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DNA binding activity studies and computational approach of mutant SRY in patients with 46, XY complete pure gonadal dysgenesis.

Abstract：

:Mutations of SRY are the cause of 46,XY complete pure gonadal dysgenesis (PGD) in 10-15% of patients. In this study, DNA was isolated and sequenced from blood leukocytes and from paraffin-embedded gonadal tissue in five patients with 46,XY complete PGD. DNA binding capability was analyzed by three different methods. The structure of the full length SRY and its mutant proteins was carried out using a protein molecular model. DNA analysis revealed two mutations and one synonymous polymorphism: in patient #4 a Y96C mutation, and a E156 polymorphism; in patient #5 a S143G mosaic mutation limited to gonadal tissue. We demonstrated, by all methods used, that both mutant proteins reduced SRY DNA binding activity. The three-dimensional structure of SRY suggested that besides the HMG box, the carboxy-terminal region of SRY interacts with DNA. In conclusion, we identified two SRY mutations and a polymorphism in two patients with 46,XY complete PGD, demonstrating the importance of the carboxy-terminal region of SRY in DNA binding activity.

journal_name

Mol Cell Endocrinol

journal_title

Molecular and cellular endocrinology

authors

Sánchez-Moreno I,Canto P,Munguía P,de León MB,Cisneros B,Vilchis F,Reyes E,Méndez JP

doi

10.1016/j.mce.2008.10.012

subject

Has Abstract

pub_date

2009-02-27 00:00:00

pages

212-8

issue

2

eissn

0303-7207

issn

1872-8057

pii

S0303-7207(08)00473-5

journal_volume

299

pub_type

杂志文章

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