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Title:
The evolution of gene regulatory programs controlling gonadal development in primates | bioRxiv
Description:
Sex-determining pathways produce dimorphic gonads (ovaries and testes), yet the gene regulatory programs governing gonadogenesis and their evolution in primates remain little explored. Here we report evolutionary analyses of transcriptome and chromatin accessibility data of male and female human, marmoset (New World monkey), and mouse gonadal cells spanning key prenatal stages. We find that the two primates and mouse share similar X chromosome expression dynamics, including X chromosome reactivation (XCR), and that in Klinefelter syndrome (XXY) testes, germ cells undergo female-like XCR and escape of X inactivation. New male-specific regulatory regions have emerged progressively during mammalian evolution, especially on the X following sex chromosome origination. Further analyses revealed that male-specific regulatory regions evolved faster than female-specific ones in both supporting and pre-meiotic germ cells. However, female meiotic germ cells show even higher rates of molecular evolution and exhibit a permissive chromatin state that facilitates the birth of new genes, thus resembling their adult spermatogenic counterparts. Finally, we traced both conserved and species-specific gene expression trajectories across the three mammals, uncovering candidate genes for disorders of sex development that are typically central to cell-type-specific regulatory networks. Together, our study unveils both ancestral mammalian and recently evolved gene regulatory programs that control human- and primate-specific aspects of gonadal development in both sexes. ### Competing Interest Statement The authors have declared no competing interest. European Research Council, https://ror.org/0472cxd90, 615253, OntoTransEvol Deutsche Forschungsgemeinschaft, https://ror.org/018mejw64, SFB 873, INST 35/1503-1 FUGG, INST 35/1597-1 FUGG Klaus Tschira Foundation, https://ror.org/052jep661 Joint MRC/Wellcome, MR/R006237/1
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Keywords {🔍}
view, orcid, profile, biology, regulatory, evolution, gene, cells, medrxiv, subject, reviews, clinical, preprint, programs, gonadal, development, primates, evolutionary, chromosome, germ, biorxiv, university, trials, epidemiology, search, results, pdf, testes, report, analyses, chromatin, female, human, mouse, find, share, expression, xcr, malespecific, regions, mammalian, sex, evolved, molecular, genes, competing, interest, authors, declared, information,
Topics {✒️}
cell-type-specific regulatory networks epidemiology subject categories org/052jep661 joint mrc/wellcome report evolutionary analyses clinical trials mouse share similar male-specific regulatory regions pre-meiotic germ cells chromatin accessibility data molecular evolution biorxiv subject category genetics microbiology author/funder reviews epidemiology papers health-related information sex chromosome origination primate-specific aspects keyword advanced search chromosome expression dynamics permissive chromatin state adult spermatogenic counterparts sex development ontotransevol deutsche forschungsgemeinschaft generous financial support chan zuckerberg initiative imperial college london vrije universiteit amsterdam articles animal behavior mr/r006237/1 copyright gonadal development uncovering candidate genes competing interest statement context female-specific inst 35/1503-1 fugg female human primates remain competing interest chromosome reactivation analyses revealed copyright holder report results org/0472cxd90 org/018mejw64 results follow eva wolff charis drummer world monkey
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