The mole genome reveals regulatory rearrangements associated with adaptive intersexuality

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Item Type:	Article
Title:	The mole genome reveals regulatory rearrangements associated with adaptive intersexuality
Creators Name:	Real, F.M., Haas, S.A., Franchini, P., Xiong, P., Simakov, O., Kuhl, H., Schöpflin, R., Heller, D., Moeinzadeh, M.H., Heinrich, V., Krannich, T., Bressin, A., Hartmann, M.F., Wudy, S.A., Dechmann, D.K.N., Hurtado, A., Barrionuevo, F.J., Schindler, M., Harabula, I., Osterwalder, M., Hiller, M., Wittler, L., Visel, A., Timmermann, B., Meyer, A., Vingron, M., Jiménez, R., Mundlos, S. and Lupiáñez, D.G.
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.
Keywords:	Chromosome Inversion, Datasets as Topic, Fibroblast Growth Factor 9, Gene Expression Regulation, Genome, Physiological Adaptation, Sex Differentiation, Steroid 17-alpha-Hydroxylase, Tandem Repeat Sequences, Testosterone, Transcriptional Regulatory Elements, Transgenic Mice, Animals, Mice, Moles
Source:	Science
ISSN:	0036-8075
Publisher:	American Association for the Advancement of Science
Volume:	370
Number:	6513
Page Range:	208-214
Date:	9 October 2020
Additional Information:	Copyright © 2020 The Authors, some rights reserved; exclusive licensee American Association for the Advancement of Science. No claim to original U.S. Government Works.
Official Publication:	https://doi.org/10.1126/science.aaz2582
External Fulltext:	View full text on PubMed Central
PubMed:	View item in PubMed

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