title: SOX9 duplication linked to intersex in deer.
abstract: 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.
authors.affiliation: Human Genetics, Ruhr University, Bochum, Germany.
authors.forename: Regina
authors.initials: R
authors.lastname: Kropatsch
authors.forename: Gabriele
authors.initials: G
authors.lastname: Dekomien
authors.forename: Denis A
authors.initials: DA
authors.lastname: Akkad
authors.forename: Wanda M
authors.initials: WM
authors.lastname: Gerding
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Petrasch-Parwez
authors.forename: Neil D
authors.initials: ND
authors.lastname: Young
authors.forename: Janine
authors.initials: J
authors.lastname: Altmüller
authors.forename: Peter
authors.initials: P
authors.lastname: Nürnberg
authors.forename: Robin B
authors.initials: RB
authors.lastname: Gasser
authors.forename: Jörg T
authors.initials: JT
authors.lastname: Epplen
mesh_terms: D000818:Animals; D056915:DNA Copy Number Variations; D003670:Deer / Q000235:genetics*; D012734:Disorders of Sex Development / Q000235:genetics*; D005260:Female; D020440:Gene Duplication; D014644:Genetic Variation; D005838:Genotype; D008297:Male; D008969:Molecular Sequence Data; D010641:Phenotype; D016133:Polymerase Chain Reaction; D055758:SOX9 Transcription Factor / Q000235:genetics*; D017422:Sequence Analysis, DNA / Q000379:methods
chemical_list: D055758:SOX9 Transcription Factor
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