Identification of a novel mutation (Ala66Thr) of SRY gene causes XY pure gonadal dysgenesis by affecting DNA binding activity and nuclear import.
Sign Up to like & getrecommendations! Published in 2018 at "Gene"
DOI: 10.1016/j.gene.2018.01.076
Abstract: Sex-determining region of the Y chromosome (SRY) gene plays a crucial role in male sexual differentiation and development. Several mutations in the SRY gene have been reported in the high mobility group (HMG) box domain… read more here.
Keywords: gonadal dysgenesis; sry; sry gene; gene ... See more keywords
Characterisation of eight cattle with Swyer syndrome by whole-genome sequencing.
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DOI: 10.1111/age.13280
Abstract: Swyer syndrome is where an individual has the karyotype of a typical male yet is phenotypically a female. The lack of a (functional) SRY gene located on the Y-chromosome is implicated in some cases of… read more here.
Keywords: sry gene; swyer syndrome; cases swyer; whole genome ... See more keywords
Applying real-time quantitative PCR to diagnosis of freemartin in Holstein cattle by quantifying SRY gene: a comparison experiment
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DOI: 10.7717/peerj.4616
Abstract: Background Freemartinism generally occurs in female offspring of dizygotic twins in a mixed-sex pregnancy. Most bovine heterosexual twin females are freemartins. However, about 10% of bovine heterosexual twin females are fertile. Farmers mostly cull bovine… read more here.
Keywords: sry gene; heterosexual twin; freemartin; twin ... See more keywords