Insights into sry action from sex reversal mutations

Melissa I. Stahle, Pascal Bernard, Vincent R. Harley

Research output: Chapter in Book/Report/Conference proceedingChapter (Book)Researchpeer-review

Abstract

In mammals, sex determination is a process triggered by the expression of SRY, the Y-chromosome-encoded testis-determining gene. The SRY protein has a highly conserved DNA-binding domain, the HMG box containing two nuclear localization signals. Mutations in SRY account for 10%-15% cases of 46,XY female sex reversal with gonadal dysgenesis. Nearly all reported SRY clinical mutations are localized within the HMG box, and a few occur outside. These have shed insight into essential functions of the SRYprotein for mammalian sex determination. This review focuses on SRY mutations and their consequences in sex determination.

Original languageEnglish
Title of host publicationThe Y Chromosome and Male Germ Cell Biology in Health and Diseases
Place of PublicationSingapore
PublisherWorld Scientific Publishing
Chapter3
Pages47-72
Number of pages26
ISBN (Electronic)9789812770431
ISBN (Print)9812703748, 9789812703743
DOIs
Publication statusPublished - 1 Jan 2007
Externally publishedYes

Keywords

  • Gonadal dysgenesis
  • HMG box
  • KRAB-O
  • Sex reversal
  • SRY

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