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Suresh Kumar, Raveendran and Aneesh , Kumar Asokan (2019) A novel SRY gene mutation c.266 A>T (p.E89V) in a 46,XY complete gonadal dysgenesis patient. Andrologia, 51 (9). ISSN 1439-0272

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The SRY gene is considered as the key player in the male sexual differentiation and developmental pathway. SRY gene mutations account for ~15% of 46,XY disorders of sexual development patients, and majority of them resides within the HMG domain of the protein. In this study, we report a novel missense mutation within the HMG domain of SRY gene, and an A-to-T transition causes E89V amino acid substitution in a 15-year-old female patient with 46,XY karyotype and complete gonadal dysgenesis. Moreover, three-dimensional analysis of protein-DNA complex showed that the replacement of highly hydrophilic glutamic acid residue with a hydrophobic residue like valine would have an impact on the structure of protein. In conclusion, we identified a novel SRY mutation in a 46,XY female patient with complete gonadal dysgenesis, and based on the protein modelling, we propose that the identified mutation could impair normal function of the SRY protein.

Item Type: Article
Uncontrolled Keywords: HMG domain; SRY; gonadal dysgenesis
Subjects: Cardiovascular Diseases And Diabetes Biology
Depositing User: Rgcb Library
Date Deposited: 18 Feb 2020 06:22
Last Modified: 18 Feb 2020 06:22
URI: http://rgcb.sciencecentral.in/id/eprint/947

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