Human sex reversal loci

R Sreenivasan; V Harley

doi:10.1016/B978-0-12-374984-0.01408-X

Human sex reversal loci

R Sreenivasan, V Harley

Research output: Chapter in Book/Report/Conference proceeding › Encyclopaedia / Dictionary Entry › Other › peer-review

1 Citation (Scopus)

Abstract

Human sex reversal is a condition where the genetic sex of patients is inconsistent with their phenotypic sex. It is classified as a disorder of sex development (DSD) and can occur when the complex molecular pathways that control sex determination and gonad differentiation are disrupted. Genome analyses of DSD patients have led to the recent identification of a number of loci and, together with gain-of-function and loss-of-function studies in mouse models, have defined their roles in the control of gonadal development. This article summarizes the genetic loci that have been linked to DSDs where sex reversal of varying degrees has been observed.

Original language	English
Title of host publication	Brenner’s Encyclopedia of Genetics
Subtitle of host publication	Second Edition
Editors	Stanley Maloy, Kelly Hughes
Place of Publication	London UK
Publisher	Elsevier
Pages	561-564
Number of pages	4
Volume	3
Edition	2nd
ISBN (Electronic)	9780080961569
ISBN (Print)	9780123749840
DOIs	https://doi.org/10.1016/B978-0-12-374984-0.01408-X
Publication status	Published - 27 Feb 2013
Externally published	Yes

Keywords

Ambiguous genitalia
Disorder of sex development
Gonadal dysgenesis
Sex reversal

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10.1016/B978-0-12-374984-0.01408-X

Cite this

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abstract = "Human sex reversal is a condition where the genetic sex of patients is inconsistent with their phenotypic sex. It is classified as a disorder of sex development (DSD) and can occur when the complex molecular pathways that control sex determination and gonad differentiation are disrupted. Genome analyses of DSD patients have led to the recent identification of a number of loci and, together with gain-of-function and loss-of-function studies in mouse models, have defined their roles in the control of gonadal development. This article summarizes the genetic loci that have been linked to DSDs where sex reversal of varying degrees has been observed.",

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AU - Harley, V

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N2 - Human sex reversal is a condition where the genetic sex of patients is inconsistent with their phenotypic sex. It is classified as a disorder of sex development (DSD) and can occur when the complex molecular pathways that control sex determination and gonad differentiation are disrupted. Genome analyses of DSD patients have led to the recent identification of a number of loci and, together with gain-of-function and loss-of-function studies in mouse models, have defined their roles in the control of gonadal development. This article summarizes the genetic loci that have been linked to DSDs where sex reversal of varying degrees has been observed.

AB - Human sex reversal is a condition where the genetic sex of patients is inconsistent with their phenotypic sex. It is classified as a disorder of sex development (DSD) and can occur when the complex molecular pathways that control sex determination and gonad differentiation are disrupted. Genome analyses of DSD patients have led to the recent identification of a number of loci and, together with gain-of-function and loss-of-function studies in mouse models, have defined their roles in the control of gonadal development. This article summarizes the genetic loci that have been linked to DSDs where sex reversal of varying degrees has been observed.

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KW - Disorder of sex development

KW - Gonadal dysgenesis

KW - Sex reversal

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DO - 10.1016/B978-0-12-374984-0.01408-X

M3 - Encyclopaedia / Dictionary Entry

AN - SCOPUS:85043245991

SN - 9780123749840

VL - 3

SP - 561

EP - 564

BT - Brenner’s Encyclopedia of Genetics

A2 - Maloy, Stanley

A2 - Hughes, Kelly

PB - Elsevier

CY - London UK

ER -

Human sex reversal loci

Abstract

Keywords

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