SOX9 Duplication Linked to Intersex in Deer

被引：19

作者：

Kropatsch, Regina ^{[1
]}

Dekomien, Gabriele ^{[1
]}

Akkad, Denis A. ^{[1
]}

Gerding, Wanda M. ^{[1
]}

Petrasch-Parwez, Elisabeth ^{[1
]}

Young, Neil D. ^{[2
]}

Altmueller, Janine ^{[3
]}

Nuernberg, Peter ^{[3
]}

Gasser, Robin B. ^{[2
]}

Epplen, Joerg T. ^{[1
]}

机构：

[1] Ruhr Univ Bochum, Bochum, Germany

[2] Univ Melbourne, Fac Vet Sci, Parkville, Vic 3052, Australia

[3] Univ Cologne, Cologne Ctr Genom, D-50931 Cologne, Germany

来源：

PLOS ONE | 2013年 / 8卷 / 09期

基金：

澳大利亚研究理事会; 英国医学研究理事会;

关键词：

XX SEX-REVERSAL; TESTIS DIFFERENTIATION; CAMPOMELIC DYSPLASIA; PCR AMPLIFICATION; SRY; GENE; EXPRESSION; MOUSE; UPSTREAM; MAMMALS;

D O I：

10.1371/journal.pone.0073734

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

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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