@article{15362,
  abstract     = {Constitutional heterozygous pathogenic variants in the exonuclease domain of POLE and POLD1, which affect the proofreading activity of the corresponding polymerases, cause a cancer predisposition syndrome characterized by increased risk of gastrointestinal polyposis, colorectal cancer, endometrial cancer and other tumor types. The generally accepted explanation for the connection between the disruption of the proofreading activity of polymerases epsilon and delta and cancer development is through an increase in the somatic mutation rate. Here we studied an extended family with multiple members heterozygous for the pathogenic POLD1 variant c.1421T>C p.(Leu474Pro), which segregates with the polyposis and cancer phenotypes. Through the analysis of mutational patterns of patient-derived fibroblasts colonies and de novo mutations obtained by parent-offspring comparisons, we concluded that heterozygous POLD1 L474P just subtly increases the somatic and germline mutation burden. In contrast, tumors developed in individuals with a heterozygous mutation in the exonuclease domain of POLD1, including L474P, have an extremely high mutation rate (>100 mut/Mb) associated with signature SBS10d. We solved this contradiction through the observation that tumorigenesis involves somatic inactivation of the wildtype POLD1 allele. These results imply that exonuclease deficiency of polymerase delta has a recessive effect on mutation rate.},
  author       = {Andrianova, Maria A. and Seplyarskiy, Vladimir B. and Terradas, Mariona and Sánchez-Heras, Ana Beatriz and Mur, Pilar and Soto, José Luis and Aiza, Gemma and Borràs, Emma and Kondrashov, Fyodor and Kondrashov, Alexey S. and Bazykin, Georgii A. and Valle, Laura},
  issn         = {1476-5438},
  journal      = {European Journal of Human Genetics},
  pages        = {837--845},
  publisher    = {Springer Nature},
  title        = {{Discovery of recessive effect of human polymerase δ proofreading deficiency through mutational analysis of POLD1-mutated normal and cancer cells}},
  doi          = {10.1038/s41431-024-01598-8},
  volume       = {32},
  year         = {2024},
}

@article{18444,
  abstract     = {Animals rely on compensatory actions to maintain stability and navigate their environment efficiently. These actions depend on global visual motion cues known as optic-flow. While the optomotor response has been the traditional focus for studying optic-flow compensation in insects, its simplicity has been insufficient to determine the role of the intricate optic-flow processing network involved in visual course control. Here, we reveal a series of course control behaviours in Drosophila and link them to specific neural circuits. We show that bilateral electrical coupling of optic-flow-sensitive neurons in the fly’s lobula plate are required for a proper course control. This electrical interaction works alongside chemical synapses within the HS-H2 network to control the dynamics and direction of turning behaviours. Our findings reveal how insects use bilateral motion cues for navigation, assigning a new functional significance to the HS-H2 network and suggesting a previously unknown role for gap junctions in non-linear operations.},
  author       = {Pokusaeva, Victoria and Satapathy, Roshan K and Symonova, Olga and Jösch, Maximilian A},
  issn         = {2041-1723},
  journal      = {Nature Communications},
  publisher    = {Springer Nature},
  title        = {{Bilateral interactions of optic-flow sensitive neurons coordinate course control in flies}},
  doi          = {10.1038/s41467-024-53173-w},
  volume       = {15},
  year         = {2024},
}

@misc{17488,
  abstract     = {Behavioural data for Pokusaeva, Satapathy et al. Relevant information can be found in the 'README.txt' file.},
  author       = {Satapathy, Roshan K and Jösch, Maximilian A and Symonova, Olga and Pokusaeva, Victoria},
  keywords     = {drosophila, behaviour, locomotion, gap junctions},
  publisher    = {Institute of Science and Technology Austria},
  title        = {{Bilateral interactions of optic-flow sensitive neurons coordinate course control in flies}},
  doi          = {10.15479/AT:ISTA:17488},
  year         = {2024},
}