Journal article

The mole genome reveals regulatory rearrangements associated with adaptive intersexuality


Authors listReal, Francisca M.; Haas, Stefan A.; Franchini, Paolo; Xiong, Peiwen; Simakov, Oleg; Kuhl, Heiner; Schopflin, 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; Hiller, Michael; Wittler, Lars; Visel, Axel; Timmermann, Bernd; Meyer, Axel; Vingron, Martin; Jimenez, Rafael; Mundlos, Stefan; Lupianez, Dario G.

Publication year2020

Pages208-20+

JournalScience

Volume number370

Issue number6513

ISSN0036-8075

eISSN1095-9203

Open access statusGreen

DOI Linkhttps://doi.org/10.1126/science.aaz2582

PublisherAmerican Association for the Advancement of Science


Abstract
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.



Citation Styles

Harvard Citation styleReal, F., Haas, S., Franchini, P., Xiong, P., Simakov, O., Kuhl, H., et al. (2020) The mole genome reveals regulatory rearrangements associated with adaptive intersexuality, Science, 370(6513), pp. 208-20+. https://doi.org/10.1126/science.aaz2582

APA Citation styleReal, F., Haas, S., Franchini, P., Xiong, P., Simakov, O., Kuhl, H., Schopflin, R., Heller, D., Moeinzadeh, M., Heinrich, V., Krannich, T., Bressin, A., Hartmann, M., Wudy, S., Dechmann, D., Hurtado, A., Barrionuevo, F., Schindler, M., Harabula, I., ...Lupianez, D. (2020). The mole genome reveals regulatory rearrangements associated with adaptive intersexuality. Science. 370(6513), 208-20+. https://doi.org/10.1126/science.aaz2582



Keywords


DE-NOVO IDENTIFICATIONDNA-CONTENTSEQ DATATALPA-OCCIDENTALISTRANSFER-RNA GENES

Last updated on 2025-10-06 at 11:17