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.
Highlights
Sexual development in mammals depends on a complex network of regulatory genes controlled by the presence or absence of the testis-determining gene SRY [1]
We proceeded to explore the genetic basis of this defect by investigating ten genes [sex-determining region Y gene (SRY), SRY-related HMG-box gene 3 (SOX3), SRYrelated HMG box gene 9 (SOX9), SRY-related HMG box gene 10 (SOX10), R-spondin 1 (RSPO1), forkhead transcription factor FOXL2 (FOXL2), double-sex- and MAB3-related transcription factor 1 (DMRT1), fibroblast growth factor 9 (FGF9), Wilms tumor gene 1 (WT1), androgen receptor (AR)] which are all known, in humans and mice, to be involved in sex determination or SRY-negative XX sex reversal, if mutated [3]
We identified 42 sequence variations in SOX3, SOX9, SOX10, RSPO1, FOXL2, DMRT1, FGF9, WT1 and AR (Table 1) but none in SRY
Summary
Sexual development in mammals depends on a complex network of regulatory genes controlled by the presence or absence of the testis-determining gene SRY (sex-determining region on the Y chromosome) [1]. In the absence of SRY, the alternative, female pathway is activated, resulting in ovary formation [2]. Derangements in these processes cause malformations of internal and external genitalia, varying from sexual ambiguity to complete sex reversal. Sex reversal is a rare disorder of sterile XX males or XY females, with an incidence of one in 20,000-25,000 males [4]. XX sex reversals occur in different mammals, including European roe deer (Capreolus capreolus) [5]. In order to explore the genetic basis of this defect, we sequenced the genome of roe deer
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