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

Text A novel SRY gene mutation(andrologia).pdf Restricted to Registered users only Download (682Kb)

Abstract

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:	Central Library RGCB
Date Deposited:	18 Feb 2020 06:22
Last Modified:	18 Feb 2020 06:22
URI:	http://rgcb.sciencecentral.in/id/eprint/947

Actions (login required)

View Item