Insights into sry action from sex reversal mutations

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

doi:10.1142/9789812770431_0003

Insights into sry action from sex reversal mutations

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

Research output: Chapter in Book/Report/Conference proceeding › Chapter (Book) › Research › peer-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 language	English
Title of host publication	The Y Chromosome and Male Germ Cell Biology in Health and Diseases
Place of Publication	Singapore
Publisher	World Scientific Publishing
Chapter	3
Pages	47-72
Number of pages	26
ISBN (Electronic)	9789812770431
ISBN (Print)	9812703748, 9789812703743
DOIs	https://doi.org/10.1142/9789812770431_0003
Publication status	Published - 1 Jan 2007
Externally published	Yes

Keywords

Gonadal dysgenesis
HMG box
KRAB-O
Sex reversal
SRY

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10.1142/9789812770431_0003

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title = "Insights into sry action from sex reversal mutations",

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.",

keywords = "Gonadal dysgenesis, HMG box, KRAB-O, Sex reversal, SRY",

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T1 - Insights into sry action from sex reversal mutations

AU - Stahle, Melissa I.

AU - Bernard, Pascal

AU - Harley, Vincent R.

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N2 - 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.

AB - 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.

KW - Gonadal dysgenesis

KW - HMG box

KW - KRAB-O

KW - Sex reversal

KW - SRY

UR - https://www.scopus.com/pages/publications/84967425400

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DO - 10.1142/9789812770431_0003

M3 - Chapter (Book)

AN - SCOPUS:84967425400

SN - 9812703748

SN - 9789812703743

SP - 47

EP - 72

BT - The Y Chromosome and Male Germ Cell Biology in Health and Diseases

PB - World Scientific Publishing

CY - Singapore

ER -

Insights into sry action from sex reversal mutations

Abstract

Keywords

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