The mole genome reveals regulatory rearrangements associated with adaptive intersexuality.

M Real, Francisca; Haas, Stefan A; Franchini, Paolo; Xiong, Peiwen; Simakov, Oleg; Kuhl, Heiner; Schöpflin, Robert; Heller, David; Moeinzadeh, M-Hossein; Heinrich, Verena; Krannich, Thomas; Bressin, Annkatrin; Hartmann, Michaela F; Wudy, Stefan A; Dechmann, Dina K N; Hurtado, Alicia; Barrionuevo, Francisco J; Schindler, Magdalena; Harabula, Izabela; Osterwalder, Marco; ... (2020). The mole genome reveals regulatory rearrangements associated with adaptive intersexuality. Science, 370(6513), pp. 208-214. American Association for the Advancement of Science 10.1126/science.aaz2582

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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.

Item Type:

Journal Article (Original Article)


04 Faculty of Medicine > Pre-clinic Human Medicine > BioMedical Research (DBMR)

UniBE Contributor:

Osterwalder, Marco


600 Technology > 610 Medicine & health




American Association for the Advancement of Science




Marla Rittiner

Date Deposited:

29 Dec 2020 09:21

Last Modified:

29 Dec 2020 09:21

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