\(\it SOX9\) duplication linked to intersex in deer

  • A complex network of genes determines sex in mammals. Here, we studied a European roe deer with an intersex phenotype that was consistent with a XY genotype with incomplete male-determination. Whole genome sequencing and quantitative real-time PCR analyses revealed a triple dose of the \(\it SOX9\) gene, allowing insights into a new genetic defect in a wild animal.

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Author:Regina KropatschGND, Gabriele DekomienGND, Denis A. AkkadGND, Wanda Maria GerdingORCiDGND, Elisabeth Petrasch-ParwezGND, Neil D. YoungGND, Janine AltmüllerGND, Peter NürnbergGND, Robin B. GasserGND, Jörg T. EpplenORCiDGND
URN:urn:nbn:de:hbz:294-72458
DOI:https://doi.org/10.1371/journal.pone.0073734
Parent Title (English):PLoS ONE
Publisher:Public Library of Science
Place of publication:San Francisco
Document Type:Article
Language:English
Date of Publication (online):2020/06/19
Date of first Publication:2013/09/06
Publishing Institution:Ruhr-Universität Bochum, Universitätsbibliothek
Tag:Deer; Genomic databases; Genomic libraries; Mammals; Polymerase chain reaction; Sequence analysis; Sequence assembly tools; Sequence databases
Volume:8
Issue:9, Artikel e73734
First Page:e73734-1
Last Page:e73734-6
Institutes/Facilities:Medizinische Fakultät, Abteilung für Humangenetik
open_access (DINI-Set):open_access
Licence (English):License LogoCreative Commons - CC BY 4.0 - Attribution 4.0 International

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