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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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Real_2020.pdf (Verlagsversion), 2MB
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© 2020 American Association for the Advancement of Science
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 Urheber:
Real, Francisca M.1, Autor                 
Haas, Stefan A.2, Autor           
Franchini, Paolo , Autor
Xiong, Peiwen , Autor
Simakov, Oleg , Autor
Kuhl, Heiner, Autor
Schöpflin, Robert3, Autor           
Heller, David, Autor           
Moeinzadeh, Mohammad Hossein2, Autor           
Heinrich, Verena4, Autor           
Krannich , Thomas4, Autor
Bressin, Annkatrin5, Autor           
Hartmann, Michaela F. , Autor
Wudy, Stefan A., Autor
Dechmann, Dina K. N. , Autor
Hurtado, Alicia , Autor
Barrionuevo, Francisco J. , Autor
Schindler, Magdalena3, Autor           
Harabula, Izabela 3, Autor
Osterwalder, Marco, Autor
Hiller, Michael, AutorWittler, Lars6, Autor           Visel, Axel, AutorTimmermann, Bernd7, Autor           Meyer, Axel, AutorVingron, Martin4, Autor                 Jiménez, Rafael , AutorMundlos, Stefan3, Autor                 Lupiáñez, Dario G.3, Autor mehr..
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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 Zusammenfassung: 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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Sprache(n): eng - English
 Datum: 2020-10-09
 Publikationsstatus: Erschienen
 Seiten: -
 Ort, Verlag, Ausgabe: -
 Inhaltsverzeichnis: -
 Art der Begutachtung: -
 Identifikatoren: DOI: 10.1126/science.aaz2582
 Art des Abschluß: -

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Titel: Science
  Andere : Science
Genre der Quelle: Zeitschrift
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Ort, Verlag, Ausgabe: Washington, D.C. : American Association for the Advancement of Science
Seiten: 7 Band / Heft: 370 (6513) Artikelnummer: - Start- / Endseite: 208 - 214 Identifikator: ISSN: 0036-8075
CoNE: https://pure.mpg.de/cone/journals/resource/991042748276600_1