Journalartikel
Autorenliste: Real, 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.
Jahr der Veröffentlichung: 2020
Seiten: 208-20+
Zeitschrift: Science
Bandnummer: 370
Heftnummer: 6513
ISSN: 0036-8075
eISSN: 1095-9203
Open Access Status: Green
DOI Link: https://doi.org/10.1126/science.aaz2582
Verlag: American 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.
Zitierstile
Harvard-Zitierstil: Real, 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-Zitierstil: Real, 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
Schlagwörter
DE-NOVO IDENTIFICATION; DNA-CONTENT; SEQ DATA; TALPA-OCCIDENTALIS; TRANSFER-RNA GENES
