thesis published Andrea Mrnjavac author 353FAC84-AE61-11E9-8BFC-00D3E5697425 Beatriz Vicoso supervisor GradSch department BeVi department Sex chromosomes and autosomes exhibit very different evolutionary dynamics. The Y chromosome usually degenerates, leaving many X-linked loci hemizygous in males. Since recessive X-linked mutations are always exposed to selection in males, selection is more efficient on the X chromosome than on autosomes on recessive mutations, leading to faster adaptation on the X chromosome than other genomic regions, if beneficial mutations are on average recessive (known as the Faster-X effect). In the presence of the functional, but non-recombining gametolog on the Y (as is often the case in young non-recombining regions), recessive mutations are sheltered from selection on the X chromosome. We model this scenario and show that the efficiency of selection is reduced on diploid X loci due to sheltering by the Y chromosome. Reduced efficiency of selection leads to slower adaptation and increased accumulation of deleterious mutations (Slower-X effect). We extended this model to explore the effect of sex-specific selection on degeneration of sex chromosomes, showing theoretically that male-limited genes degenerate on the X chromosome and female-biased genes degenerate on the Y chromosome. This prediction depends on the effective population size and the mutation rate, explaining the variety of sex chromosome degeneration patterns observed in nature. To test for direct evidence of a Slower-X (or Slower-Z) effect, we analyzed the ZW sex chromosomes of the flatworm Schistosoma japonicum, which have a very young non-recombining region with non-degenerated W. Diploid Z-linked genes have higher ratios of non-synonymous to synonymous polymorphisms than autosomal genes, supporting reduced efficiency of selection on the diploid Z region. These results provide evidence of sheltering by the W chromosome, a mechanism that could contribute to Z (X) chromosome degeneration, and illustrate contrasting evolutionary patterns in old and young sex chromosome regions. In addition, genes with sexspecific patterns of expression show opposite patterns of selection in the young (diploid) and old (hemizygous) Z, showing the complex manner in which sex-specific selection shapes the evolutionary patterns of sex chromosomes. https://research-explorer.ista.ac.at/download/18531/18551/AMrnjavac_thesis_library.docx application/vnd.openxmlformats-officedocument.wordprocessingml.document https://research-explorer.ista.ac.at/download/18531/18552/AMrnjavac_thesis_library.pdf application/pdf2025-05-11no https://creativecommons.org/licenses/by-nc-nd/4.0/ Institute of Science and Technology Austria2024 eng Sex chromosomesevolutionselectionsheltering 2663-337X10.15479/at:ista:18531 181 https://research-explorer.ista.ac.at/record/12521 https://research-explorer.ista.ac.at/record/18549 A. Mrnjavac, “Early stages of sex chromosome evolution,” Institute of Science and Technology Austria, 2024. Mrnjavac, A. (2024). <i>Early stages of sex chromosome evolution</i>. Institute of Science and Technology Austria. <a href="https://doi.org/10.15479/at:ista:18531">https://doi.org/10.15479/at:ista:18531</a> Mrnjavac A. Early stages of sex chromosome evolution. 2024. doi:<a href="https://doi.org/10.15479/at:ista:18531">10.15479/at:ista:18531</a> Mrnjavac, Andrea. <i>Early Stages of Sex Chromosome Evolution</i>. Institute of Science and Technology Austria, 2024, doi:<a href="https://doi.org/10.15479/at:ista:18531">10.15479/at:ista:18531</a>. Mrnjavac, Andrea. “Early Stages of Sex Chromosome Evolution.” Institute of Science and Technology Austria, 2024. <a href="https://doi.org/10.15479/at:ista:18531">https://doi.org/10.15479/at:ista:18531</a>. Mrnjavac A. 2024. Early stages of sex chromosome evolution. Institute of Science and Technology Austria. A. Mrnjavac, Early Stages of Sex Chromosome Evolution, Institute of Science and Technology Austria, 2024. 185312024-11-11T08:40:45Z2026-04-07T13:22:45Z