":"Filip","last_name":"Ruzicka"},{"full_name":"Zwoinska, Martyna K.","last_name":"Zwoinska","first_name":"Martyna K."},{"full_name":"Goedert, Debora","first_name":"Debora","last_name":"Goedert"},{"full_name":"Kokko, Hanna","first_name":"Hanna","last_name":"Kokko"},{"first_name":"Xiang‐Yi","last_name":"Li Richter","full_name":"Li Richter, Xiang‐Yi"},{"full_name":"Moodie, Iain R.","first_name":"Iain R.","last_name":"Moodie"},{"full_name":"Nilén, Sofie","last_name":"Nilén","first_name":"Sofie"},{"full_name":"Olito, Colin","last_name":"Olito","first_name":"Colin"},{"last_name":"Svensson","first_name":"Erik I.","full_name":"Svensson, Erik I."},{"full_name":"Czuppon, Peter","last_name":"Czuppon","first_name":"Peter"},{"full_name":"Connallon, Tim","first_name":"Tim","last_name":"Connallon"}],"tmp":{"name":"Creative Commons Attribution-NonCommercial 4.0 International (CC BY-NC 4.0)","image":"/images/cc_by_nc.png","legal_code_url":"https://creativecommons.org/licenses/by-nc/4.0/legalcode","short":"CC BY-NC (4.0)"},"has_accepted_license":"1","_id":"20655","user_id":"2DF688A6-F248-11E8-B48F-1D18A9856A87","ec_funded":1,"issue":"2","department":[{"_id":"BeVi"}],"pmid":1,"corr_author":"1","OA_place":"publisher","publication":"Biological Reviews","day":"01","researchdata_availability":"no"},{"type":"journal_article","publication_identifier":{"issn":["2666-1667"]},"status":"public","publisher":"Elsevier","scopus_import":"1","abstract":[{"lang":"eng","text":"Mosaic analysis with double markers (MADM) technology enables the generation of genetic mosaic tissue in mice and high-resolution phenotyping at the individual cell level. Here, we present a protocol for isolating MADM-labeled cells with high yield for downstream molecular analyses using fluorescence-activated cell sorting (FACS). We describe steps for generating MADM-labeled mice, perfusion, single-cell suspension, and debris removal. We then detail procedures for cell sorting by FACS and downstream analysis. This protocol is suitable for embryonic to adult mice.\r\nFor complete details on the use and execution of this protocol, please refer to Contreras et al. (2021).1"}],"article_number":"102771","citation":{"ama":"Amberg N, Cheung GT, Hippenmeyer S. Protocol for sorting cells from mouse brains labeled with mosaic analysis with double markers by flow cytometry. <i>STAR Protocols</i>. 2024;5(1). doi:<a href=\"https://doi.org/10.1016/j.xpro.2023.102771\">10.1016/j.xpro.2023.102771</a>","ieee":"N. Amberg, G. T. Cheung, and S. Hippenmeyer, “Protocol for sorting cells from mouse brains labeled with mosaic analysis with double markers by flow cytometry,” <i>STAR Protocols</i>, vol. 5, no. 1. Elsevier, 2024.","short":"N. Amberg, G.T. Cheung, S. Hippenmeyer, STAR Protocols 5 (2024).","ista":"Amberg N, Cheung GT, Hippenmeyer S. 2024. Protocol for sorting cells from mouse brains labeled with mosaic analysis with double markers by flow cytometry. STAR Protocols. 5(1), 102771.","mla":"Amberg, Nicole, et al. “Protocol for Sorting Cells from Mouse Brains Labeled with Mosaic Analysis with Double Markers by Flow Cytometry.” <i>STAR Protocols</i>, vol. 5, no. 1, 102771, Elsevier, 2024, doi:<a href=\"https://doi.org/10.1016/j.xpro.2023.102771\">10.1016/j.xpro.2023.102771</a>.","chicago":"Amberg, Nicole, Giselle T Cheung, and Simon Hippenmeyer. “Protocol for Sorting Cells from Mouse Brains Labeled with Mosaic Analysis with Double Markers by Flow Cytometry.” <i>STAR Protocols</i>. Elsevier, 2024. <a href=\"https://doi.org/10.1016/j.xpro.2023.102771\">https://doi.org/10.1016/j.xpro.2023.102771</a>.","apa":"Amberg, N., Cheung, G. T., &#38; Hippenmeyer, S. (2024). Protocol for sorting cells from mouse brains labeled with mosaic analysis with double markers by flow cytometry. <i>STAR Protocols</i>. Elsevier. <a href=\"https://doi.org/10.1016/j.xpro.2023.102771\">https://doi.org/10.1016/j.xpro.2023.102771</a>"},"keyword":["General Immunology and Microbiology","General Biochemistry","Genetics and Molecular Biology","General Neuroscience"],"oa_version":"Published Version","month":"03","external_id":{"pmid":["38070137"]},"quality_controlled":"1","date_updated":"2025-04-15T08:23:06Z","title":"Protocol for sorting cells from mouse brains labeled with mosaic analysis with double markers by flow cytometry","article_processing_charge":"Yes (in subscription journal)","date_published":"2024-03-15T00:00:00Z","acknowledgement":"This research was supported by the Scientific Service Units (SSU) at IST Austria through resources provided by the Imaging & Optics Facility (IOF) and Preclinical Facilities (PCF). N.A. received support from FWF Firnberg-Programme (T 1031). G.C. received support from the European Union’s Horizon 2020 research and innovation programme under the Marie Skłodowska-Curie grant agreement no. 754411 as an ISTplus postdoctoral fellow. This work was also supported by IST Austria institutional funds, FWF SFB F78 to S.H., and the European Research Council (ERC) under the European Union’s Horizon 2020 research and innovation programme (grant agreement no. 725780 LinPro) to S.H.","volume":5,"acknowledged_ssus":[{"_id":"Bio"},{"_id":"PreCl"}],"corr_author":"1","publication":"STAR Protocols","day":"15","tmp":{"short":"CC BY (4.0)","name":"Creative Commons Attribution 4.0 International Public License (CC-BY 4.0)","image":"/images/cc_by.png","legal_code_url":"https://creativecommons.org/licenses/by/4.0/legalcode"},"has_accepted_license":"1","_id":"14683","user_id":"2DF688A6-F248-11E8-B48F-1D18A9856A87","department":[{"_id":"SiHi"}],"issue":"1","ec_funded":1,"pmid":1,"oa":1,"publication_status":"published","file":[{"access_level":"open_access","file_name":"2024_STARProtoc_Amberg.pdf","checksum":"3f0ee62e04bf5a44b45b035662826e95","creator":"dernst","file_id":"17260","success":1,"date_created":"2024-07-16T11:50:03Z","relation":"main_file","content_type":"application/pdf","date_updated":"2024-07-16T11:50:03Z","file_size":8871807}],"doi":"10.1016/j.xpro.2023.102771","project":[{"grant_number":"T01031","_id":"268F8446-B435-11E9-9278-68D0E5697425","name":"Role of Eed in neural stem cell lineage progression","call_identifier":"FWF"},{"grant_number":"754411","_id":"260C2330-B435-11E9-9278-68D0E5697425","name":"ISTplus - Postdoctoral Fellowships","call_identifier":"H2020"},{"_id":"059F6AB4-7A3F-11EA-A408-12923DDC885E","grant_number":"F7805","name":"Stem Cell Modulation in Neural Development and Regeneration/ P05-Molecular Mechanisms of Neural Stem Cell Lineage Progression"},{"_id":"260018B0-B435-11E9-9278-68D0E5697425","grant_number":"725780","call_identifier":"H2020","name":"Principles of Neural Stem Cell Lineage Progression in Cerebral Cortex Development"}],"intvolume":"         5","file_date_updated":"2024-07-16T11:50:03Z","ddc":["570"],"language":[{"iso":"eng"}],"author":[{"first_name":"Nicole","last_name":"Amberg","orcid":"0000-0002-3183-8207","id":"4CD6AAC6-F248-11E8-B48F-1D18A9856A87","full_name":"Amberg, Nicole"},{"full_name":"Cheung, Giselle T","id":"471195F6-F248-11E8-B48F-1D18A9856A87","orcid":"0000-0001-8457-2572","last_name":"Cheung","first_name":"Giselle T"},{"orcid":"0000-0003-2279-1061","last_name":"Hippenmeyer","first_name":"Simon","full_name":"Hippenmeyer, Simon","id":"37B36620-F248-11E8-B48F-1D18A9856A87"}],"date_created":"2023-12-13T11:48:05Z","article_type":"review","year":"2024"},{"volume":187,"acknowledgement":"We are grateful to Asuka Shitaku and Eri Koide for generating and sharing the Marchantia PRAF-mCitrine line and Peng-Cheng Wang for sharing the Arabidopsis raf mutant. We are grateful to our team members for discussions and helpful advice. This work was supported by funding from the Netherlands Organization for Scientific Research (NWO): VICI grant 865.14.001 and ENW-KLEIN OCENW.KLEIN.027 grants to D.W.; VENI grant VI.VENI.212.003 to A.K.; the European Research Council AdG DIRNDL (contract number 833867) to D.W.; CoG CATCH to J.S.; StG CELLONGATE (contract 803048) to M.F.; and AdG ETAP (contract 742985) to J.F.; MEXT KAKENHI grant number JP19H05675 to T.K.; JSPS KAKENHI grant number JP20H03275 to R.N.; Takeda Science Foundation to R.N.; and the Austrian Science Fund (FWF, P29988) to J.F.","isi":1,"article_processing_charge":"Yes (in subscription journal)","date_published":"2024-01-04T00:00:00Z","title":"RAF-like protein kinases mediate a deeply conserved, rapid auxin response","quality_controlled":"1","date_updated":"2026-04-07T11:48:32Z","external_id":{"isi":["001152705700001"],"pmid":["38128538"]},"month":"01","oa_version":"Published Version","scopus_import":"1","abstract":[{"text":"The plant-signaling molecule auxin triggers fast and slow cellular responses across land plants and algae. The nuclear auxin pathway mediates gene expression and controls growth and development in land plants, but this pathway is absent from algal sister groups. Several components of rapid responses have been identified in Arabidopsis, but it is unknown if these are part of a conserved mechanism. We recently identified a fast, proteome-wide phosphorylation response to auxin. Here, we show that this response occurs across 5 land plant and algal species and converges on a core group of shared targets. We found conserved rapid physiological responses to auxin in the same species and identified rapidly accelerated fibrosarcoma (RAF)-like protein kinases as central mediators of auxin-triggered phosphorylation across species. Genetic analysis connects this kinase to both auxin-triggered protein phosphorylation and rapid cellular response, thus identifying an ancient mechanism for fast auxin responses in the green lineage.","lang":"eng"}],"keyword":["General Biochemistry","Genetics and Molecular Biology"],"citation":{"ieee":"A. Kuhn <i>et al.</i>, “RAF-like protein kinases mediate a deeply conserved, rapid auxin response,” <i>Cell</i>, vol. 187, no. 1. Elsevier, p. 130–148.e17, 2024.","ama":"Kuhn A, Roosjen M, Mutte S, et al. RAF-like protein kinases mediate a deeply conserved, rapid auxin response. <i>Cell</i>. 2024;187(1):130-148.e17. doi:<a href=\"https://doi.org/10.1016/j.cell.2023.11.021\">10.1016/j.cell.2023.11.021</a>","apa":"Kuhn, A., Roosjen, M., Mutte, S., Dubey, S. M., Carrillo Carrasco, V. P., Boeren, S., … Weijers, D. (2024). RAF-like protein kinases mediate a deeply conserved, rapid auxin response. <i>Cell</i>. Elsevier. <a href=\"https://doi.org/10.1016/j.cell.2023.11.021\">https://doi.org/10.1016/j.cell.2023.11.021</a>","chicago":"Kuhn, Andre, Mark Roosjen, Sumanth Mutte, Shiv Mani Dubey, Vanessa Polet Carrillo Carrasco, Sjef Boeren, Aline Monzer, et al. “RAF-like Protein Kinases Mediate a Deeply Conserved, Rapid Auxin Response.” <i>Cell</i>. Elsevier, 2024. <a href=\"https://doi.org/10.1016/j.cell.2023.11.021\">https://doi.org/10.1016/j.cell.2023.11.021</a>.","mla":"Kuhn, Andre, et al. “RAF-like Protein Kinases Mediate a Deeply Conserved, Rapid Auxin Response.” <i>Cell</i>, vol. 187, no. 1, Elsevier, 2024, p. 130–148.e17, doi:<a href=\"https://doi.org/10.1016/j.cell.2023.11.021\">10.1016/j.cell.2023.11.021</a>.","short":"A. Kuhn, M. Roosjen, S. Mutte, S.M. Dubey, V.P. Carrillo Carrasco, S. Boeren, A. Monzer, J. Koehorst, T. Kohchi, R. Nishihama, M. Fendrych, J. Sprakel, J. Friml, D. Weijers, Cell 187 (2024) 130–148.e17.","ista":"Kuhn A, Roosjen M, Mutte S, Dubey SM, Carrillo Carrasco VP, Boeren S, Monzer A, Koehorst J, Kohchi T, Nishihama R, Fendrych M, Sprakel J, Friml J, Weijers D. 2024. RAF-like protein kinases mediate a deeply conserved, rapid auxin response. Cell. 187(1), 130–148.e17."},"publisher":"Elsevier","related_material":{"record":[{"status":"public","relation":"dissertation_contains","id":"19395"}]},"status":"public","publication_identifier":{"eissn":["1097-4172"],"issn":["0092-8674"]},"type":"journal_article","year":"2024","article_type":"original","date_created":"2024-01-17T12:45:40Z","author":[{"full_name":"Kuhn, Andre","last_name":"Kuhn","first_name":"Andre"},{"full_name":"Roosjen, Mark","first_name":"Mark","last_name":"Roosjen"},{"full_name":"Mutte, Sumanth","last_name":"Mutte","first_name":"Sumanth"},{"full_name":"Dubey, Shiv Mani","first_name":"Shiv Mani","last_name":"Dubey"},{"full_name":"Carrillo Carrasco, Vanessa Polet","first_name":"Vanessa Polet","last_name":"Carrillo Carrasco"},{"full_name":"Boeren, Sjef","first_name":"Sjef","last_name":"Boeren"},{"first_name":"Aline","last_name":"Monzer","full_name":"Monzer, Aline","id":"2DB5D88C-D7B3-11E9-B8FD-7907E6697425"},{"full_name":"Koehorst, Jasper","first_name":"Jasper","last_name":"Koehorst"},{"first_name":"Takayuki","last_name":"Kohchi","full_name":"Kohchi, Takayuki"},{"full_name":"Nishihama, Ryuichi","last_name":"Nishihama","first_name":"Ryuichi"},{"orcid":"0000-0002-9767-8699","first_name":"Matyas","last_name":"Fendrych","full_name":"Fendrych, Matyas","id":"43905548-F248-11E8-B48F-1D18A9856A87"},{"first_name":"Joris","last_name":"Sprakel","full_name":"Sprakel, Joris"},{"full_name":"Friml, Jiří","id":"4159519E-F248-11E8-B48F-1D18A9856A87","orcid":"0000-0002-8302-7596","first_name":"Jiří","last_name":"Friml"},{"first_name":"Dolf","last_name":"Weijers","full_name":"Weijers, Dolf"}],"language":[{"iso":"eng"}],"ddc":["580"],"file_date_updated":"2024-01-22T13:41:41Z","intvolume":"       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4.0)","image":"/images/cc_by_nc.png","legal_code_url":"https://creativecommons.org/licenses/by-nc/4.0/legalcode","short":"CC BY-NC (4.0)"},"page":"130-148.e17","day":"04","publication":"Cell"},{"publication":"eLife","corr_author":"1","OA_place":"publisher","day":"21","has_accepted_license":"1","tmp":{"short":"CC BY (4.0)","name":"Creative Commons Attribution 4.0 International Public License (CC-BY 4.0)","image":"/images/cc_by.png","legal_code_url":"https://creativecommons.org/licenses/by/4.0/legalcode"},"pmid":1,"department":[{"_id":"JiFr"}],"ec_funded":1,"user_id":"317138e5-6ab7-11ef-aa6d-ffef3953e345","_id":"15033","APC_amount":"2792,52 EUR","intvolume":"        13","project":[{"call_identifier":"H2020","name":"Tracing Evolution of Auxin Transport and Polarity in Plants","grant_number":"742985","_id":"261099A6-B435-11E9-9278-68D0E5697425"},{"name":"Molecular mechanisms of endocytic cargo recognition in plants","call_identifier":"FWF","_id":"26538374-B435-11E9-9278-68D0E5697425","grant_number":"I03630"},{"name":"FWF Open Access Fund","call_identifier":"FWF","_id":"3AC91DDA-15DF-11EA-824D-93A3E7B544D1"}],"doi":"10.7554/elife.68993","file":[{"creator":"dernst","checksum":"b2b2d583b433823af731842f1420113e","access_level":"open_access","file_name":"2024_eLife_Adamowski.pdf","date_created":"2024-07-22T11:51:50Z","file_id":"17310","success":1,"file_size":15675744,"content_type":"application/pdf","date_updated":"2024-07-22T11:51:50Z","relation":"main_file"}],"publication_status":"published","oa":1,"author":[{"id":"45F536D2-F248-11E8-B48F-1D18A9856A87","full_name":"Adamowski, Maciek","last_name":"Adamowski","first_name":"Maciek","orcid":"0000-0001-6463-5257"},{"full_name":"Matijevic, Ivana","id":"83c17ce3-15b2-11ec-abd3-f486545870bd","last_name":"Matijevic","first_name":"Ivana"},{"id":"4159519E-F248-11E8-B48F-1D18A9856A87","full_name":"Friml, Jiří","first_name":"Jiří","last_name":"Friml","orcid":"0000-0002-8302-7596"}],"ddc":["580"],"language":[{"iso":"eng"}],"file_date_updated":"2024-07-22T11:51:50Z","article_type":"original","date_created":"2024-02-27T07:10:11Z","DOAJ_listed":"1","year":"2024","status":"public","publication_identifier":{"issn":["2050-084X"]},"type":"journal_article","OA_type":"gold","publisher":"eLife Sciences Publications","oa_version":"Published Version","citation":{"short":"M. Adamowski, I. Matijevic, J. Friml, ELife 13 (2024).","ista":"Adamowski M, Matijevic I, Friml J. 2024. Developmental patterning function of GNOM ARF-GEF mediated from the cell periphery. eLife. 13.","mla":"Adamowski, Maciek, et al. “Developmental Patterning Function of GNOM ARF-GEF Mediated from the Cell Periphery.” <i>ELife</i>, vol. 13, eLife Sciences Publications, 2024, doi:<a href=\"https://doi.org/10.7554/elife.68993\">10.7554/elife.68993</a>.","chicago":"Adamowski, Maciek, Ivana Matijevic, and Jiří Friml. “Developmental Patterning Function of GNOM ARF-GEF Mediated from the Cell Periphery.” <i>ELife</i>. eLife Sciences Publications, 2024. <a href=\"https://doi.org/10.7554/elife.68993\">https://doi.org/10.7554/elife.68993</a>.","apa":"Adamowski, M., Matijevic, I., &#38; Friml, J. (2024). Developmental patterning function of GNOM ARF-GEF mediated from the cell periphery. <i>ELife</i>. eLife Sciences Publications. <a href=\"https://doi.org/10.7554/elife.68993\">https://doi.org/10.7554/elife.68993</a>","ama":"Adamowski M, Matijevic I, Friml J. Developmental patterning function of GNOM ARF-GEF mediated from the cell periphery. <i>eLife</i>. 2024;13. doi:<a href=\"https://doi.org/10.7554/elife.68993\">10.7554/elife.68993</a>","ieee":"M. Adamowski, I. Matijevic, and J. Friml, “Developmental patterning function of GNOM ARF-GEF mediated from the cell periphery,” <i>eLife</i>, vol. 13. eLife Sciences Publications, 2024."},"scopus_import":"1","abstract":[{"lang":"eng","text":"The GNOM (GN) Guanine nucleotide Exchange Factor for ARF small GTPases (ARF-GEF) is among the best studied trafficking regulators in plants, playing crucial and unique developmental roles in patterning and polarity. The current models place GN at the Golgi apparatus (GA), where it mediates secretion/recycling, and at the plasma membrane (PM) presumably contributing to clathrin-mediated endocytosis (CME). The mechanistic basis of the developmental function of GN, distinct from the other ARF-GEFs including its closest homologue GNOM-LIKE1 (GNL1), remains elusive. Insights from this study largely extend the current notions of GN function. We show that GN, but not GNL1, localizes to the cell periphery at long-lived structures distinct from clathrin-coated pits, while CME and secretion proceed normally in <jats:italic>gn</jats:italic> knockouts. The functional GN mutant variant GN<jats:sup>fewerroots</jats:sup>, absent from the GA, suggests that the cell periphery is the major site of GN action responsible for its developmental function. Following inhibition by Brefeldin A, GN, but not GNL1, relocates to the PM likely on exocytic vesicles, suggesting selective molecular associations en route to the cell periphery. A study of GN-GNL1 chimeric ARF-GEFs indicates that all GN domains contribute to the specific GN function in a partially redundant manner. Together, this study offers significant steps toward the elucidation of the mechanism underlying unique cellular and development functions of GNOM."}],"keyword":["General Immunology and Microbiology","General Biochemistry","Genetics and Molecular Biology","General Medicine","General Neuroscience"],"month":"02","quality_controlled":"1","date_updated":"2025-10-15T06:31:47Z","external_id":{"isi":["001174278000001"],"pmid":["38381485"]},"isi":1,"acknowledgement":"The authors would like to gratefully acknowledge Dr Xixi Zhang for cloning the GNL1/pDONR221 construct and for useful discussions.H2020 European Research Council Advanced Grant ETAP742985 to Jiří Friml, Austrian Science Fund I 3630-B25 to Jiří Friml","article_processing_charge":"Yes","date_published":"2024-02-21T00:00:00Z","title":"Developmental patterning function of GNOM ARF-GEF mediated from the cell periphery","volume":13},{"publisher":"eLife Sciences Publications","oa_version":"Published Version","article_number":"91523","citation":{"ieee":"I. Kulich, J. Schmid, A. Teplova, L. Qi, and J. Friml, “Rapid translocation of NGR proteins driving polarization of PIN-activating D6 protein kinase during root gravitropism,” <i>eLife</i>, vol. 12. eLife Sciences Publications, 2024.","ama":"Kulich I, Schmid J, Teplova A, Qi L, Friml J. Rapid translocation of NGR proteins driving polarization of PIN-activating D6 protein kinase during root gravitropism. <i>eLife</i>. 2024;12. doi:<a href=\"https://doi.org/10.7554/elife.91523\">10.7554/elife.91523</a>","apa":"Kulich, I., Schmid, J., Teplova, A., Qi, L., &#38; Friml, J. (2024). Rapid translocation of NGR proteins driving polarization of PIN-activating D6 protein kinase during root gravitropism. <i>ELife</i>. eLife Sciences Publications. <a href=\"https://doi.org/10.7554/elife.91523\">https://doi.org/10.7554/elife.91523</a>","chicago":"Kulich, Ivan, Julia Schmid, Anastasiia Teplova, Linlin Qi, and Jiří Friml. “Rapid Translocation of NGR Proteins Driving Polarization of PIN-Activating D6 Protein Kinase during Root Gravitropism.” <i>ELife</i>. eLife Sciences Publications, 2024. <a href=\"https://doi.org/10.7554/elife.91523\">https://doi.org/10.7554/elife.91523</a>.","mla":"Kulich, Ivan, et al. “Rapid Translocation of NGR Proteins Driving Polarization of PIN-Activating D6 Protein Kinase during Root Gravitropism.” <i>ELife</i>, vol. 12, 91523, eLife Sciences Publications, 2024, doi:<a href=\"https://doi.org/10.7554/elife.91523\">10.7554/elife.91523</a>.","short":"I. Kulich, J. Schmid, A. Teplova, L. Qi, J. Friml, ELife 12 (2024).","ista":"Kulich I, Schmid J, Teplova A, Qi L, Friml J. 2024. Rapid translocation of NGR proteins driving polarization of PIN-activating D6 protein kinase during root gravitropism. eLife. 12, 91523."},"abstract":[{"lang":"eng","text":"Root gravitropic bending represents a fundamental aspect of terrestrial plant physiology. Gravity is perceived by sedimentation of starch-rich plastids (statoliths) to the bottom of the central root cap cells. Following gravity perception, intercellular auxin transport is redirected downwards leading to an asymmetric auxin accumulation at the lower root side causing inhibition of cell expansion, ultimately resulting in downwards bending. How gravity-induced statoliths repositioning is translated into asymmetric auxin distribution remains unclear despite PIN auxin efflux carriers and the Negative Gravitropic Response of roots (NGR) proteins polarize along statolith sedimentation, thus providing a plausible mechanism for auxin flow redirection. In this study, using a functional NGR1-GFP construct, we visualized the NGR1 localization on the statolith surface and plasma membrane (PM) domains in close proximity to the statoliths, correlating with their movements. We determined that NGR1 binding to these PM domains is indispensable for NGR1 functionality and relies on cysteine acylation and adjacent polybasic regions as well as on lipid and sterol PM composition. Detailed timing of the early events following graviperception suggested that both NGR1 repolarization and initial auxin asymmetry precede the visible PIN3 polarization. This discrepancy motivated us to unveil a rapid, NGR-dependent translocation of PIN-activating AGCVIII kinase D6PK towards lower PMs of gravity-perceiving cells, thus providing an attractive model for rapid redirection of auxin fluxes following gravistimulation."}],"scopus_import":"1","keyword":["General Immunology and Microbiology","General Biochemistry","Genetics and Molecular Biology","General Medicine","General Neuroscience"],"status":"public","publication_identifier":{"issn":["2050-084X"]},"type":"journal_article","related_material":{"link":[{"url":"https://ista.ac.at/en/news/beneath-the-surface/","description":"News on ISTA website","relation":"press_release"}]},"acknowledgement":"The research leading to these results has received funding from the European Research Council (ERC) under the European Union’s Horizon 2020 research and innovation programme grant agreement No 742985 and Austrian Science Fund (FWF): I3630-775 B25 to J.F. This research was also supported by the Lab Support Facility (LSF) and the Imaging and Optics Facility (IOF) of IST Austria, namely Tereza Bělinová for her help with the imaging. JS was supported by FemTECH fellowship.","date_published":"2024-03-05T00:00:00Z","article_processing_charge":"Yes","title":"Rapid translocation of NGR proteins driving polarization of PIN-activating D6 protein kinase during root gravitropism","acknowledged_ssus":[{"_id":"LifeSc"},{"_id":"Bio"}],"volume":12,"month":"03","date_updated":"2025-04-23T07:45:02Z","quality_controlled":"1","external_id":{"pmid":["38441122"]},"has_accepted_license":"1","tmp":{"short":"CC BY (4.0)","name":"Creative Commons Attribution 4.0 International Public License (CC-BY 4.0)","image":"/images/cc_by.png","legal_code_url":"https://creativecommons.org/licenses/by/4.0/legalcode"},"pmid":1,"ec_funded":1,"department":[{"_id":"JiFr"}],"user_id":"2DF688A6-F248-11E8-B48F-1D18A9856A87","_id":"15257","publication":"eLife","corr_author":"1","day":"05","article_type":"original","date_created":"2024-04-02T11:35:58Z","DOAJ_listed":"1","year":"2024","intvolume":"        12","file":[{"date_created":"2024-04-03T13:18:00Z","file_id":"15288","success":1,"creator":"dernst","checksum":"a73a84d3bf97a6d09d24308ca6dd0a0c","access_level":"open_access","file_name":"2024_eLife_Kulich.pdf","file_size":11451904,"date_updated":"2024-04-03T13:18:00Z","relation":"main_file","content_type":"application/pdf"}],"project":[{"call_identifier":"H2020","name":"Tracing Evolution of Auxin Transport and Polarity in Plants","_id":"261099A6-B435-11E9-9278-68D0E5697425","grant_number":"742985"},{"grant_number":"I03630","_id":"26538374-B435-11E9-9278-68D0E5697425","name":"Molecular mechanisms of endocytic cargo recognition in plants","call_identifier":"FWF"}],"doi":"10.7554/elife.91523","publication_status":"published","oa":1,"author":[{"full_name":"Kulich, Ivan","id":"57a1567c-8314-11eb-9063-c9ddc3451a54","first_name":"Ivan","last_name":"Kulich"},{"last_name":"Schmid","first_name":"Julia","full_name":"Schmid, Julia","id":"07cf4637-baaf-11ee-9227-e1de57d1d69b"},{"first_name":"Anastasiia","last_name":"Teplova","id":"e3736151-106c-11ec-b916-c2558e2762c6","full_name":"Teplova, Anastasiia"},{"first_name":"Linlin","last_name":"Qi","orcid":"0000-0001-5187-8401","id":"44B04502-A9ED-11E9-B6FC-583AE6697425","full_name":"Qi, Linlin"},{"orcid":"0000-0002-8302-7596","last_name":"Friml","first_name":"Jiří","full_name":"Friml, Jiří","id":"4159519E-F248-11E8-B48F-1D18A9856A87"}],"ddc":["580"],"language":[{"iso":"eng"}],"file_date_updated":"2024-04-03T13:18:00Z"},{"status":"public","type":"journal_article","publication_identifier":{"eissn":["1546-1718"],"issn":["1061-4036"]},"citation":{"chicago":"Zeller, Peter, Jake Yeung, Helena Viñas Gaza, Buys Anton de Barbanson, Vivek Bhardwaj, Maria Florescu, Reinier van der Linden, and Alexander van Oudenaarden. “Single-Cell SortChIC Identifies Hierarchical Chromatin Dynamics during Hematopoiesis.” <i>Nature Genetics</i>. Springer Nature, 2023. <a href=\"https://doi.org/10.1038/s41588-022-01260-3\">https://doi.org/10.1038/s41588-022-01260-3</a>.","apa":"Zeller, P., Yeung, J., Viñas Gaza, H., de Barbanson, B. A., Bhardwaj, V., Florescu, M., … van Oudenaarden, A. (2023). Single-cell sortChIC identifies hierarchical chromatin dynamics during hematopoiesis. <i>Nature Genetics</i>. Springer Nature. <a href=\"https://doi.org/10.1038/s41588-022-01260-3\">https://doi.org/10.1038/s41588-022-01260-3</a>","short":"P. Zeller, J. Yeung, H. Viñas Gaza, B.A. de Barbanson, V. Bhardwaj, M. Florescu, R. van der Linden, A. van Oudenaarden, Nature Genetics 55 (2023) 333–345.","ista":"Zeller P, Yeung J, Viñas Gaza H, de Barbanson BA, Bhardwaj V, Florescu M, van der Linden R, van Oudenaarden A. 2023. Single-cell sortChIC identifies hierarchical chromatin dynamics during hematopoiesis. Nature Genetics. 55, 333–345.","mla":"Zeller, Peter, et al. “Single-Cell SortChIC Identifies Hierarchical Chromatin Dynamics during Hematopoiesis.” <i>Nature Genetics</i>, vol. 55, Springer Nature, 2023, pp. 333–45, doi:<a href=\"https://doi.org/10.1038/s41588-022-01260-3\">10.1038/s41588-022-01260-3</a>.","ieee":"P. Zeller <i>et al.</i>, “Single-cell sortChIC identifies hierarchical chromatin dynamics during hematopoiesis,” <i>Nature Genetics</i>, vol. 55. Springer Nature, pp. 333–345, 2023.","ama":"Zeller P, Yeung J, Viñas Gaza H, et al. Single-cell sortChIC identifies hierarchical chromatin dynamics during hematopoiesis. <i>Nature Genetics</i>. 2023;55:333-345. doi:<a href=\"https://doi.org/10.1038/s41588-022-01260-3\">10.1038/s41588-022-01260-3</a>"},"keyword":["Genetics"],"scopus_import":"1","abstract":[{"lang":"eng","text":"Post-translational histone modifications modulate chromatin activity to affect gene expression. How chromatin states underlie lineage choice in single cells is relatively unexplored. We develop sort-assisted single-cell chromatin immunocleavage (sortChIC) and map active (H3K4me1 and H3K4me3) and repressive (H3K27me3 and H3K9me3) histone modifications in the mouse bone marrow. During differentiation, hematopoietic stem and progenitor cells (HSPCs) acquire active chromatin states mediated by cell-type-specifying transcription factors, which are unique for each lineage. By contrast, most alterations in repressive marks during differentiation occur independent of the final cell type. Chromatin trajectory analysis shows that lineage choice at the chromatin level occurs at the progenitor stage. Joint profiling of H3K4me1 and H3K9me3 demonstrates that cell types within the myeloid lineage have distinct active chromatin but share similar myeloid-specific heterochromatin states. This implies a hierarchical regulation of chromatin during hematopoiesis: heterochromatin dynamics distinguish differentiation trajectories and lineages, while euchromatin dynamics reflect cell types within lineages."}],"oa_version":"Published Version","publisher":"Springer Nature","quality_controlled":"1","date_updated":"2025-04-23T08:45:00Z","external_id":{"pmid":["36539617"]},"month":"02","volume":55,"article_processing_charge":"No","date_published":"2023-02-01T00:00:00Z","acknowledgement":"We thank A. Giladi for sharing mRNA abundance tables of cell types together with J. van den Berg for critical reading of the manuscript. We thank M. Bartosovic for sharing method comparison data. pK19pA-MN was a gift from Ulrich Laemmli (Addgene plasmid 86973, http://n2t.net/addgene:86973; RRID:Addgene_86973). Figure 8 is adopted from Hematopoiesis (human) diagram by A. Rad and M. Häggström under CC-BY-SA 3.0 license. This work was supported by European Research Council Advanced under grant ERC-AdG 742225-IntScOmics and Nederlandse Organisatie voor Wetenschappelijk Onderzoek (NWO) TOP award NWO-CW 714.016.001. The SNF (P2BSP3-174991), HFSP (LT000209/2018-L) and Marie Skłodowska-Curie Actions (798573) supported P.Z. The SNF (P2ELP3_184488) and HFSP (LT000097/2019-L) supported J.Y. and the EMBO LTF (ALTF 1197–2019) supported V.B. This work is part of the Oncode Institute, which is partly financed by the Dutch Cancer Society. The funders had no role in study design, data collection and analysis, decision to publish or preparation of the manuscript.","title":"Single-cell sortChIC identifies hierarchical chromatin dynamics during hematopoiesis","day":"01","publication":"Nature Genetics","pmid":1,"_id":"12158","user_id":"2DF688A6-F248-11E8-B48F-1D18A9856A87","department":[{"_id":"ScienComp"}],"tmp":{"short":"CC BY (4.0)","name":"Creative Commons Attribution 4.0 International Public License (CC-BY 4.0)","image":"/images/cc_by.png","legal_code_url":"https://creativecommons.org/licenses/by/4.0/legalcode"},"has_accepted_license":"1","page":"333-345","language":[{"iso":"eng"}],"ddc":["570","000"],"author":[{"full_name":"Zeller, Peter","last_name":"Zeller","first_name":"Peter"},{"first_name":"Jake","last_name":"Yeung","orcid":"0000-0003-1732-1559","id":"123012b2-db30-11eb-b4d8-a35840c0551b","full_name":"Yeung, Jake"},{"full_name":"Viñas Gaza, Helena","last_name":"Viñas Gaza","first_name":"Helena"},{"last_name":"de Barbanson","first_name":"Buys Anton","full_name":"de Barbanson, Buys Anton"},{"full_name":"Bhardwaj, Vivek","last_name":"Bhardwaj","first_name":"Vivek"},{"full_name":"Florescu, Maria","first_name":"Maria","last_name":"Florescu"},{"full_name":"van der Linden, Reinier","first_name":"Reinier","last_name":"van der Linden"},{"first_name":"Alexander","last_name":"van Oudenaarden","full_name":"van Oudenaarden, Alexander"}],"file_date_updated":"2023-02-27T07:46:45Z","intvolume":"        55","publication_status":"published","oa":1,"doi":"10.1038/s41588-022-01260-3","file":[{"checksum":"6fdb8e34fbeea63edd0f2c6c2cc5823e","creator":"dernst","file_name":"2023_NatureGenetics_Zeller.pdf","access_level":"open_access","date_created":"2023-02-27T07:46:45Z","success":1,"file_id":"12688","file_size":21484855,"content_type":"application/pdf","relation":"main_file","date_updated":"2023-02-27T07:46:45Z"}],"year":"2023","article_type":"review","date_created":"2023-01-12T12:09:09Z"},{"language":[{"iso":"eng"}],"ddc":["570"],"author":[{"id":"462D4284-F248-11E8-B48F-1D18A9856A87","full_name":"Loose, Martin","first_name":"Martin","last_name":"Loose","orcid":"0000-0001-7309-9724"},{"first_name":"Albert","last_name":"Auer","orcid":"0000-0002-3580-2906","id":"3018E8C2-F248-11E8-B48F-1D18A9856A87","full_name":"Auer, Albert"},{"last_name":"Brognara","first_name":"Gabriel","full_name":"Brognara, Gabriel","id":"D96FFDA0-A884-11E9-9968-DC26E6697425"},{"id":"55380f95-15b2-11ec-abd3-aff8e230696b","full_name":"Budiman, Hanifatul R","first_name":"Hanifatul R","last_name":"Budiman"},{"first_name":"Lukasz M","last_name":"Kowalski","full_name":"Kowalski, Lukasz M","id":"e3a512e2-4bbe-11eb-a68a-e3857a7844c2"},{"first_name":"Ivana","last_name":"Matijevic","full_name":"Matijevic, Ivana","id":"83c17ce3-15b2-11ec-abd3-f486545870bd"}],"file_date_updated":"2023-08-16T08:31:04Z","intvolume":"       597","publication_status":"published","oa":1,"file":[{"relation":"main_file","content_type":"application/pdf","date_updated":"2023-08-16T08:31:04Z","file_size":3148143,"access_level":"open_access","file_name":"2023_FEBSLetters_Loose.pdf","checksum":"7492244d3f9c5faa1347ef03f6e5bc84","creator":"dernst","file_id":"14063","success":1,"date_created":"2023-08-16T08:31:04Z"}],"doi":"10.1002/1873-3468.14540","year":"2023","article_type":"review","date_created":"2023-01-12T12:09:58Z","day":"01","publication":"FEBS Letters","corr_author":"1","pmid":1,"user_id":"2DF688A6-F248-11E8-B48F-1D18A9856A87","_id":"12163","issue":"6","department":[{"_id":"MaLo"}],"tmp":{"short":"CC BY-NC-ND (4.0)","legal_code_url":"https://creativecommons.org/licenses/by-nc-nd/4.0/legalcode","image":"/images/cc_by_nc_nd.png","name":"Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International (CC BY-NC-ND 4.0)"},"has_accepted_license":"1","page":"762-777","quality_controlled":"1","date_updated":"2024-10-09T21:03:42Z","external_id":{"isi":["000891573000001"],"pmid":["36448231"]},"month":"03","volume":597,"article_processing_charge":"Yes (via OA deal)","date_published":"2023-03-01T00:00:00Z","isi":1,"acknowledgement":"The authors acknowledge support from IST Austria and helpful comments from the anonymous reviewers that helped to improve this manuscript. We apologize to the authors of primary literature and outstanding research not cited here due to space restraints.","title":"In vitro reconstitution of small GTPase regulation","status":"public","type":"journal_article","publication_identifier":{"eissn":["1873-3468"],"issn":["0014-5793"]},"abstract":[{"lang":"eng","text":"Small GTPases play essential roles in the organization of eukaryotic cells. In recent years, it has become clear that their intracellular functions result from intricate biochemical networks of the GTPase and their regulators that dynamically bind to a membrane surface. Due to the inherent complexities of their interactions, however, revealing the underlying mechanisms of action is often difficult to achieve from in vivo studies. This review summarizes in vitro reconstitution approaches developed to obtain a better mechanistic understanding of how small GTPase activities are regulated in space and time."}],"scopus_import":"1","citation":{"ama":"Loose M, Auer A, Brognara G, Budiman HR, Kowalski LM, Matijevic I. In vitro reconstitution of small GTPase regulation. <i>FEBS Letters</i>. 2023;597(6):762-777. doi:<a href=\"https://doi.org/10.1002/1873-3468.14540\">10.1002/1873-3468.14540</a>","ieee":"M. Loose, A. Auer, G. Brognara, H. R. Budiman, L. M. Kowalski, and I. Matijevic, “In vitro reconstitution of small GTPase regulation,” <i>FEBS Letters</i>, vol. 597, no. 6. Wiley, pp. 762–777, 2023.","mla":"Loose, Martin, et al. “In Vitro Reconstitution of Small GTPase Regulation.” <i>FEBS Letters</i>, vol. 597, no. 6, Wiley, 2023, pp. 762–77, doi:<a href=\"https://doi.org/10.1002/1873-3468.14540\">10.1002/1873-3468.14540</a>.","ista":"Loose M, Auer A, Brognara G, Budiman HR, Kowalski LM, Matijevic I. 2023. In vitro reconstitution of small GTPase regulation. FEBS Letters. 597(6), 762–777.","short":"M. Loose, A. Auer, G. Brognara, H.R. Budiman, L.M. Kowalski, I. Matijevic, FEBS Letters 597 (2023) 762–777.","apa":"Loose, M., Auer, A., Brognara, G., Budiman, H. R., Kowalski, L. M., &#38; Matijevic, I. (2023). In vitro reconstitution of small GTPase regulation. <i>FEBS Letters</i>. Wiley. <a href=\"https://doi.org/10.1002/1873-3468.14540\">https://doi.org/10.1002/1873-3468.14540</a>","chicago":"Loose, Martin, Albert Auer, Gabriel Brognara, Hanifatul R Budiman, Lukasz M Kowalski, and Ivana Matijevic. “In Vitro Reconstitution of Small GTPase Regulation.” <i>FEBS Letters</i>. Wiley, 2023. <a href=\"https://doi.org/10.1002/1873-3468.14540\">https://doi.org/10.1002/1873-3468.14540</a>."},"keyword":["Cell Biology","Genetics","Molecular Biology","Biochemistry","Structural Biology","Biophysics"],"oa_version":"Published Version","publisher":"Wiley"},{"oa_version":"Published Version","keyword":["Genetics","Ecology","Evolution","Behavior and Systematics"],"scopus_import":"1","abstract":[{"text":"Kerstin Johannesson is a marine ecologist and evolutionary biologist based at the Tjärnö Marine Laboratory of the University of Gothenburg, which is situated in the beautiful Kosterhavet National Park on the Swedish west coast. Her work, using marine periwinkles (especially Littorina saxatilis and L. fabalis) as main model systems, has made a remarkable contribution to marine evolutionary biology and our understanding of local adaptation and its genetic underpinnings.","lang":"eng"}],"citation":{"chicago":"Westram, Anja M, and Roger Butlin. “Professor Kerstin Johannesson–Winner of the 2022 Molecular Ecology Prize.” <i>Molecular Ecology</i>. Wiley, 2023. <a href=\"https://doi.org/10.1111/mec.16779\">https://doi.org/10.1111/mec.16779</a>.","apa":"Westram, A. M., &#38; Butlin, R. (2023). Professor Kerstin Johannesson–winner of the 2022 Molecular Ecology Prize. <i>Molecular Ecology</i>. Wiley. <a href=\"https://doi.org/10.1111/mec.16779\">https://doi.org/10.1111/mec.16779</a>","ista":"Westram AM, Butlin R. 2023. Professor Kerstin Johannesson–winner of the 2022 Molecular Ecology Prize. Molecular Ecology. 32(1), 26–29.","short":"A.M. Westram, R. Butlin, Molecular Ecology 32 (2023) 26–29.","mla":"Westram, Anja M., and Roger Butlin. “Professor Kerstin Johannesson–Winner of the 2022 Molecular Ecology Prize.” <i>Molecular Ecology</i>, vol. 32, no. 1, Wiley, 2023, pp. 26–29, doi:<a href=\"https://doi.org/10.1111/mec.16779\">10.1111/mec.16779</a>.","ieee":"A. M. Westram and R. Butlin, “Professor Kerstin Johannesson–winner of the 2022 Molecular Ecology Prize,” <i>Molecular Ecology</i>, vol. 32, no. 1. Wiley, pp. 26–29, 2023.","ama":"Westram AM, Butlin R. Professor Kerstin Johannesson–winner of the 2022 Molecular Ecology Prize. <i>Molecular Ecology</i>. 2023;32(1):26-29. doi:<a href=\"https://doi.org/10.1111/mec.16779\">10.1111/mec.16779</a>"},"main_file_link":[{"open_access":"1","url":"https://doi.org/10.1111/mec.16779"}],"publisher":"Wiley","OA_type":"free access","status":"public","publication_identifier":{"eissn":["1365-294X"],"issn":["0962-1083"]},"type":"journal_article","volume":32,"isi":1,"date_published":"2023-01-01T00:00:00Z","article_processing_charge":"No","title":"Professor Kerstin Johannesson–winner of the 2022 Molecular Ecology Prize","date_updated":"2026-06-18T17:24:18Z","quality_controlled":"1","external_id":{"pmid":["36443277"],"isi":["000892168800001"]},"month":"01","pmid":1,"issue":"1","department":[{"_id":"NiBa"}],"_id":"12166","user_id":"2DF688A6-F248-11E8-B48F-1D18A9856A87","page":"26-29","day":"01","publication":"Molecular Ecology","corr_author":"1","year":"2023","article_type":"editorial","date_created":"2023-01-12T12:10:28Z","author":[{"last_name":"Westram","first_name":"Anja M","orcid":"0000-0003-1050-4969","id":"3C147470-F248-11E8-B48F-1D18A9856A87","full_name":"Westram, Anja M"},{"full_name":"Butlin, Roger","last_name":"Butlin","first_name":"Roger"}],"ddc":["570"],"language":[{"iso":"eng"}],"intvolume":"        32","doi":"10.1111/mec.16779","oa":1,"publication_status":"published"},{"related_material":{"link":[{"url":"https://ista.ac.at/en/news/feed-them-or-lose-them/","description":"News on ISTA Website","relation":"press_release"}],"record":[{"status":"public","id":"19557","relation":"dissertation_contains"},{"id":"13107","relation":"dissertation_contains","status":"public"}]},"publication_identifier":{"issn":["0092-8674"]},"type":"journal_article","status":"public","oa_version":"Published Version","abstract":[{"text":"Little is known about the critical metabolic changes that neural cells have to undergo during development and how temporary shifts in this program can influence brain circuitries and behavior. Inspired by the discovery that mutations in SLC7A5, a transporter of metabolically essential large neutral amino acids (LNAAs), lead to autism, we employed metabolomic profiling to study the metabolic states of the cerebral cortex across different developmental stages. We found that the forebrain undergoes significant metabolic remodeling throughout development, with certain groups of metabolites showing stage-specific changes, but what are the consequences of perturbing this metabolic program? By manipulating Slc7a5 expression in neural cells, we found that the metabolism of LNAAs and lipids are interconnected in the cortex. Deletion of Slc7a5 in neurons affects the postnatal metabolic state, leading to a shift in lipid metabolism. Additionally, it causes stage- and cell-type-specific alterations in neuronal activity patterns, resulting in a long-term circuit dysfunction.","lang":"eng"}],"citation":{"ista":"Knaus L, Basilico B, Malzl D, Gerykova Bujalkova M, Smogavec M, Schwarz LA, Gorkiewicz S, Amberg N, Pauler F, Knittl-Frank C, Tassinari M, Maulide N, Rülicke T, Menche J, Hippenmeyer S, Novarino G. 2023. Large neutral amino acid levels tune perinatal neuronal excitability and survival. Cell. 186(9), 1950–1967.e25.","short":"L. Knaus, B. Basilico, D. Malzl, M. Gerykova Bujalkova, M. Smogavec, L.A. Schwarz, S. Gorkiewicz, N. Amberg, F. Pauler, C. Knittl-Frank, M. Tassinari, N. Maulide, T. Rülicke, J. Menche, S. Hippenmeyer, G. Novarino, Cell 186 (2023) 1950–1967.e25.","mla":"Knaus, Lisa, et al. “Large Neutral Amino Acid Levels Tune Perinatal Neuronal Excitability and Survival.” <i>Cell</i>, vol. 186, no. 9, Elsevier, 2023, p. 1950–1967.e25, doi:<a href=\"https://doi.org/10.1016/j.cell.2023.02.037\">10.1016/j.cell.2023.02.037</a>.","chicago":"Knaus, Lisa, Bernadette Basilico, Daniel Malzl, Maria Gerykova Bujalkova, Mateja Smogavec, Lena A. Schwarz, Sarah Gorkiewicz, et al. “Large Neutral Amino Acid Levels Tune Perinatal Neuronal Excitability and Survival.” <i>Cell</i>. Elsevier, 2023. <a href=\"https://doi.org/10.1016/j.cell.2023.02.037\">https://doi.org/10.1016/j.cell.2023.02.037</a>.","apa":"Knaus, L., Basilico, B., Malzl, D., Gerykova Bujalkova, M., Smogavec, M., Schwarz, L. A., … Novarino, G. (2023). Large neutral amino acid levels tune perinatal neuronal excitability and survival. <i>Cell</i>. Elsevier. <a href=\"https://doi.org/10.1016/j.cell.2023.02.037\">https://doi.org/10.1016/j.cell.2023.02.037</a>","ama":"Knaus L, Basilico B, Malzl D, et al. Large neutral amino acid levels tune perinatal neuronal excitability and survival. <i>Cell</i>. 2023;186(9):1950-1967.e25. doi:<a href=\"https://doi.org/10.1016/j.cell.2023.02.037\">10.1016/j.cell.2023.02.037</a>","ieee":"L. Knaus <i>et al.</i>, “Large neutral amino acid levels tune perinatal neuronal excitability and survival,” <i>Cell</i>, vol. 186, no. 9. Elsevier, p. 1950–1967.e25, 2023."},"keyword":["General Biochemistry","Genetics and Molecular Biology"],"scopus_import":"1","publisher":"Elsevier","external_id":{"isi":["000991468700001"],"pmid":["36996814"]},"date_updated":"2026-04-14T08:34:36Z","quality_controlled":"1","month":"04","acknowledged_ssus":[{"_id":"PreCl"},{"_id":"EM-Fac"},{"_id":"Bio"},{"_id":"LifeSc"}],"volume":186,"title":"Large neutral amino acid levels tune perinatal neuronal excitability and survival","acknowledgement":"We thank A. Freeman and V. Voronin for technical assistance, S. Deixler, A. Stichelberger, M. Schunn, and the Preclinical Facility for managing our animal colony. We thank L. Andersen and J. Sonntag, who were involved in generating the MADM lines. We thank the ISTA LSF Mass Spectrometry Core Facility for assistance with the proteomic analysis, as well as the ISTA electron microscopy and Imaging and Optics facility for technical support. Metabolomics LC-MS/MS analysis was performed by the Metabolomics Facility at Vienna BioCenter Core Facilities (VBCF). We acknowledge the support of the EMBL Metabolomics Core Facility (MCF) for lipidomics and intracellular metabolomics mass spectrometry data acquisition and analysis. RNA sequencing was performed by the Next Generation Sequencing Facility at VBCF. Schematics were generated using Biorender.com. This work was supported by the Austrian Science Fund (FWF, DK W1232-B24) and by the European Union’s Horizon 2020 research and innovation program (ERC) grant 725780 (LinPro) to S.H. and 715508 (REVERSEAUTISM) to G.N.","isi":1,"article_processing_charge":"Yes (via OA deal)","date_published":"2023-04-27T00:00:00Z","day":"27","corr_author":"1","publication":"Cell","ec_funded":1,"issue":"9","department":[{"_id":"SiHi"},{"_id":"GaNo"}],"user_id":"2DF688A6-F248-11E8-B48F-1D18A9856A87","_id":"12802","pmid":1,"page":"1950-1967.e25","has_accepted_license":"1","tmp":{"short":"CC BY (4.0)","name":"Creative Commons Attribution 4.0 International Public License (CC-BY 4.0)","image":"/images/cc_by.png","legal_code_url":"https://creativecommons.org/licenses/by/4.0/legalcode"},"file_date_updated":"2023-05-02T09:26:21Z","author":[{"first_name":"Lisa","last_name":"Knaus","id":"3B2ABCF4-F248-11E8-B48F-1D18A9856A87","full_name":"Knaus, Lisa"},{"last_name":"Basilico","first_name":"Bernadette","orcid":"0000-0003-1843-3173","id":"36035796-5ACA-11E9-A75E-7AF2E5697425","full_name":"Basilico, Bernadette"},{"full_name":"Malzl, Daniel","last_name":"Malzl","first_name":"Daniel"},{"full_name":"Gerykova Bujalkova, Maria","first_name":"Maria","last_name":"Gerykova Bujalkova"},{"last_name":"Smogavec","first_name":"Mateja","full_name":"Smogavec, Mateja"},{"full_name":"Schwarz, Lena A.","first_name":"Lena A.","last_name":"Schwarz"},{"last_name":"Gorkiewicz","first_name":"Sarah","id":"f141a35d-15a9-11ec-9fb2-fef6becc7b6f","full_name":"Gorkiewicz, Sarah"},{"orcid":"0000-0002-3183-8207","first_name":"Nicole","last_name":"Amberg","full_name":"Amberg, Nicole","id":"4CD6AAC6-F248-11E8-B48F-1D18A9856A87"},{"full_name":"Pauler, Florian","id":"48EA0138-F248-11E8-B48F-1D18A9856A87","orcid":"0000-0002-7462-0048","first_name":"Florian","last_name":"Pauler"},{"last_name":"Knittl-Frank","first_name":"Christian","full_name":"Knittl-Frank, Christian"},{"id":"7af593f1-d44a-11ed-bf94-a3646a6bb35e","full_name":"Tassinari, Marianna","last_name":"Tassinari","first_name":"Marianna"},{"full_name":"Maulide, Nuno","first_name":"Nuno","last_name":"Maulide"},{"first_name":"Thomas","last_name":"Rülicke","full_name":"Rülicke, Thomas"},{"full_name":"Menche, Jörg","first_name":"Jörg","last_name":"Menche"},{"full_name":"Hippenmeyer, Simon","id":"37B36620-F248-11E8-B48F-1D18A9856A87","orcid":"0000-0003-2279-1061","first_name":"Simon","last_name":"Hippenmeyer"},{"orcid":"0000-0002-7673-7178","first_name":"Gaia","last_name":"Novarino","full_name":"Novarino, Gaia","id":"3E57A680-F248-11E8-B48F-1D18A9856A87"}],"language":[{"iso":"eng"}],"ddc":["570"],"doi":"10.1016/j.cell.2023.02.037","file":[{"access_level":"open_access","file_name":"2023_Cell_Knaus.pdf","creator":"dernst","checksum":"47e94fbe19e86505b429cb7a5b503ce6","file_id":"12889","success":1,"date_created":"2023-05-02T09:26:21Z","date_updated":"2023-05-02T09:26:21Z","content_type":"application/pdf","relation":"main_file","file_size":15712841}],"project":[{"name":"Molecular Drug Targets","call_identifier":"FWF","_id":"2548AE96-B435-11E9-9278-68D0E5697425","grant_number":"W1232"},{"call_identifier":"H2020","name":"Principles of Neural Stem Cell Lineage Progression in Cerebral Cortex Development","grant_number":"725780","_id":"260018B0-B435-11E9-9278-68D0E5697425"},{"grant_number":"715508","_id":"25444568-B435-11E9-9278-68D0E5697425","name":"Probing the Reversibility of Autism Spectrum Disorders by Employing in vivo and in vitro Models","call_identifier":"H2020"}],"publication_status":"published","oa":1,"intvolume":"       186","year":"2023","date_created":"2023-04-05T08:15:40Z","article_type":"original"},{"department":[{"_id":"NiBa"}],"_id":"12949","user_id":"2DF688A6-F248-11E8-B48F-1D18A9856A87","oa_version":"Published Version","abstract":[{"text":"The classical infinitesimal model is a simple and robust model for the inheritance of quantitative traits. In this model, a quantitative trait is expressed as the sum of a genetic and a non-genetic (environmental) component and the genetic component of offspring traits within a family follows a normal distribution around the average of the parents’ trait values, and has a variance that is independent of the trait values of the parents. Although the trait distribution across the whole population can be far from normal, the trait distributions within families are normally distributed with a variance-covariance matrix that is determined entirely by that in  the ancestral population and the probabilities of identity determined by the pedigree. Moreover, conditioning on some of the trait values within the pedigree has predictable effects on the mean and variance within and between families. In previous work, Barton et al. (2017), we showed that when trait values are determined by the sum of a large number of Mendelian factors, each  of small effect, one can justify the infinitesimal model as limit of Mendelian inheritance. It was also shown that under some forms of epistasis, trait values within a family are still normally distributed.","lang":"eng"}],"keyword":["Quantitative genetics","infinitesimal model"],"citation":{"ieee":"N. H. Barton, “The infinitesimal model with dominance.” Institute of Science and Technology Austria, 2023.","ama":"Barton NH. The infinitesimal model with dominance. 2023. doi:<a href=\"https://doi.org/10.15479/AT:ISTA:12949\">10.15479/AT:ISTA:12949</a>","chicago":"Barton, Nicholas H. “The Infinitesimal Model with Dominance.” Institute of Science and Technology Austria, 2023. <a href=\"https://doi.org/10.15479/AT:ISTA:12949\">https://doi.org/10.15479/AT:ISTA:12949</a>.","apa":"Barton, N. H. (2023). The infinitesimal model with dominance. Institute of Science and Technology Austria. <a href=\"https://doi.org/10.15479/AT:ISTA:12949\">https://doi.org/10.15479/AT:ISTA:12949</a>","short":"N.H. Barton, (2023).","ista":"Barton NH. 2023. The infinitesimal model with dominance, Institute of Science and Technology Austria, <a href=\"https://doi.org/10.15479/AT:ISTA:12949\">10.15479/AT:ISTA:12949</a>.","mla":"Barton, Nicholas H. <i>The Infinitesimal Model with Dominance</i>. Institute of Science and Technology Austria, 2023, doi:<a href=\"https://doi.org/10.15479/AT:ISTA:12949\">10.15479/AT:ISTA:12949</a>."},"publisher":"Institute of Science and Technology Austria","has_accepted_license":"1","tmp":{"short":"CC BY (4.0)","name":"Creative Commons Attribution 4.0 International Public License (CC-BY 4.0)","image":"/images/cc_by.png","legal_code_url":"https://creativecommons.org/licenses/by/4.0/legalcode"},"contributor":[{"contributor_type":"researcher","first_name":"Amandine","last_name":"Veber"},{"contributor_type":"researcher","first_name":"Alison","last_name":"Etheridge"}],"related_material":{"record":[{"id":"14452","relation":"used_in_publication","status":"public"}]},"day":"13","corr_author":"1","type":"research_data","status":"public","year":"2023","date_created":"2023-05-13T09:49:09Z","title":"The infinitesimal model with 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Tongtong"},{"full_name":"Baykusheva, Denitsa Rangelova","id":"71b4d059-2a03-11ee-914d-dfa3beed6530","last_name":"Baykusheva","first_name":"Denitsa Rangelova"},{"full_name":"Li, Mingda","last_name":"Li","first_name":"Mingda"},{"last_name":"Mitrano","first_name":"Matteo","full_name":"Mitrano, Matteo"},{"full_name":"Wang, Yao","first_name":"Yao","last_name":"Wang"}],"extern":"1","publication_status":"published","oa":1,"doi":"10.1038/s41467-023-38540-3","intvolume":"        14","_id":"13989","user_id":"2DF688A6-F248-11E8-B48F-1D18A9856A87","pmid":1,"day":"14","publication":"Nature Communications","volume":14,"title":"Witnessing light-driven entanglement using time-resolved resonant inelastic X-ray scattering","date_published":"2023-06-14T00:00:00Z","article_processing_charge":"No","arxiv":1,"external_id":{"arxiv":["2209.02283"],"pmid":["37316515"]},"quality_controlled":"1","date_updated":"2023-08-22T06:50:04Z","month":"06","citation":{"ama":"Hales J, Bajpai U, Liu T, et al. Witnessing light-driven entanglement using time-resolved resonant inelastic X-ray scattering. <i>Nature Communications</i>. 2023;14. doi:<a href=\"https://doi.org/10.1038/s41467-023-38540-3\">10.1038/s41467-023-38540-3</a>","ieee":"J. Hales <i>et al.</i>, “Witnessing light-driven entanglement using time-resolved resonant inelastic X-ray scattering,” <i>Nature Communications</i>, vol. 14. Springer Nature, 2023.","ista":"Hales J, Bajpai U, Liu T, Baykusheva DR, Li M, Mitrano M, Wang Y. 2023. Witnessing light-driven entanglement using time-resolved resonant inelastic X-ray scattering. Nature Communications. 14, 3512.","short":"J. Hales, U. Bajpai, T. Liu, D.R. Baykusheva, M. Li, M. Mitrano, Y. Wang, Nature Communications 14 (2023).","mla":"Hales, Jordyn, et al. “Witnessing Light-Driven Entanglement Using Time-Resolved Resonant Inelastic X-Ray Scattering.” <i>Nature Communications</i>, vol. 14, 3512, Springer Nature, 2023, doi:<a href=\"https://doi.org/10.1038/s41467-023-38540-3\">10.1038/s41467-023-38540-3</a>.","chicago":"Hales, Jordyn, Utkarsh Bajpai, Tongtong Liu, Denitsa Rangelova Baykusheva, Mingda Li, Matteo Mitrano, and Yao Wang. “Witnessing Light-Driven Entanglement Using Time-Resolved Resonant Inelastic X-Ray Scattering.” <i>Nature Communications</i>. Springer Nature, 2023. <a href=\"https://doi.org/10.1038/s41467-023-38540-3\">https://doi.org/10.1038/s41467-023-38540-3</a>.","apa":"Hales, J., Bajpai, U., Liu, T., Baykusheva, D. R., Li, M., Mitrano, M., &#38; Wang, Y. (2023). Witnessing light-driven entanglement using time-resolved resonant inelastic X-ray scattering. <i>Nature Communications</i>. Springer Nature. <a href=\"https://doi.org/10.1038/s41467-023-38540-3\">https://doi.org/10.1038/s41467-023-38540-3</a>"},"keyword":["General Physics and Astronomy","General Biochemistry","Genetics and Molecular Biology","General Chemistry","Multidisciplinary"],"scopus_import":"1","abstract":[{"lang":"eng","text":"Characterizing and controlling entanglement in quantum materials is crucial for the development of next-generation quantum technologies. However, defining a quantifiable figure of merit for entanglement in macroscopic solids is theoretically and experimentally challenging. At equilibrium the presence of entanglement can be diagnosed by extracting entanglement witnesses from spectroscopic observables and a nonequilibrium extension of this method could lead to the discovery of novel dynamical phenomena. Here, we propose a systematic approach to quantify the time-dependent quantum Fisher information and entanglement depth of transient states of quantum materials with time-resolved resonant inelastic x-ray scattering. Using a quarter-filled extended Hubbard model as an example, we benchmark the efficiency of this approach and predict a light-enhanced many-body entanglement due to the proximity to a phase boundary. Our work sets the stage for experimentally witnessing and controlling entanglement in light-driven quantum materials via ultrafast spectroscopic measurements."}],"article_number":"3512","oa_version":"Published Version","publisher":"Springer Nature","main_file_link":[{"open_access":"1","url":"https://doi.org/10.1038/s41467-023-38540-3"}],"type":"journal_article","publication_identifier":{"eissn":["2041-1723"]},"status":"public"},{"acknowledged_ssus":[{"_id":"ScienComp"}],"volume":13,"acknowledgement":"We thank members of the Vicoso Group for comments on the manuscript, the Scientific Computing Unit at ISTA for technical support, and 2 anonymous reviewers for useful feedback. GP is the recipient of a DOC Fellowship of the Austrian Academy of Sciences at the Institute of Science and Technology Austria (DOC 25817) and received funding from the European Union’s Horizon 2020 research and innovation program under the Marie Skłodowska-Curie Grant (agreement no. 665385).","isi":1,"article_processing_charge":"Yes","date_published":"2023-08-01T00:00:00Z","title":"Sex-specific estimation of cis and trans regulation of gene expression in heads and gonads of Drosophila melanogaster","quality_controlled":"1","date_updated":"2026-04-07T13:25:34Z","external_id":{"isi":["001002997200001"],"pmid":["37259621"]},"month":"08","oa_version":"Published Version","citation":{"apa":"Puixeu Sala, G., Macon, A., &#38; Vicoso, B. (2023). Sex-specific estimation of cis and trans regulation of gene expression in heads and gonads of Drosophila melanogaster. <i>G3: Genes, Genomes, Genetics</i>. Oxford University Press. <a href=\"https://doi.org/10.1093/g3journal/jkad121\">https://doi.org/10.1093/g3journal/jkad121</a>","chicago":"Puixeu Sala, Gemma, Ariana Macon, and Beatriz Vicoso. “Sex-Specific Estimation of Cis and Trans Regulation of Gene Expression in Heads and Gonads of Drosophila Melanogaster.” <i>G3: Genes, Genomes, Genetics</i>. Oxford University Press, 2023. <a href=\"https://doi.org/10.1093/g3journal/jkad121\">https://doi.org/10.1093/g3journal/jkad121</a>.","mla":"Puixeu Sala, Gemma, et al. “Sex-Specific Estimation of Cis and Trans Regulation of Gene Expression in Heads and Gonads of Drosophila Melanogaster.” <i>G3: Genes, Genomes, Genetics</i>, vol. 13, no. 8, Oxford University Press, 2023, doi:<a href=\"https://doi.org/10.1093/g3journal/jkad121\">10.1093/g3journal/jkad121</a>.","short":"G. Puixeu Sala, A. Macon, B. Vicoso, G3: Genes, Genomes, Genetics 13 (2023).","ista":"Puixeu Sala G, Macon A, Vicoso B. 2023. Sex-specific estimation of cis and trans regulation of gene expression in heads and gonads of Drosophila melanogaster. G3: Genes, Genomes, Genetics. 13(8).","ieee":"G. Puixeu Sala, A. Macon, and B. Vicoso, “Sex-specific estimation of cis and trans regulation of gene expression in heads and gonads of Drosophila melanogaster,” <i>G3: Genes, Genomes, Genetics</i>, vol. 13, no. 8. Oxford University Press, 2023.","ama":"Puixeu Sala G, Macon A, Vicoso B. Sex-specific estimation of cis and trans regulation of gene expression in heads and gonads of Drosophila melanogaster. <i>G3: Genes, Genomes, Genetics</i>. 2023;13(8). doi:<a href=\"https://doi.org/10.1093/g3journal/jkad121\">10.1093/g3journal/jkad121</a>"},"keyword":["Genetics (clinical)","Genetics","Molecular Biology"],"scopus_import":"1","abstract":[{"text":"The regulatory architecture of gene expression is known to differ substantially between sexes in Drosophila, but most studies performed\r\nso far used whole-body data and only single crosses, which may have limited their scope to detect patterns that are robust across tissues\r\nand biological replicates. Here, we use allele-specific gene expression of parental and reciprocal hybrid crosses between 6 Drosophila\r\nmelanogaster inbred lines to quantify cis- and trans-regulatory variation in heads and gonads of both sexes separately across 3 replicate\r\ncrosses. Our results suggest that female and male heads, as well as ovaries, have a similar regulatory architecture. On the other hand,\r\ntestes display more and substantially different cis-regulatory effects, suggesting that sex differences in the regulatory architecture that\r\nhave been previously observed may largely derive from testis-specific effects. We also examine the difference in cis-regulatory variation\r\nof genes across different levels of sex bias in gonads and heads. Consistent with the idea that intersex correlations constrain expression\r\nand can lead to sexual antagonism, we find more cis variation in unbiased and moderately biased genes in heads. In ovaries, reduced cis\r\nvariation is observed for male-biased genes, suggesting that cis variants acting on these genes in males do not lead to changes in ovary\r\nexpression. Finally, we examine the dominance patterns of gene expression and find that sex- and tissue-specific patterns of inheritance\r\nas well as trans-regulatory variation are highly variable across biological crosses, although these were performed in highly controlled\r\nexperimental conditions. This highlights the importance of using various genetic backgrounds to infer generalizable patterns.","lang":"eng"}],"publisher":"Oxford University Press","related_material":{"record":[{"id":"12933","relation":"research_data","status":"public"},{"id":"14058","relation":"dissertation_contains","status":"public"}]},"status":"public","publication_identifier":{"issn":["2160-1836"]},"type":"journal_article","year":"2023","article_type":"original","date_created":"2023-08-18T06:52:14Z","author":[{"orcid":"0000-0001-8330-1754","last_name":"Puixeu Sala","first_name":"Gemma","full_name":"Puixeu Sala, Gemma","id":"33AB266C-F248-11E8-B48F-1D18A9856A87"},{"last_name":"Macon","first_name":"Ariana","id":"2A0848E2-F248-11E8-B48F-1D18A9856A87","full_name":"Macon, Ariana"},{"id":"49E1C5C6-F248-11E8-B48F-1D18A9856A87","full_name":"Vicoso, Beatriz","last_name":"Vicoso","first_name":"Beatriz","orcid":"0000-0002-4579-8306"}],"ddc":["570"],"language":[{"iso":"eng"}],"file_date_updated":"2023-11-07T09:00:19Z","intvolume":"        13","doi":"10.1093/g3journal/jkad121","file":[{"date_created":"2023-11-07T09:00:19Z","success":1,"file_id":"14498","checksum":"c62e29fc7c5efbf8356f4c60cab4a2d1","creator":"dernst","file_name":"2023_G3_Puixeu.pdf","access_level":"open_access","file_size":845642,"content_type":"application/pdf","date_updated":"2023-11-07T09:00:19Z","relation":"main_file"}],"project":[{"name":"International IST Doctoral Program","call_identifier":"H2020","grant_number":"665385","_id":"2564DBCA-B435-11E9-9278-68D0E5697425"},{"_id":"9B9DFC9E-BA93-11EA-9121-9846C619BF3A","grant_number":"25817","name":"Sexual conflict: resolution, constraints and biomedical implications"}],"oa":1,"publication_status":"published","pmid":1,"issue":"8","ec_funded":1,"department":[{"_id":"BeVi"},{"_id":"NiBa"},{"_id":"GradSch"}],"_id":"14077","user_id":"2DF688A6-F248-11E8-B48F-1D18A9856A87","has_accepted_license":"1","tmp":{"short":"CC BY (4.0)","name":"Creative Commons Attribution 4.0 International Public License (CC-BY 4.0)","image":"/images/cc_by.png","legal_code_url":"https://creativecommons.org/licenses/by/4.0/legalcode"},"day":"01","publication":"G3: Genes, Genomes, Genetics","corr_author":"1"},{"publication":"Genetics in Medicine","day":"01","tmp":{"short":"CC BY (4.0)","name":"Creative Commons Attribution 4.0 International Public License (CC-BY 4.0)","image":"/images/cc_by.png","legal_code_url":"https://creativecommons.org/licenses/by/4.0/legalcode"},"has_accepted_license":"1","user_id":"2DF688A6-F248-11E8-B48F-1D18A9856A87","_id":"14368","issue":"11","intvolume":"        25","extern":"1","publication_status":"published","oa":1,"doi":"10.1016/j.gim.2023.100938","file":[{"date_updated":"2023-09-25T08:48:54Z","content_type":"application/pdf","relation":"main_file","file_size":4105513,"file_id":"14369","success":1,"date_created":"2023-09-25T08:48:54Z","access_level":"open_access","file_name":"2023_GeneticsMedicine_Accogli.pdf","creator":"dernst","checksum":"440f0cd8a2ffcbe03c015c1746728387"}],"language":[{"iso":"eng"}],"ddc":["570"],"author":[{"full_name":"Accogli, Andrea","last_name":"Accogli","first_name":"Andrea"},{"first_name":"Sheng-Jia","last_name":"Lin","full_name":"Lin, Sheng-Jia"},{"first_name":"Mariasavina","last_name":"Severino","full_name":"Severino, Mariasavina"},{"last_name":"Kim","first_name":"Sung-Hoon","full_name":"Kim, Sung-Hoon"},{"first_name":"Kevin","last_name":"Huang","orcid":"0000-0002-2512-7812","id":"3b3d2888-1ff6-11ee-9fa6-8f209ca91fe3","full_name":"Huang, Kevin"},{"full_name":"Rocca, Clarissa","last_name":"Rocca","first_name":"Clarissa"},{"last_name":"Landsverk","first_name":"Megan","full_name":"Landsverk, Megan"},{"first_name":"Maha S.","last_name":"Zaki","full_name":"Zaki, Maha S."},{"full_name":"Al-Maawali, Almundher","first_name":"Almundher","last_name":"Al-Maawali"},{"full_name":"Srinivasan, Varunvenkat M.","last_name":"Srinivasan","first_name":"Varunvenkat M."},{"full_name":"Al-Thihli, Khalid","last_name":"Al-Thihli","first_name":"Khalid"},{"full_name":"Schaefer, G. Bradly","first_name":"G. Bradly","last_name":"Schaefer"},{"full_name":"Davis, Monica","last_name":"Davis","first_name":"Monica"},{"full_name":"Tonduti, Davide","first_name":"Davide","last_name":"Tonduti"},{"full_name":"Doneda, Chiara","last_name":"Doneda","first_name":"Chiara"},{"full_name":"Marten, Lara M.","last_name":"Marten","first_name":"Lara M."},{"full_name":"Mühlhausen, Chris","last_name":"Mühlhausen","first_name":"Chris"},{"last_name":"Gomez","first_name":"Maria","full_name":"Gomez, Maria"},{"last_name":"Lamantea","first_name":"Eleonora","full_name":"Lamantea, Eleonora"},{"last_name":"Mena","first_name":"Rafael","full_name":"Mena, Rafael"},{"full_name":"Nizon, Mathilde","last_name":"Nizon","first_name":"Mathilde"},{"last_name":"Procaccio","first_name":"Vincent","full_name":"Procaccio, Vincent"},{"first_name":"Amber","last_name":"Begtrup","full_name":"Begtrup, Amber"},{"full_name":"Telegrafi, Aida","last_name":"Telegrafi","first_name":"Aida"},{"last_name":"Cui","first_name":"Hong","full_name":"Cui, Hong"},{"full_name":"Schulz, Heidi L.","first_name":"Heidi L.","last_name":"Schulz"},{"last_name":"Mohr","first_name":"Julia","full_name":"Mohr, Julia"},{"full_name":"Biskup, Saskia","last_name":"Biskup","first_name":"Saskia"},{"first_name":"Mariana Amina","last_name":"Loos","full_name":"Loos, Mariana Amina"},{"last_name":"Aráoz","first_name":"Hilda Verónica","full_name":"Aráoz, Hilda Verónica"},{"full_name":"Salpietro, Vincenzo","first_name":"Vincenzo","last_name":"Salpietro"},{"last_name":"Keppen","first_name":"Laura Davis","full_name":"Keppen, Laura Davis"},{"full_name":"Chitre, Manali","first_name":"Manali","last_name":"Chitre"},{"first_name":"Cassidy","last_name":"Petree","full_name":"Petree, Cassidy"},{"full_name":"Raymond, Lucy","first_name":"Lucy","last_name":"Raymond"},{"last_name":"Vogt","first_name":"Julie","full_name":"Vogt, Julie"},{"last_name":"Sawyer","first_name":"Lindsey B.","full_name":"Sawyer, Lindsey B."},{"full_name":"Basinger, Alice A.","last_name":"Basinger","first_name":"Alice A."},{"last_name":"Pedersen","first_name":"Signe Vandal","full_name":"Pedersen, Signe Vandal"},{"last_name":"Pearson","first_name":"Toni S.","full_name":"Pearson, Toni S."},{"last_name":"Grange","first_name":"Dorothy K.","full_name":"Grange, Dorothy K."},{"full_name":"Lingappa, Lokesh","last_name":"Lingappa","first_name":"Lokesh"},{"first_name":"Paige","last_name":"McDunnah","full_name":"McDunnah, Paige"},{"full_name":"Horvath, Rita","last_name":"Horvath","first_name":"Rita"},{"first_name":"Benjamin","last_name":"Cognè","full_name":"Cognè, Benjamin"},{"first_name":"Bertrand","last_name":"Isidor","full_name":"Isidor, Bertrand"},{"full_name":"Hahn, Andreas","first_name":"Andreas","last_name":"Hahn"},{"last_name":"Gripp","first_name":"Karen W.","full_name":"Gripp, Karen W."},{"last_name":"Jafarnejad","first_name":"Seyed Mehdi","full_name":"Jafarnejad, Seyed Mehdi"},{"last_name":"Østergaard","first_name":"Elsebet","full_name":"Østergaard, Elsebet"},{"full_name":"Prada, Carlos E.","last_name":"Prada","first_name":"Carlos E."},{"full_name":"Ghezzi, Daniele","first_name":"Daniele","last_name":"Ghezzi"},{"last_name":"Gowda","first_name":"Vykuntaraju K.","full_name":"Gowda, Vykuntaraju K."},{"full_name":"Taylor, Robert W.","first_name":"Robert W.","last_name":"Taylor"},{"full_name":"Sonenberg, Nahum","first_name":"Nahum","last_name":"Sonenberg"},{"last_name":"Houlden","first_name":"Henry","full_name":"Houlden, Henry"},{"first_name":"Marie","last_name":"Sissler","full_name":"Sissler, Marie"},{"first_name":"Gaurav K.","last_name":"Varshney","full_name":"Varshney, Gaurav K."},{"full_name":"Maroofian, Reza","last_name":"Maroofian","first_name":"Reza"}],"file_date_updated":"2023-09-25T08:48:54Z","article_type":"original","date_created":"2023-09-25T08:44:29Z","year":"2023","status":"public","type":"journal_article","publication_identifier":{"issn":["1098-3600"]},"publisher":"Elsevier","article_number":"100938","scopus_import":"1","keyword":["Genetics (clinical)"],"abstract":[{"lang":"eng","text":"Purpose: \r\nBiallelic variants in TARS2, encoding the mitochondrial threonyl-tRNA-synthetase, have been reported in a small group of individuals displaying a neurodevelopmental phenotype but with limited neuroradiological data and insufficient evidence for causality of the variants.\r\nMethods:\r\nExome or genome sequencing was carried out in 15 families. Clinical and neuroradiological evaluation was performed for all affected individuals, including review of 10 previously reported individuals. The pathogenicity of TARS2 variants was evaluated using in vitro assays and a zebrafish model.\r\nResults:\r\nWe report 18 new individuals harboring biallelic TARS2 variants. Phenotypically, these individuals show developmental delay/intellectual disability, regression, cerebellar and cerebral atrophy, basal ganglia signal alterations, hypotonia, cerebellar signs, and increased blood lactate. In vitro studies showed that variants within the TARS2301-381 region had decreased binding to Rag GTPases, likely impairing mTORC1 activity. The zebrafish model recapitulated key features of the human phenotype and unraveled dysregulation of downstream targets of mTORC1 signaling. Functional testing of the variants confirmed the pathogenicity in a zebrafish model.\r\nConclusion:\r\nWe define the clinico-radiological spectrum of TARS2-related mitochondrial disease, unveil the likely involvement of the mTORC1 signaling pathway as a distinct molecular mechanism, and establish a TARS2 zebrafish model as an important tool to study variant pathogenicity."}],"citation":{"ama":"Accogli A, Lin S-J, Severino M, et al. Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder. <i>Genetics in Medicine</i>. 2023;25(11). doi:<a href=\"https://doi.org/10.1016/j.gim.2023.100938\">10.1016/j.gim.2023.100938</a>","ieee":"A. Accogli <i>et al.</i>, “Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder,” <i>Genetics in Medicine</i>, vol. 25, no. 11. Elsevier, 2023.","mla":"Accogli, Andrea, et al. “Clinical, Neuroradiological, and Molecular Characterization of Mitochondrial Threonyl-TRNA-Synthetase (TARS2)-Related Disorder.” <i>Genetics in Medicine</i>, vol. 25, no. 11, 100938, Elsevier, 2023, doi:<a href=\"https://doi.org/10.1016/j.gim.2023.100938\">10.1016/j.gim.2023.100938</a>.","short":"A. Accogli, S.-J. Lin, M. Severino, S.-H. Kim, K. Huang, C. Rocca, M. Landsverk, M.S. Zaki, A. Al-Maawali, V.M. Srinivasan, K. Al-Thihli, G.B. Schaefer, M. Davis, D. Tonduti, C. Doneda, L.M. Marten, C. Mühlhausen, M. Gomez, E. Lamantea, R. Mena, M. Nizon, V. Procaccio, A. Begtrup, A. Telegrafi, H. Cui, H.L. Schulz, J. Mohr, S. Biskup, M.A. Loos, H.V. Aráoz, V. Salpietro, L.D. Keppen, M. Chitre, C. Petree, L. Raymond, J. Vogt, L.B. Sawyer, A.A. Basinger, S.V. Pedersen, T.S. Pearson, D.K. Grange, L. Lingappa, P. McDunnah, R. Horvath, B. Cognè, B. Isidor, A. Hahn, K.W. Gripp, S.M. Jafarnejad, E. Østergaard, C.E. Prada, D. Ghezzi, V.K. Gowda, R.W. Taylor, N. Sonenberg, H. Houlden, M. Sissler, G.K. Varshney, R. Maroofian, Genetics in Medicine 25 (2023).","ista":"Accogli A, Lin S-J, Severino M, Kim S-H, Huang K, Rocca C, Landsverk M, Zaki MS, Al-Maawali A, Srinivasan VM, Al-Thihli K, Schaefer GB, Davis M, Tonduti D, Doneda C, Marten LM, Mühlhausen C, Gomez M, Lamantea E, Mena R, Nizon M, Procaccio V, Begtrup A, Telegrafi A, Cui H, Schulz HL, Mohr J, Biskup S, Loos MA, Aráoz HV, Salpietro V, Keppen LD, Chitre M, Petree C, Raymond L, Vogt J, Sawyer LB, Basinger AA, Pedersen SV, Pearson TS, Grange DK, Lingappa L, McDunnah P, Horvath R, Cognè B, Isidor B, Hahn A, Gripp KW, Jafarnejad SM, Østergaard E, Prada CE, Ghezzi D, Gowda VK, Taylor RW, Sonenberg N, Houlden H, Sissler M, Varshney GK, Maroofian R. 2023. Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder. Genetics in Medicine. 25(11), 100938.","apa":"Accogli, A., Lin, S.-J., Severino, M., Kim, S.-H., Huang, K., Rocca, C., … Maroofian, R. (2023). Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder. <i>Genetics in Medicine</i>. Elsevier. <a href=\"https://doi.org/10.1016/j.gim.2023.100938\">https://doi.org/10.1016/j.gim.2023.100938</a>","chicago":"Accogli, Andrea, Sheng-Jia Lin, Mariasavina Severino, Sung-Hoon Kim, Kevin Huang, Clarissa Rocca, Megan Landsverk, et al. “Clinical, Neuroradiological, and Molecular Characterization of Mitochondrial Threonyl-TRNA-Synthetase (TARS2)-Related Disorder.” <i>Genetics in Medicine</i>. Elsevier, 2023. <a href=\"https://doi.org/10.1016/j.gim.2023.100938\">https://doi.org/10.1016/j.gim.2023.100938</a>."},"oa_version":"Published Version","month":"11","quality_controlled":"1","date_updated":"2023-09-25T08:50:10Z","article_processing_charge":"No","date_published":"2023-11-01T00:00:00Z","title":"Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder","volume":25},{"user_id":"2DF688A6-F248-11E8-B48F-1D18A9856A87","_id":"14639","has_accepted_license":"1","tmp":{"short":"CC BY (4.0)","name":"Creative Commons Attribution 4.0 International Public License (CC-BY 4.0)","image":"/images/cc_by.png","legal_code_url":"https://creativecommons.org/licenses/by/4.0/legalcode"},"day":"23","publication":"Genome Medicine","year":"2023","date_created":"2023-12-04T08:10:55Z","article_type":"original","file_date_updated":"2023-12-04T08:15:43Z","author":[{"last_name":"Lin","first_name":"Sheng-Jia","full_name":"Lin, Sheng-Jia"},{"first_name":"Barbara","last_name":"Vona","full_name":"Vona, Barbara"},{"full_name":"Lau, Tracy","last_name":"Lau","first_name":"Tracy"},{"orcid":"0000-0002-2512-7812","last_name":"Huang","first_name":"Kevin","full_name":"Huang, Kevin","id":"3b3d2888-1ff6-11ee-9fa6-8f209ca91fe3"},{"first_name":"Maha S.","last_name":"Zaki","full_name":"Zaki, Maha S."},{"full_name":"Aldeen, Huda Shujaa","last_name":"Aldeen","first_name":"Huda Shujaa"},{"full_name":"Karimiani, Ehsan Ghayoor","first_name":"Ehsan Ghayoor","last_name":"Karimiani"},{"full_name":"Rocca, Clarissa","first_name":"Clarissa","last_name":"Rocca"},{"full_name":"Noureldeen, Mahmoud M.","last_name":"Noureldeen","first_name":"Mahmoud M."},{"full_name":"Saad, Ahmed K.","last_name":"Saad","first_name":"Ahmed K."},{"full_name":"Petree, Cassidy","first_name":"Cassidy","last_name":"Petree"},{"full_name":"Bartolomaeus, Tobias","last_name":"Bartolomaeus","first_name":"Tobias"},{"full_name":"Abou Jamra, Rami","first_name":"Rami","last_name":"Abou Jamra"},{"full_name":"Zifarelli, Giovanni","last_name":"Zifarelli","first_name":"Giovanni"},{"last_name":"Gotkhindikar","first_name":"Aditi","full_name":"Gotkhindikar, Aditi"},{"last_name":"Wentzensen","first_name":"Ingrid M.","full_name":"Wentzensen, Ingrid M."},{"first_name":"Mingjuan","last_name":"Liao","full_name":"Liao, Mingjuan"},{"first_name":"Emalyn Elise","last_name":"Cork","full_name":"Cork, Emalyn Elise"},{"full_name":"Varshney, Pratishtha","first_name":"Pratishtha","last_name":"Varshney"},{"full_name":"Hashemi, Narges","last_name":"Hashemi","first_name":"Narges"},{"first_name":"Mohammad Hasan","last_name":"Mohammadi","full_name":"Mohammadi, Mohammad Hasan"},{"full_name":"Rad, Aboulfazl","first_name":"Aboulfazl","last_name":"Rad"},{"first_name":"Juanita","last_name":"Neira","full_name":"Neira, Juanita"},{"full_name":"Toosi, Mehran Beiraghi","first_name":"Mehran Beiraghi","last_name":"Toosi"},{"full_name":"Knopp, Cordula","last_name":"Knopp","first_name":"Cordula"},{"last_name":"Kurth","first_name":"Ingo","full_name":"Kurth, Ingo"},{"full_name":"Challman, Thomas D.","first_name":"Thomas D.","last_name":"Challman"},{"full_name":"Smith, Rebecca","last_name":"Smith","first_name":"Rebecca"},{"first_name":"Asmahan","last_name":"Abdalla","full_name":"Abdalla, Asmahan"},{"last_name":"Haaf","first_name":"Thomas","full_name":"Haaf, Thomas"},{"last_name":"Suri","first_name":"Mohnish","full_name":"Suri, Mohnish"},{"last_name":"Joshi","first_name":"Manali","full_name":"Joshi, Manali"},{"last_name":"Chung","first_name":"Wendy K.","full_name":"Chung, Wendy K."},{"full_name":"Moreno-De-Luca, Andres","last_name":"Moreno-De-Luca","first_name":"Andres"},{"last_name":"Houlden","first_name":"Henry","full_name":"Houlden, Henry"},{"full_name":"Maroofian, Reza","first_name":"Reza","last_name":"Maroofian"},{"last_name":"Varshney","first_name":"Gaurav K.","full_name":"Varshney, Gaurav K."}],"ddc":["570"],"language":[{"iso":"eng"}],"file":[{"success":1,"file_id":"14640","date_created":"2023-12-04T08:15:43Z","file_name":"2023_GenomeMed_Lin.pdf","access_level":"open_access","checksum":"279efd212005549aba817a487d56d363","creator":"dernst","content_type":"application/pdf","date_updated":"2023-12-04T08:15:43Z","relation":"main_file","file_size":14791081}],"doi":"10.1186/s13073-023-01258-4","publication_status":"published","oa":1,"extern":"1","intvolume":"        15","oa_version":"Published Version","article_number":"102","abstract":[{"text":"Background: Biallelic variants in OGDHL, encoding part of the α-ketoglutarate dehydrogenase complex, have been associated with highly heterogeneous neurological and neurodevelopmental disorders. However, the validity of this association remains to be confirmed. A second OGDHL patient cohort was recruited to carefully assess the gene-disease relationship.\r\nMethods: Using an unbiased genotype-first approach, we screened large, multiethnic aggregated sequencing datasets worldwide for biallelic OGDHL variants. We used CRISPR/Cas9 to generate zebrafish knockouts of ogdhl, ogdh paralogs, and dhtkd1 to investigate functional relationships and impact during development. Functional complementation with patient variant transcripts was conducted to systematically assess protein functionality as a readout for pathogenicity.\r\nResults: A cohort of 14 individuals from 12 unrelated families exhibited highly variable clinical phenotypes, with the majority of them presenting at least one additional variant, potentially accounting for a blended phenotype and complicating phenotypic understanding. We also uncovered extreme clinical heterogeneity and high allele frequencies, occasionally incompatible with a fully penetrant recessive disorder. Human cDNA of previously described and new variants were tested in an ogdhl zebrafish knockout model, adding functional evidence for variant reclassification. We disclosed evidence of hypomorphic alleles as well as a loss-of-function variant without deleterious effects in zebrafish variant testing also showing discordant familial segregation, challenging the relationship of OGDHL as a conventional Mendelian gene. Going further, we uncovered evidence for a complex compensatory relationship among OGDH, OGDHL, and DHTKD1 isoenzymes that are associated with neurodevelopmental disorders and exhibit complex transcriptional compensation patterns with partial functional redundancy.\r\nConclusions: Based on the results of genetic, clinical, and functional studies, we formed three hypotheses in which to frame observations: biallelic OGDHL variants lead to a highly variable monogenic disorder, variants in OGDHL are following a complex pattern of inheritance, or they may not be causative at all. Our study further highlights the continuing challenges of assessing the validity of reported disease-gene associations and effects of variants identified in these genes. This is particularly more complicated in making genetic diagnoses based on identification of variants in genes presenting a highly heterogenous phenotype such as “OGDHL-related disorders”.","lang":"eng"}],"keyword":["Genetics (clinical)","Genetics","Molecular Biology","Molecular Medicine"],"citation":{"mla":"Lin, Sheng-Jia, et al. “Evaluating the Association of Biallelic OGDHL Variants with Significant Phenotypic Heterogeneity.” <i>Genome Medicine</i>, vol. 15, 102, Springer Nature, 2023, doi:<a href=\"https://doi.org/10.1186/s13073-023-01258-4\">10.1186/s13073-023-01258-4</a>.","ista":"Lin S-J, Vona B, Lau T, Huang K, Zaki MS, Aldeen HS, Karimiani EG, Rocca C, Noureldeen MM, Saad AK, Petree C, Bartolomaeus T, Abou Jamra R, Zifarelli G, Gotkhindikar A, Wentzensen IM, Liao M, Cork EE, Varshney P, Hashemi N, Mohammadi MH, Rad A, Neira J, Toosi MB, Knopp C, Kurth I, Challman TD, Smith R, Abdalla A, Haaf T, Suri M, Joshi M, Chung WK, Moreno-De-Luca A, Houlden H, Maroofian R, Varshney GK. 2023. Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity. Genome Medicine. 15, 102.","short":"S.-J. Lin, B. Vona, T. Lau, K. Huang, M.S. Zaki, H.S. Aldeen, E.G. Karimiani, C. Rocca, M.M. Noureldeen, A.K. Saad, C. Petree, T. Bartolomaeus, R. Abou Jamra, G. Zifarelli, A. Gotkhindikar, I.M. Wentzensen, M. Liao, E.E. Cork, P. Varshney, N. Hashemi, M.H. Mohammadi, A. Rad, J. Neira, M.B. Toosi, C. Knopp, I. Kurth, T.D. Challman, R. Smith, A. Abdalla, T. Haaf, M. Suri, M. Joshi, W.K. Chung, A. Moreno-De-Luca, H. Houlden, R. Maroofian, G.K. Varshney, Genome Medicine 15 (2023).","apa":"Lin, S.-J., Vona, B., Lau, T., Huang, K., Zaki, M. S., Aldeen, H. S., … Varshney, G. K. (2023). Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity. <i>Genome Medicine</i>. Springer Nature. <a href=\"https://doi.org/10.1186/s13073-023-01258-4\">https://doi.org/10.1186/s13073-023-01258-4</a>","chicago":"Lin, Sheng-Jia, Barbara Vona, Tracy Lau, Kevin Huang, Maha S. Zaki, Huda Shujaa Aldeen, Ehsan Ghayoor Karimiani, et al. “Evaluating the Association of Biallelic OGDHL Variants with Significant Phenotypic Heterogeneity.” <i>Genome Medicine</i>. Springer Nature, 2023. <a href=\"https://doi.org/10.1186/s13073-023-01258-4\">https://doi.org/10.1186/s13073-023-01258-4</a>.","ama":"Lin S-J, Vona B, Lau T, et al. Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity. <i>Genome Medicine</i>. 2023;15. doi:<a href=\"https://doi.org/10.1186/s13073-023-01258-4\">10.1186/s13073-023-01258-4</a>","ieee":"S.-J. Lin <i>et al.</i>, “Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity,” <i>Genome Medicine</i>, vol. 15. Springer Nature, 2023."},"publisher":"Springer Nature","publication_identifier":{"issn":["1756-994X"]},"type":"journal_article","status":"public","volume":15,"title":"Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity","article_processing_charge":"Yes","date_published":"2023-11-23T00:00:00Z","quality_controlled":"1","date_updated":"2023-12-04T08:17:22Z","month":"11"},{"month":"11","external_id":{"pmid":["37604585"],"isi":["001096272600001"]},"date_updated":"2026-06-18T17:37:44Z","quality_controlled":"1","title":"The impact of chromosomal rearrangements in speciation: From micro- to macroevolution","article_processing_charge":"No","date_published":"2023-11-01T00:00:00Z","acknowledgement":"K.L. was funded by a Swiss National Science Foundation Eccellenza project: The evolution of strong reproductive barriers towards the completion of speciation (PCEFP3_202869). R.F.\r\nwas funded by an FCT CEEC (Fundação para a Ciênca e a Tecnologia, Concurso Estímulo ao\r\nEmprego Científico) contract (2020.00275. CEECIND) and by an FCT research project\r\n(PTDC/BIA-EVL/1614/2021). M.R. was funded by the Swedish Research Council Vetenskapsrådet (grant number 2021-05243). A.M.W. was partly funded by the Norwegian Research Council RCN. We thank Luis Silva for his help preparing Figure 1. We are grateful to Maren Wellenreuther, Daniel Bolnick, and two anonymous reviewers for their constructive feedback on an earlier version of this paper.","isi":1,"volume":15,"type":"journal_article","publication_identifier":{"issn":["1943-0264"]},"status":"public","publisher":"Cold Spring Harbor Laboratory Press","main_file_link":[{"url":"https://doi.org/10.1101/cshperspect.a041447","open_access":"1"}],"article_number":"a041447","citation":{"ieee":"K. Lucek <i>et al.</i>, “The impact of chromosomal rearrangements in speciation: From micro- to macroevolution,” <i>Cold Spring Harbor Perspectives in Biology</i>, vol. 15, no. 11. Cold Spring Harbor Laboratory Press, 2023.","ama":"Lucek K, Giménez MD, Joron M, et al. The impact of chromosomal rearrangements in speciation: From micro- to macroevolution. <i>Cold Spring Harbor Perspectives in Biology</i>. 2023;15(11). doi:<a href=\"https://doi.org/10.1101/cshperspect.a041447\">10.1101/cshperspect.a041447</a>","chicago":"Lucek, Kay, Mabel D. Giménez, Mathieu Joron, Marina Rafajlović, Jeremy B. Searle, Nora Walden, Anja M Westram, and Rui Faria. “The Impact of Chromosomal Rearrangements in Speciation: From Micro- to Macroevolution.” <i>Cold Spring Harbor Perspectives in Biology</i>. Cold Spring Harbor Laboratory Press, 2023. <a href=\"https://doi.org/10.1101/cshperspect.a041447\">https://doi.org/10.1101/cshperspect.a041447</a>.","apa":"Lucek, K., Giménez, M. D., Joron, M., Rafajlović, M., Searle, J. B., Walden, N., … Faria, R. (2023). The impact of chromosomal rearrangements in speciation: From micro- to macroevolution. <i>Cold Spring Harbor Perspectives in Biology</i>. Cold Spring Harbor Laboratory Press. <a href=\"https://doi.org/10.1101/cshperspect.a041447\">https://doi.org/10.1101/cshperspect.a041447</a>","short":"K. Lucek, M.D. Giménez, M. Joron, M. Rafajlović, J.B. Searle, N. Walden, A.M. Westram, R. Faria, Cold Spring Harbor Perspectives in Biology 15 (2023).","ista":"Lucek K, Giménez MD, Joron M, Rafajlović M, Searle JB, Walden N, Westram AM, Faria R. 2023. The impact of chromosomal rearrangements in speciation: From micro- to macroevolution. Cold Spring Harbor Perspectives in Biology. 15(11), a041447.","mla":"Lucek, Kay, et al. “The Impact of Chromosomal Rearrangements in Speciation: From Micro- to Macroevolution.” <i>Cold Spring Harbor Perspectives in Biology</i>, vol. 15, no. 11, a041447, Cold Spring Harbor Laboratory Press, 2023, doi:<a href=\"https://doi.org/10.1101/cshperspect.a041447\">10.1101/cshperspect.a041447</a>."},"abstract":[{"lang":"eng","text":"Chromosomal rearrangements (CRs) have been known since almost the beginning of genetics.\r\nWhile an important role for CRs in speciation has been suggested, evidence primarily stems\r\nfrom theoretical and empirical studies focusing on the microevolutionary level (i.e., on taxon\r\npairs where speciation is often incomplete). Although the role of CRs in eukaryotic speciation at\r\na macroevolutionary level has been supported by associations between species diversity and\r\nrates of evolution of CRs across phylogenies, these findings are limited to a restricted range of\r\nCRs and taxa. Now that more broadly applicable and precise CR detection approaches have\r\nbecome available, we address the challenges in filling some of the conceptual and empirical\r\ngaps between micro- and macroevolutionary studies on the role of CRs in speciation. We\r\nsynthesize what is known about the macroevolutionary impact of CRs and suggest new research avenues to overcome the pitfalls of previous studies to gain a more comprehensive understanding of the evolutionary significance of CRs in speciation across the tree of life."}],"scopus_import":"1","keyword":["General Biochemistry","Genetics and Molecular Biology"],"oa_version":"Published Version","oa":1,"publication_status":"published","doi":"10.1101/cshperspect.a041447","intvolume":"        15","language":[{"iso":"eng"}],"ddc":["570"],"author":[{"full_name":"Lucek, Kay","last_name":"Lucek","first_name":"Kay"},{"full_name":"Giménez, Mabel D.","first_name":"Mabel D.","last_name":"Giménez"},{"last_name":"Joron","first_name":"Mathieu","full_name":"Joron, Mathieu"},{"last_name":"Rafajlović","first_name":"Marina","full_name":"Rafajlović, Marina"},{"full_name":"Searle, Jeremy B.","last_name":"Searle","first_name":"Jeremy B."},{"full_name":"Walden, Nora","first_name":"Nora","last_name":"Walden"},{"orcid":"0000-0003-1050-4969","last_name":"Westram","first_name":"Anja M","full_name":"Westram, Anja M","id":"3C147470-F248-11E8-B48F-1D18A9856A87"},{"full_name":"Faria, Rui","first_name":"Rui","last_name":"Faria"}],"date_created":"2024-01-08T12:43:48Z","article_type":"original","year":"2023","publication":"Cold Spring Harbor Perspectives in Biology","day":"01","user_id":"2DF688A6-F248-11E8-B48F-1D18A9856A87","_id":"14742","issue":"11","department":[{"_id":"NiBa"},{"_id":"BeVi"}],"pmid":1},{"acknowledgement":"We thank Celeste Brennecka for editing and Michal Reichman-Fried for critical comments on the manuscript. We thank Ursula Jordan, Esther Messerschmidt, and Ines Sandbote for technical assistance. This work was supported by funding from the University of Münster (K.J.W., K.T., E.R., A.G., T.G.-T., J.S., and M.G.), the Max Planck Institute for Molecular Biomedicine (D.Z.), the German Research Foundation grant CRU 326 (P2) RA863/12-2 (E.R.), Baylor University (K.H. and D.R.), and the National Institutes of Health grant R35 GM 134910 (D.R.). We thank the referees for insightful comments that helped improve the manuscript.","article_processing_charge":"No","date_published":"2023-09-11T00:00:00Z","title":"Spatial organization and function of RNA molecules within phase-separated condensates in zebrafish are controlled by Dnd1","volume":58,"month":"09","quality_controlled":"1","date_updated":"2024-01-16T08:56:36Z","external_id":{"pmid":["37463577"]},"main_file_link":[{"url":"https://www.biorxiv.org/content/10.1101/2023.07.09.548244","open_access":"1"}],"publisher":"Elsevier","oa_version":"Preprint","keyword":["Developmental Biology","Cell Biology","General Biochemistry","Genetics and Molecular Biology","Molecular Biology"],"abstract":[{"text":"Germ granules, condensates of phase-separated RNA and protein, are organelles that are essential for germline development in different organisms. The patterning of the granules and their relevance for germ cell fate are not fully understood. Combining three-dimensional in vivo structural and functional analyses, we study the dynamic spatial organization of molecules within zebrafish germ granules. We find that the localization of RNA molecules to the periphery of the granules, where ribosomes are localized, depends on translational activity at this location. In addition, we find that the vertebrate-specific Dead end (Dnd1) protein is essential for nanos3 RNA localization at the condensates’ periphery. Accordingly, in the absence of Dnd1, or when translation is inhibited, nanos3 RNA translocates into the granule interior, away from the ribosomes, a process that is correlated with the loss of germ cell fate. These findings highlight the relevance of sub-granule compartmentalization for post-transcriptional control and its importance for preserving germ cell totipotency.","lang":"eng"}],"citation":{"ieee":"K. J. Westerich <i>et al.</i>, “Spatial organization and function of RNA molecules within phase-separated condensates in zebrafish are controlled by Dnd1,” <i>Developmental Cell</i>, vol. 58, no. 17. Elsevier, p. 1578–1592.e5, 2023.","ama":"Westerich KJ, Tarbashevich K, Schick J, et al. Spatial organization and function of RNA molecules within phase-separated condensates in zebrafish are controlled by Dnd1. <i>Developmental Cell</i>. 2023;58(17):1578-1592.e5. doi:<a href=\"https://doi.org/10.1016/j.devcel.2023.06.009\">10.1016/j.devcel.2023.06.009</a>","apa":"Westerich, K. J., Tarbashevich, K., Schick, J., Gupta, A., Zhu, M., Hull, K., … Raz, E. (2023). Spatial organization and function of RNA molecules within phase-separated condensates in zebrafish are controlled by Dnd1. <i>Developmental Cell</i>. Elsevier. <a href=\"https://doi.org/10.1016/j.devcel.2023.06.009\">https://doi.org/10.1016/j.devcel.2023.06.009</a>","chicago":"Westerich, Kim Joana, Katsiaryna Tarbashevich, Jan Schick, Antra Gupta, Mingzhao Zhu, Kenneth Hull, Daniel Romo, et al. “Spatial Organization and Function of RNA Molecules within Phase-Separated Condensates in Zebrafish Are Controlled by Dnd1.” <i>Developmental Cell</i>. Elsevier, 2023. <a href=\"https://doi.org/10.1016/j.devcel.2023.06.009\">https://doi.org/10.1016/j.devcel.2023.06.009</a>.","mla":"Westerich, Kim Joana, et al. “Spatial Organization and Function of RNA Molecules within Phase-Separated Condensates in Zebrafish Are Controlled by Dnd1.” <i>Developmental Cell</i>, vol. 58, no. 17, Elsevier, 2023, p. 1578–1592.e5, doi:<a href=\"https://doi.org/10.1016/j.devcel.2023.06.009\">10.1016/j.devcel.2023.06.009</a>.","ista":"Westerich KJ, Tarbashevich K, Schick J, Gupta A, Zhu M, Hull K, Romo D, Zeuschner D, Goudarzi M, Gross-Thebing T, Raz E. 2023. Spatial organization and function of RNA molecules within phase-separated condensates in zebrafish are controlled by Dnd1. Developmental Cell. 58(17), 1578–1592.e5.","short":"K.J. Westerich, K. Tarbashevich, J. Schick, A. Gupta, M. Zhu, K. Hull, D. Romo, D. Zeuschner, M. Goudarzi, T. Gross-Thebing, E. Raz, Developmental Cell 58 (2023) 1578–1592.e5."},"status":"public","publication_identifier":{"issn":["1534-5807"]},"type":"journal_article","article_type":"original","date_created":"2024-01-10T09:41:21Z","year":"2023","intvolume":"        58","doi":"10.1016/j.devcel.2023.06.009","publication_status":"published","oa":1,"author":[{"last_name":"Westerich","first_name":"Kim Joana","full_name":"Westerich, Kim Joana"},{"full_name":"Tarbashevich, Katsiaryna","last_name":"Tarbashevich","first_name":"Katsiaryna"},{"last_name":"Schick","first_name":"Jan","full_name":"Schick, Jan"},{"full_name":"Gupta, Antra","last_name":"Gupta","first_name":"Antra"},{"first_name":"Mingzhao","last_name":"Zhu","full_name":"Zhu, Mingzhao"},{"first_name":"Kenneth","last_name":"Hull","full_name":"Hull, Kenneth"},{"full_name":"Romo, Daniel","first_name":"Daniel","last_name":"Romo"},{"first_name":"Dagmar","last_name":"Zeuschner","full_name":"Zeuschner, Dagmar"},{"id":"3384113A-F248-11E8-B48F-1D18A9856A87","full_name":"Goudarzi, Mohammad","last_name":"Goudarzi","first_name":"Mohammad"},{"last_name":"Gross-Thebing","first_name":"Theresa","full_name":"Gross-Thebing, Theresa"},{"first_name":"Erez","last_name":"Raz","full_name":"Raz, Erez"}],"language":[{"iso":"eng"}],"page":"1578-1592.e5","pmid":1,"department":[{"_id":"Bio"}],"issue":"17","_id":"14781","user_id":"2DF688A6-F248-11E8-B48F-1D18A9856A87","publication":"Developmental Cell","day":"11"},{"page":"2041-2054","pmid":1,"department":[{"_id":"NiBa"}],"issue":"8","_id":"14787","user_id":"2DF688A6-F248-11E8-B48F-1D18A9856A87","publication":"Molecular Ecology","day":"01","article_type":"original","date_created":"2024-01-10T10:44:45Z","year":"2023","intvolume":"        32","doi":"10.1111/mec.16849","publication_status":"published","oa":1,"author":[{"id":"43161670-5719-11EA-8025-FABC3DDC885E","full_name":"Stankowski, Sean","last_name":"Stankowski","first_name":"Sean"},{"full_name":"Chase, Madeline A.","first_name":"Madeline A.","last_name":"Chase"},{"first_name":"Hanna","last_name":"McIntosh","full_name":"McIntosh, Hanna"},{"last_name":"Streisfeld","first_name":"Matthew A.","full_name":"Streisfeld, Matthew A."}],"language":[{"iso":"eng"}],"main_file_link":[{"url":"https://doi.org/10.1101/2022.01.28.478139","open_access":"1"}],"publisher":"Wiley","oa_version":"Preprint","keyword":["Genetics","Ecology","Evolution","Behavior and Systematics"],"abstract":[{"text":"Understanding the phenotypic and genetic architecture of reproductive isolation is a long‐standing goal of speciation research. In several systems, large‐effect loci contributing to barrier phenotypes have been characterized, but such causal connections are rarely known for more complex genetic architectures. In this study, we combine “top‐down” and “bottom‐up” approaches with demographic modelling toward an integrated understanding of speciation across a monkeyflower hybrid zone. Previous work suggests that pollinator visitation acts as a primary barrier to gene flow between two divergent red‐ and yellow‐flowered ecotypes of<jats:italic>Mimulus aurantiacus</jats:italic>. Several candidate isolating traits and anonymous single nucleotide polymorphism loci under divergent selection have been identified, but their genomic positions remain unknown. Here, we report findings from demographic analyses that indicate this hybrid zone formed by secondary contact, but that subsequent gene flow was restricted by widespread barrier loci across the genome. Using a novel, geographic cline‐based genome scan, we demonstrate that candidate barrier loci are broadly distributed across the genome, rather than mapping to one or a few “islands of speciation.” Quantitative trait locus (QTL) mapping reveals that most floral traits are highly polygenic, with little evidence that QTL colocalize, indicating that most traits are genetically independent. Finally, we find little evidence that QTL and candidate barrier loci overlap, suggesting that some loci contribute to other forms of reproductive isolation. Our findings highlight the challenges of understanding the genetic architecture of reproductive isolation and reveal that barriers to gene flow other than pollinator isolation may play an important role in this system.","lang":"eng"}],"citation":{"apa":"Stankowski, S., Chase, M. A., McIntosh, H., &#38; Streisfeld, M. A. (2023). Integrating top‐down and bottom‐up approaches to understand the genetic architecture of speciation across a monkeyflower hybrid zone. <i>Molecular Ecology</i>. Wiley. <a href=\"https://doi.org/10.1111/mec.16849\">https://doi.org/10.1111/mec.16849</a>","chicago":"Stankowski, Sean, Madeline A. Chase, Hanna McIntosh, and Matthew A. Streisfeld. “Integrating Top‐down and Bottom‐up Approaches to Understand the Genetic Architecture of Speciation across a Monkeyflower Hybrid Zone.” <i>Molecular Ecology</i>. Wiley, 2023. <a href=\"https://doi.org/10.1111/mec.16849\">https://doi.org/10.1111/mec.16849</a>.","mla":"Stankowski, Sean, et al. “Integrating Top‐down and Bottom‐up Approaches to Understand the Genetic Architecture of Speciation across a Monkeyflower Hybrid Zone.” <i>Molecular Ecology</i>, vol. 32, no. 8, Wiley, 2023, pp. 2041–54, doi:<a href=\"https://doi.org/10.1111/mec.16849\">10.1111/mec.16849</a>.","short":"S. Stankowski, M.A. Chase, H. McIntosh, M.A. Streisfeld, Molecular Ecology 32 (2023) 2041–2054.","ista":"Stankowski S, Chase MA, McIntosh H, Streisfeld MA. 2023. Integrating top‐down and bottom‐up approaches to understand the genetic architecture of speciation across a monkeyflower hybrid zone. Molecular Ecology. 32(8), 2041–2054.","ieee":"S. Stankowski, M. A. Chase, H. McIntosh, and M. A. Streisfeld, “Integrating top‐down and bottom‐up approaches to understand the genetic architecture of speciation across a monkeyflower hybrid zone,” <i>Molecular Ecology</i>, vol. 32, no. 8. Wiley, pp. 2041–2054, 2023.","ama":"Stankowski S, Chase MA, McIntosh H, Streisfeld MA. Integrating top‐down and bottom‐up approaches to understand the genetic architecture of speciation across a monkeyflower hybrid zone. <i>Molecular Ecology</i>. 2023;32(8):2041-2054. doi:<a href=\"https://doi.org/10.1111/mec.16849\">10.1111/mec.16849</a>"},"status":"public","publication_identifier":{"eissn":["1365-294X"],"issn":["0962-1083"]},"type":"journal_article","acknowledgement":"We thank Julian Catchen for making modifications to Stacks to aid this project. Peter L. Ralph, Thomas Nelson, Roger K. Butlin, Anja M. Westram and Nicholas H. Barton provided advice, stimulating discussion and critical feedback. The project was supported by National Science Foundation grant DEB-1258199.","isi":1,"date_published":"2023-04-01T00:00:00Z","article_processing_charge":"No","title":"Integrating top‐down and bottom‐up approaches to understand the genetic architecture of speciation across a monkeyflower hybrid zone","volume":32,"month":"04","date_updated":"2024-01-16T10:10:00Z","quality_controlled":"1","external_id":{"pmid":["36651268"],"isi":["000919244600001"]}},{"month":"12","quality_controlled":"1","date_updated":"2026-08-07T22:30:27Z","external_id":{"isi":["001122489000003"],"pmid":["37988296"]},"isi":1,"acknowledgement":"We thank the Vicoso lab for their assistance with specimen collection, and Tim Connallon for valuable comments and suggestions on earlier versions of the manuscript. Computational resources and support were provided by the Scientific Computing unit at the ISTA. This research was supported by grants from the Austrian Science Foundation to C.L.\r\n(FWF ESP 39), and to B.V. (FWF SFB F88-10).","date_published":"2023-12-01T00:00:00Z","article_processing_charge":"Yes","title":"The scorpionfly (Panorpa cognata) genome highlights conserved and derived features of the peculiar dipteran X chromosome","acknowledged_ssus":[{"_id":"ScienComp"}],"volume":40,"status":"public","publication_identifier":{"eissn":["1537-1719"],"issn":["0737-4038"]},"type":"journal_article","related_material":{"record":[{"status":"public","id":"14614","relation":"research_data"},{"id":"19386","relation":"dissertation_contains","status":"public"}],"link":[{"description":"News on ISTA webpage","url":"https://ista.ac.at/en/news/on-the-hunt/","relation":"press_release"}]},"publisher":"Oxford University Press","oa_version":"Published Version","keyword":["Genetics","Molecular Biology","Ecology","Evolution","Behavior and Systematics"],"scopus_import":"1","citation":{"ista":"Lasne C, Elkrewi MN, Toups MA, Layana Franco LA, Macon A, Vicoso B. 2023. The scorpionfly (Panorpa cognata) genome highlights conserved and derived features of the peculiar dipteran X chromosome. Molecular Biology and Evolution. 40(12), msad245.","short":"C. Lasne, M.N. Elkrewi, M.A. Toups, L.A. Layana Franco, A. Macon, B. Vicoso, Molecular Biology and Evolution 40 (2023).","mla":"Lasne, Clementine, et al. “The Scorpionfly (Panorpa Cognata) Genome Highlights Conserved and Derived Features of the Peculiar Dipteran X Chromosome.” <i>Molecular Biology and Evolution</i>, vol. 40, no. 12, msad245, Oxford University Press, 2023, doi:<a href=\"https://doi.org/10.1093/molbev/msad245\">10.1093/molbev/msad245</a>.","chicago":"Lasne, Clementine, Marwan N Elkrewi, Melissa A Toups, Lorena Alexandra Layana Franco, Ariana Macon, and Beatriz Vicoso. “The Scorpionfly (Panorpa Cognata) Genome Highlights Conserved and Derived Features of the Peculiar Dipteran X Chromosome.” <i>Molecular Biology and Evolution</i>. Oxford University Press, 2023. <a href=\"https://doi.org/10.1093/molbev/msad245\">https://doi.org/10.1093/molbev/msad245</a>.","apa":"Lasne, C., Elkrewi, M. N., Toups, M. A., Layana Franco, L. A., Macon, A., &#38; Vicoso, B. (2023). The scorpionfly (Panorpa cognata) genome highlights conserved and derived features of the peculiar dipteran X chromosome. <i>Molecular Biology and Evolution</i>. Oxford University Press. <a href=\"https://doi.org/10.1093/molbev/msad245\">https://doi.org/10.1093/molbev/msad245</a>","ama":"Lasne C, Elkrewi MN, Toups MA, Layana Franco LA, Macon A, Vicoso B. The scorpionfly (Panorpa cognata) genome highlights conserved and derived features of the peculiar dipteran X chromosome. <i>Molecular Biology and Evolution</i>. 2023;40(12). doi:<a href=\"https://doi.org/10.1093/molbev/msad245\">10.1093/molbev/msad245</a>","ieee":"C. Lasne, M. N. Elkrewi, M. A. Toups, L. A. Layana Franco, A. Macon, and B. Vicoso, “The scorpionfly (Panorpa cognata) genome highlights conserved and derived features of the peculiar dipteran X chromosome,” <i>Molecular Biology and Evolution</i>, vol. 40, no. 12. Oxford University Press, 2023."},"abstract":[{"lang":"eng","text":"Many insects carry an ancient X chromosome - the Drosophila Muller element F - that likely predates their origin. Interestingly, the X has undergone turnover in multiple fly species (Diptera) after being conserved for more than 450 MY. The long evolutionary distance between Diptera and other sequenced insect clades makes it difficult to infer what could have contributed to this sudden increase in rate of turnover. Here, we produce the first genome and transcriptome of a long overlooked sister-order to Diptera: Mecoptera. We compare the scorpionfly Panorpa cognata X-chromosome gene content, expression, and structure, to that of several dipteran species as well as more distantly-related insect orders (Orthoptera and Blattodea). We find high conservation of gene content between the mecopteran X and the dipteran Muller F element, as well as several shared biological features, such as the presence of dosage compensation and a low amount of genetic diversity, consistent with a low recombination rate. However, the two homologous X chromosomes differ strikingly in their size and number of genes they carry. Our results therefore support a common ancestry of the mecopteran and ancestral dipteran X chromosomes, and suggest that Muller element F shrank in size and gene content after the split of Diptera and Mecoptera, which may have contributed to its turnover in dipteran insects."}],"article_number":"msad245","intvolume":"        40","project":[{"name":"The highjacking of meiosis for asexual reproduction","grant_number":"F8810","_id":"34ae1506-11ca-11ed-8bc3-c14f4c474396"},{"_id":"ebb230e0-77a9-11ec-83b8-87a37e0241d3","grant_number":"ESP39 49461","name":"Mechanisms and Evolution of Reproductive Plasticity"}],"file":[{"file_id":"14727","success":1,"date_created":"2024-01-02T11:39:38Z","access_level":"open_access","file_name":"2023_MolecularBioEvo_Lasne.pdf","checksum":"47c1c72fb499f26ea52d216b242208c8","creator":"dernst","relation":"main_file","date_updated":"2024-01-02T11:39:38Z","content_type":"application/pdf","file_size":8623505}],"doi":"10.1093/molbev/msad245","oa":1,"publication_status":"published","author":[{"id":"02225f57-50d2-11eb-9ed8-8c92b9a34237","full_name":"Lasne, Clementine","last_name":"Lasne","first_name":"Clementine","orcid":"0000-0002-1197-8616"},{"full_name":"Elkrewi, Marwan N","id":"0B46FACA-A8E1-11E9-9BD3-79D1E5697425","orcid":"0000-0002-5328-7231","last_name":"Elkrewi","first_name":"Marwan N"},{"orcid":"0000-0002-9752-7380","first_name":"Melissa A","last_name":"Toups","full_name":"Toups, Melissa A","id":"4E099E4E-F248-11E8-B48F-1D18A9856A87"},{"last_name":"Layana Franco","first_name":"Lorena Alexandra","orcid":"0000-0002-1253-6297","id":"02814589-eb8f-11eb-b029-a70074f3f18f","full_name":"Layana Franco, Lorena Alexandra"},{"last_name":"Macon","first_name":"Ariana","id":"2A0848E2-F248-11E8-B48F-1D18A9856A87","full_name":"Macon, Ariana"},{"id":"49E1C5C6-F248-11E8-B48F-1D18A9856A87","full_name":"Vicoso, Beatriz","last_name":"Vicoso","first_name":"Beatriz","orcid":"0000-0002-4579-8306"}],"language":[{"iso":"eng"}],"ddc":["570"],"file_date_updated":"2024-01-02T11:39:38Z","article_type":"original","date_created":"2023-11-27T16:14:37Z","year":"2023","publication":"Molecular Biology and Evolution","corr_author":"1","day":"01","has_accepted_license":"1","tmp":{"short":"CC BY (4.0)","name":"Creative Commons Attribution 4.0 International Public License (CC-BY 4.0)","image":"/images/cc_by.png","legal_code_url":"https://creativecommons.org/licenses/by/4.0/legalcode"},"pmid":1,"department":[{"_id":"BeVi"}],"issue":"12","_id":"14613","user_id":"317138e5-6ab7-11ef-aa6d-ffef3953e345"},{"year":"2023","article_type":"original","date_created":"2023-01-12T12:09:17Z","author":[{"orcid":"0000-0002-1145-9226","first_name":"Daria","last_name":"Shipilina","full_name":"Shipilina, Daria","id":"428A94B0-F248-11E8-B48F-1D18A9856A87"},{"orcid":"0000-0002-4530-8469","last_name":"Pal","first_name":"Arka","full_name":"Pal, Arka","id":"6AAB2240-CA9A-11E9-9C1A-D9D1E5697425"},{"full_name":"Stankowski, Sean","id":"43161670-5719-11EA-8025-FABC3DDC885E","last_name":"Stankowski","first_name":"Sean"},{"first_name":"Yingguang Frank","last_name":"Chan","full_name":"Chan, Yingguang Frank"},{"id":"4880FE40-F248-11E8-B48F-1D18A9856A87","full_name":"Barton, Nicholas H","first_name":"Nicholas H","last_name":"Barton","orcid":"0000-0002-8548-5240"}],"ddc":["570"],"language":[{"iso":"eng"}],"file_date_updated":"2023-08-16T08:15:41Z","intvolume":"        32","project":[{"_id":"05959E1C-7A3F-11EA-A408-12923DDC885E","grant_number":"P32166","name":"Snapdragon Speciation"},{"name":"Formal methods for the design and analysis of complex systems","call_identifier":"FWF","grant_number":"Z211","_id":"25F42A32-B435-11E9-9278-68D0E5697425"},{"name":"Understanding the evolution of continuous genomes","grant_number":"101055327","_id":"bd6958e0-d553-11ed-ba76-86eba6a76c00"}],"file":[{"success":1,"file_id":"14062","date_created":"2023-08-16T08:15:41Z","file_name":"2023_MolecularEcology_Shipilina.pdf","access_level":"open_access","creator":"dernst","checksum":"b10e0f8fa3dc4d72aaf77a557200978a","date_updated":"2023-08-16T08:15:41Z","relation":"main_file","content_type":"application/pdf","file_size":7144607}],"doi":"10.1111/mec.16793","publication_status":"published","oa":1,"pmid":1,"issue":"6","department":[{"_id":"NiBa"}],"user_id":"2DF688A6-F248-11E8-B48F-1D18A9856A87","_id":"12159","has_accepted_license":"1","tmp":{"short":"CC BY (4.0)","name":"Creative Commons Attribution 4.0 International Public License (CC-BY 4.0)","image":"/images/cc_by.png","legal_code_url":"https://creativecommons.org/licenses/by/4.0/legalcode"},"page":"1441-1457","day":"01","publication":"Molecular Ecology","corr_author":"1","volume":32,"isi":1,"acknowledgement":"We thank the Barton group for useful discussion and feedback during the writing of this article. Comments from Roger Butlin, Molly Schumer's Group, the tskit development team, editors and three reviewers greatly improved the manuscript. Funding was provided by SCAS (Natural Sciences Programme, Knut and Alice Wallenberg Foundation), an FWF Wittgenstein grant (PT1001Z211), an FWF standalone grant (grant P 32166), and an ERC Advanced Grant. YFC was supported by the Max Planck Society and an ERC Proof of Concept Grant #101069216 (HAPLOTAGGING).","date_published":"2023-03-01T00:00:00Z","article_processing_charge":"Yes (via OA deal)","title":"On the origin and structure of haplotype blocks","date_updated":"2026-08-07T22:30:40Z","quality_controlled":"1","external_id":{"pmid":["36433653"],"isi":["000900762000001"]},"month":"03","oa_version":"Published Version","scopus_import":"1","abstract":[{"text":"The term “haplotype block” is commonly used in the developing field of haplotype-based inference methods. We argue that the term should be defined based on the structure of the Ancestral Recombination Graph (ARG), which contains complete information on the ancestry of a sample. We use simulated examples to demonstrate key features of the relationship between haplotype blocks and ancestral structure, emphasizing the stochasticity of the processes that generate them. Even the simplest cases of neutrality or of a “hard” selective sweep produce a rich structure, often missed by commonly used statistics. We highlight a number of novel methods for inferring haplotype structure, based on the full ARG, or on a sequence of trees, and illustrate how they can be used to define haplotype blocks using an empirical data set. While the advent of new, computationally efficient methods makes it possible to apply these concepts broadly, they (and additional new methods) could benefit from adding features to explore haplotype blocks, as we define them. Understanding and applying the concept of the haplotype block will be essential to fully exploit long and linked-read sequencing technologies.","lang":"eng"}],"keyword":["Genetics","Ecology","Evolution","Behavior and Systematics"],"citation":{"chicago":"Shipilina, Daria, Arka Pal, Sean Stankowski, Yingguang Frank Chan, and Nicholas H Barton. “On the Origin and Structure of Haplotype Blocks.” <i>Molecular Ecology</i>. Wiley, 2023. <a href=\"https://doi.org/10.1111/mec.16793\">https://doi.org/10.1111/mec.16793</a>.","apa":"Shipilina, D., Pal, A., Stankowski, S., Chan, Y. F., &#38; Barton, N. H. (2023). On the origin and structure of haplotype blocks. <i>Molecular Ecology</i>. Wiley. <a href=\"https://doi.org/10.1111/mec.16793\">https://doi.org/10.1111/mec.16793</a>","ista":"Shipilina D, Pal A, Stankowski S, Chan YF, Barton NH. 2023. On the origin and structure of haplotype blocks. Molecular Ecology. 32(6), 1441–1457.","short":"D. Shipilina, A. Pal, S. Stankowski, Y.F. Chan, N.H. Barton, Molecular Ecology 32 (2023) 1441–1457.","mla":"Shipilina, Daria, et al. “On the Origin and Structure of Haplotype Blocks.” <i>Molecular Ecology</i>, vol. 32, no. 6, Wiley, 2023, pp. 1441–57, doi:<a href=\"https://doi.org/10.1111/mec.16793\">10.1111/mec.16793</a>.","ieee":"D. Shipilina, A. Pal, S. Stankowski, Y. F. Chan, and N. H. Barton, “On the origin and structure of haplotype blocks,” <i>Molecular Ecology</i>, vol. 32, no. 6. Wiley, pp. 1441–1457, 2023.","ama":"Shipilina D, Pal A, Stankowski S, Chan YF, Barton NH. On the origin and structure of haplotype blocks. <i>Molecular Ecology</i>. 2023;32(6):1441-1457. doi:<a href=\"https://doi.org/10.1111/mec.16793\">10.1111/mec.16793</a>"},"publisher":"Wiley","related_material":{"record":[{"status":"public","relation":"dissertation_contains","id":"20694"}]},"status":"public","publication_identifier":{"eissn":["1365-294X"],"issn":["0962-1083"]},"type":"journal_article"}]