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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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 Creators:
Real, Francisca M.1, Author                 
Haas, Stefan A.2, Author           
Franchini, Paolo , Author
Xiong, Peiwen , Author
Simakov, Oleg , Author
Kuhl, Heiner, Author
Schöpflin, Robert3, Author           
Heller, David, Author           
Moeinzadeh, Mohammad Hossein2, Author           
Heinrich, Verena4, Author           
Krannich , Thomas4, Author
Bressin, Annkatrin5, Author           
Hartmann, Michaela F. , Author
Wudy, Stefan A., Author
Dechmann, Dina K. N. , Author
Hurtado, Alicia , Author
Barrionuevo, Francisco J. , Author
Schindler, Magdalena3, Author           
Harabula, Izabela 3, Author
Osterwalder, Marco, Author
Hiller, Michael, AuthorWittler, Lars6, Author           Visel, Axel, AuthorTimmermann, Bernd7, Author           Meyer, Axel, AuthorVingron, Martin4, Author                 Jiménez, Rafael , AuthorMundlos, Stefan3, Author                 Lupiáñez, Dario G.3, Author more..
Affiliations:
1Gene Regulation and Evolution (Francisca Martinez Real), Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_3430951              
2Dept. of Computational Molecular Biology (Head: Martin Vingron), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433547              
3Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433557              
4Transcriptional Regulation (Martin Vingron), Dept. of Computational Molecular Biology (Head: Martin Vingron), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479639              
5Nascent Transcription and Cell Differentiation (Andreas Mayer), Independent Junior Research Groups (OWL), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_2385699              
6Dept. of Developmental Genetics (Head: Bernhard G. Herrmann), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433548              
7Sequencing (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: Issued
 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