RT Journal Article
T1 The mole genome reveals regulatory rearrangements associated with adaptive intersexuality.
A1 Real, Francisca M
A1 Haas, Stefan A
A1 Franchini, Paolo
A1 Xiong, Peiwen
A1 Simakov, Oleg
A1 Kuhl, Heiner
A1 Schöpflin, Robert
A1 Heller, David
A1 Moeinzadeh, M-Hossein
A1 Heinrich, Verena
A1 Krannich, Thomas
A1 Bressin, Annkatrin
A1 Hartmann, Michaela F
A1 Wudy, Stefan A
A1 Dechmann, Dina K N
A1 Hurtado, Alicia
A1 Barrionuevo, Francisco J
A1 Schindler, Magdalena
A1 Harabula, Izabela
A1 Osterwalder, Marco
A1 Hiller, Michael
A1 Wittler, Lars
A1 Visel, Axel
A1 Timmermann, Bernd
A1 Meyer, Axel
A1 Vingron, Martin
A1 Jiménez, Rafael
A1 Mundlos, Stefan
A1 Lupiañez, Darío G
K1 Adaptation, Physiological
K1 Animals
K1 Chromosome Inversion
K1 Datasets as Topic
K1 Female
K1 Fibroblast Growth Factor 9
AB 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.
PB American Association for the Advancement of Science (AAAS)
YR 2020
FD 2020-08-17
LK http://hdl.handle.net/10668/16384
UL http://hdl.handle.net/10668/16384
LA en
NO M Real F, Haas SA, Franchini P, Xiong P, Simakov O, Kuhl H, et al. The mole genome reveals regulatory rearrangements associated with adaptive intersexuality. Science. 2020 Oct 9;370(6513):208-214.
DS RISalud
RD Apr 8, 2025