The mole genome reveals regulatory rearrangements associated with adaptive intersexuality
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Linking genomic variation to phenotypical traits remains a major challenge in evolutionary genetics. In this study, we use phylogenomic strategies to investigate a distinctive trait among mammals: the development of masculinizing ovotestes in female moles. By combining a chromosome-scale genome assembly of the Iberian mole, Talpa occidentalis, with transcriptomic, epigenetic, and chromatin interaction datasets, we identify rearrangements altering the regulatory landscape of genes with distinct gonadal expression patterns. These include a tandem triplication involving CYP17A1, a gene controlling androgen synthesis, and an intrachromosomal inversion involving the pro-testicular growth factor gene FGF9, which is heterochronically expressed in mole ovotestes. Transgenic mice with a knock-in mole CYP17A1 enhancer or overexpressing FGF9 showed phenotypes recapitulating mole sexual features. Our results highlight how integrative genomic approaches can reveal the phenotypic impact of noncoding sequence changes.
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M. REAL, Francisca, Stefan A. HAAS, Paolo FRANCHINI, Peiwen XIONG, Oleg SIMAKOV, Heiner KUHL, Dina K. N. DECHMANN, Axel MEYER, Stefan MUNDLOS, Darío G. LUPIÁÑEZ, 2020. The mole genome reveals regulatory rearrangements associated with adaptive intersexuality. In: Science. American Association for the Advancement of Science (AAAS). 2020, 370(6513), pp. 208-214. ISSN 0036-8075. eISSN 1095-9203. Available under: doi: 10.1126/science.aaz2582BibTex
@article{MReal2020genom-51414, year={2020}, doi={10.1126/science.aaz2582}, title={The mole genome reveals regulatory rearrangements associated with adaptive intersexuality}, number={6513}, volume={370}, issn={0036-8075}, journal={Science}, pages={208--214}, author={M. Real, Francisca and Haas, Stefan A. and Franchini, Paolo and Xiong, Peiwen and Simakov, Oleg and Kuhl, Heiner and Dechmann, Dina K. N. and Meyer, Axel and Mundlos, Stefan and Lupiáñez, Darío G.} }
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