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  The mole genome reveals regulatory rearrangements associated with adaptive intersexuality

Real, F. M., Haas, S. A., Franchini, P., Xiong, P., Simakov, O., Kuhl, H., et al. (2020). The mole genome reveals regulatory rearrangements associated with adaptive intersexuality. Science, 370(6513), 208-214. doi:10.1126/science.aaz2582.

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Item Permalink: http://hdl.handle.net/21.11116/0000-0007-51DB-7 Version Permalink: http://hdl.handle.net/21.11116/0000-0007-51DC-6
Genre: Journal Article

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© 2020 American Association for the Advancement of Science
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 Creators:
Real, Francisca M. 1, Author
Haas, Stefan A.2, Author              
Franchini, Paolo , Author
Xiong, Peiwen , Author
Simakov, Oleg , Author
Kuhl, Heiner, Author
Schöpflin, Robert1, Author              
Heller, David3, Author              
Moeinzadeh, Mohammad Hossein2, Author              
Heinrich, Verena3, Author              
Krannich , Thomas3, Author
Bressin, Annkatrin4, Author              
Hartmann, Michaela F. , Author
Wudy, Stefan A., Author
Dechmann, Dina K. N. , Author
Hurtado, Alicia , Author
Barrionuevo, Francisco J. , Author
Schindler, Magdalena1, Author              
Harabula, Izabela 1, Author
Osterwalder, Marco, Author
Hiller, Michael, AuthorWittler, Lars5, Author              Visel, Axel, AuthorTimmermann, Bernd6, Author              Meyer, Axel, AuthorVingron, Martin3, Author              Jiménez, Rafael , AuthorMundlos, Stefan1, Author              Lupiáñez, Dario G.1, Author more..
Affiliations:
1Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433557              
2Dept. of Computational Molecular Biology (Head: Martin Vingron), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433547              
3Gene regulation (Martin Vingron), Dept. of Computational Molecular Biology (Head: Martin Vingron), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479639              
4Nascent Transcription and Cell Differentiation (Andreas Mayer), Independent Junior Research Groups (OWL), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_2385699              
5Dept. of Developmental Genetics (Head: Bernhard G. Herrmann), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433548              
6Sequencing (Head: Bernd Timmermann), Scientific Service (Head: Christoph Krukenkamp), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479670              

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 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.

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Language(s): eng - English
 Dates: 2020-10-09
 Publication Status: Published in print
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Type: -
 Identifiers: DOI: 10.1126/science.aaz2582
 Degree: -

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Title: Science
  Other : Science
Source Genre: Journal
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Publ. Info: Washington, D.C. : American Association for the Advancement of Science
Pages: 7 Volume / Issue: 370 (6513) Sequence Number: - Start / End Page: 208 - 214 Identifier: ISSN: 0036-8075
CoNE: https://pure.mpg.de/cone/journals/resource/991042748276600_1