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SOX9 Duplication Linked to Intersex in Deer
Author(s) -
Regina Kropatsch,
Gabriele Dekomien,
Denis A. Akkad,
Wanda M. Gerding,
Elisabeth PetraschParwez,
Neil D. Young,
Janine Altmüller,
Peter Nürnberg,
Robin B. Gasser,
Jörg T. Epplen
Publication year - 2013
Publication title -
plos one
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.99
H-Index - 332
ISSN - 1932-6203
DOI - 10.1371/journal.pone.0073734
Subject(s) - biology , testis determining factor , sox9 , genetics , gene duplication , gene , genotype , phenotype , disorders of sex development , genome , roe deer , evolutionary biology , y chromosome , zoology , gene expression
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 SOX9 gene, allowing insights into a new genetic defect in a wild animal.

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