SOX9 Duplication Linked to Intersex in Deer
نویسندگان
چکیده
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.
منابع مشابه
Autosomal XX sex reversal caused by duplication of SOX9.
SOX9 is one of the genes that play critical roles in male sexual differentiation. Mutations of SOX9 leading to haploinsufficiency can cause campomelic dysplasia and XY sex reversal. We report here evidence supporting that SOX9 duplication can cause XX sex reversal. A newborn infant was referred for genetic evaluation because of abnormal male external genitalia. The infant had severe penile/scro...
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Steroidogenic factor 1 (SF-1) is an essential factor in endocrine proliferation and gene expression. Despite the fact that SF-1 expression is restricted to specialized cells within the endocrine system, the only identified regulatory factors of SF-1 are the ubiquitously expressed E-box proteins (upstream stimulatory factors 1 and 2). Sequence examination of the SF-1 proximal promoter revealed a...
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In order to have a good perspective of wild animals, it is necessary to determine their population and genetic structure. It provides an opportunity to decide on better conservation managements. In the wilderness, due to the escapable nature and sometimes not having the distinguishable bisexual appearance, sex identification could be difficult by observing animals. The X- and Y- chromosome link...
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Male development in mammals is normally initiated by the Y-linked gene Sry, which activates expression of Sox9, leading to a cascade of gene activity required for testis formation. Although defects in this genetic cascade lead to human disorders of sex development (DSD), only a dozen DSD genes have been identified, and causes of 46,XX DSD (XX maleness) other than SRY translocation are almost co...
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عنوان ژورنال:
دوره 8 شماره
صفحات -
تاریخ انتشار 2013