---
OA_place: publisher
_id: '17119'
abstract:
- lang: eng
  text: "Genomes are shaped by natural selection at the level of the organism, as
    genomic variants that\r\nhave a beneficial effect on the viability or fecundity
    of their carriers are on average expected\r\nto be passed on to more offspring
    than less beneficial alleles. However, selection also favors\r\ngenomic variants
    that drive their own transmission to the next generation above the mendelian\r\nexpectation
    of 50 percent in heterozygotes, even if these self-promoting variants are less\r\nbeneficial
    to the organism than other variants at the same locus. Such variants, called meiotic\r\ndrivers,
    are found in diverse taxa, and often impose fitness costs on their host organisms.
    As\r\nmeiotic drivers often require multiple genes and sequences for transmission
    ratio distortion,\r\nthey are often found in regions of low recombination, such
    as inversions, which prevent their\r\nrecombination with the non-driving homologous
    regions. Reduced recombination rates are\r\nexpected to lead to the accumulation
    of deleterious mutations, which may affect hundreds\r\nof genes trapped in the
    inversions of meiotic drivers. Although the observed fitness costs of\r\nself-promoting
    haplotypes are thought to possibly reflect sequence degeneration, no study has\r\nsystematically
    investigated the level of degeneration on a meiotic driver. Further, the low\r\nrates
    of recombination between driving and non-driving haplotypes have limited the power
    of\r\ntraditional genetic studies in uncovering the gene content of meiotic drivers,
    and made the\r\nthe identification of the genes causing transmission ratio distortion
    difficult.\r\nAfter an introduction to meiotic drivers in Chapter 1, this thesis
    presents three studies that\r\nmake use of next generation sequencing data to
    characterize the sequence and expression\r\nevolution of genes on the t-haplotype,
    a large and ancient meiotic driver in house mice that is\r\ntransmitted to up
    to 100% of the offspring in males heterozygous for it. Chapter 2 presents\r\na
    comprehensive assessment of the t-haplotype’s sequence evolution, which shows
    signs of\r\nsequence degeneration counteracted by occasional recombination with
    the non-driving homolog\r\nover large parts of the meiotic driver, proposing an
    explanation for its long-term survival.\r\nChapter 3 investigates the sequence
    and expression evolution of genes on the t-haplotype,\r\nand finds widespread
    expression and copy number changes and signs of less efficient purifying\r\nselection
    compared to the genes on the non-driving homolog. Further, this chapter finds\r\ncandidates
    for involvment in drive: two positively selected genes on the t-haplotype, and\r\nthe
    discovery of a t-specific gene duplicate, which was gained from another chromosome,\r\nand
    which acquired novel sequence and testis-specific expression on the t-haplotype.
    Finally,\r\nChapter 4 provides unprecedented insights into the gene expression
    landscape in testes of\r\nt-carrier mice, using single nucleus sequencing. Cell-resolved
    RNA-sequencing allows the\r\ncomparison of expression in spermatids carrying or
    not carrying the t-haplotype as well as the\r\ntiming of t-haplotype-induced expression
    changes along spermatogenesis. This study shows\r\nthe timing of previously found
    drive-associated genes, and uncovers novel candidate genes and\r\nbiological processes
    that may underlie the complex biology of transmission ratio distortion of\r\nthe
    t-haplotype. Chapter 5 synthesizes the findings of the three studies, and discusses
    them in\r\nthe context of the current state of meiotic drive research."
alternative_title:
- ISTA Thesis
article_processing_charge: No
author:
- first_name: Réka K
  full_name: Kelemen, Réka K
  id: 48D3F8DE-F248-11E8-B48F-1D18A9856A87
  last_name: Kelemen
  orcid: 0000-0002-8489-9281
citation:
  ama: Kelemen RK. Characterizing the sequence and expression evolution of the t-haplotype,
    a model meiotic driver. 2024. doi:<a href="https://doi.org/10.15479/at:ista:17119">10.15479/at:ista:17119</a>
  apa: Kelemen, R. K. (2024). <i>Characterizing the sequence and expression evolution
    of the t-haplotype, a model meiotic driver</i>. Institute of Science and Technology
    Austria. <a href="https://doi.org/10.15479/at:ista:17119">https://doi.org/10.15479/at:ista:17119</a>
  chicago: Kelemen, Réka K. “Characterizing the Sequence and Expression Evolution
    of the T-Haplotype, a Model Meiotic Driver.” Institute of Science and Technology
    Austria, 2024. <a href="https://doi.org/10.15479/at:ista:17119">https://doi.org/10.15479/at:ista:17119</a>.
  ieee: R. K. Kelemen, “Characterizing the sequence and expression evolution of the
    t-haplotype, a model meiotic driver,” Institute of Science and Technology Austria,
    2024.
  ista: Kelemen RK. 2024. Characterizing the sequence and expression evolution of
    the t-haplotype, a model meiotic driver. Institute of Science and Technology Austria.
  mla: Kelemen, Réka K. <i>Characterizing the Sequence and Expression Evolution of
    the T-Haplotype, a Model Meiotic Driver</i>. Institute of Science and Technology
    Austria, 2024, doi:<a href="https://doi.org/10.15479/at:ista:17119">10.15479/at:ista:17119</a>.
  short: R.K. Kelemen, Characterizing the Sequence and Expression Evolution of the
    T-Haplotype, a Model Meiotic Driver, Institute of Science and Technology Austria,
    2024.
corr_author: '1'
date_created: 2024-06-07T16:14:13Z
date_published: 2024-06-20T00:00:00Z
date_updated: 2026-04-07T13:21:37Z
day: '20'
ddc:
- '576'
degree_awarded: PhD
department:
- _id: GradSch
- _id: BeVi
doi: 10.15479/at:ista:17119
ec_funded: 1
file:
- access_level: closed
  checksum: fab59146e3b3dc2e5d214576984a2a63
  content_type: application/zip
  creator: rkelemen
  date_created: 2024-06-07T16:09:17Z
  date_updated: 2025-01-10T23:30:10Z
  embargo_to: open_access
  file_id: '17121'
  file_name: thesis.zip
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  checksum: 91cc4c25a792239e8a7688e8aec7c62a
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  creator: rkelemen
  date_created: 2024-07-10T08:00:20Z
  date_updated: 2025-01-10T23:30:10Z
  embargo: 2025-01-10
  file_id: '17213'
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  file_size: 19405484
  relation: main_file
file_date_updated: 2025-01-10T23:30:10Z
has_accepted_license: '1'
keyword:
- meiotic driver
- neofunctionalization
- single nucleus sequencing
language:
- iso: eng
license: https://creativecommons.org/licenses/by-nc-sa/4.0/
month: '06'
oa: 1
oa_version: Published Version
page: '105'
project:
- _id: 250BDE62-B435-11E9-9278-68D0E5697425
  call_identifier: H2020
  grant_number: '715257'
  name: Prevalence and Influence of Sexual Antagonism on Genome Evolution
- _id: 34ae1506-11ca-11ed-8bc3-c14f4c474396
  grant_number: F8810
  name: The highjacking of meiosis for asexual reproduction
publication_identifier:
  isbn:
  - 978-3-99078-039-8
  issn:
  - 2663-337X
publication_status: published
publisher: Institute of Science and Technology Austria
related_material:
  record:
  - id: '542'
    relation: part_of_dissertation
    status: public
  - id: '10767'
    relation: part_of_dissertation
    status: public
status: public
supervisor:
- first_name: Beatriz
  full_name: Vicoso, Beatriz
  id: 49E1C5C6-F248-11E8-B48F-1D18A9856A87
  last_name: Vicoso
  orcid: 0000-0002-4579-8306
title: Characterizing the sequence and expression evolution of the t-haplotype, a
  model meiotic driver
tmp:
  image: /images/cc_by_nc_sa.png
  legal_code_url: https://creativecommons.org/licenses/by-nc-sa/4.0/legalcode
  name: Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International (CC
    BY-NC-SA 4.0)
  short: CC BY-NC-SA (4.0)
type: dissertation
user_id: ba8df636-2132-11f1-aed0-ed93e2281fdd
year: '2024'
...