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The mole genome reveals regulatory rearrangements associated with adaptive intersexuality

Item Type:Article
Title:The mole genome reveals regulatory rearrangements associated with adaptive intersexuality
Creators Name:Real, F.M. and Haas, S.A. and Franchini, P. and Xiong, P. and Simakov, O. and Kuhl, H. and Schöpflin, R. and Heller, D. and Moeinzadeh, M.H. and Heinrich, V. and Krannich, T. and Bressin, A. and Hartmann, M.F. and Wudy, S.A. and Dechmann, D.K.N. and Hurtado, A. and Barrionuevo, F.J. and Schindler, M. and Harabula, I. and Osterwalder, M. and Hiller, M. and Wittler, L. and Visel, A. and Timmermann, B. and Meyer, A. and Vingron, M. and Jiménez, R. and 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
Official Publication:https://doi.org/10.1126/science.aaz2582
PubMed:View item in PubMed

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