Identifying genes for male sex determination in humans

Research output: Contribution to journalArticle

3 Citations (Scopus)

Abstract

The convergence of genetic and molecular technologies has led to the identification of a number of genes for male sex determination. The observation of chromosomal translocations, deletions, and duplications in sex reversed individuals was instrumental for the positional cloning of SRY, SOX9, WT1, and DAX1. Cloning by protein-DNA interaction was required for the identification of SF1. The observation of an extended phenotype for the alpha thalassemia-mental retardation syndrome assigned a role for XH2 in the testicular determining process. Over the next several years, new sex determining genes will be identified by linkage analysis in large families with multiple sex reversed members, comparative genomic hybridization of sex reversed individuals, and database searches for genes that encode interacting proteins or paralogs of other species. Given the apparent differences in the sex determining mechanisms of even closely related species, the roles of all of these genes will require confirmation by demonstrating expression in human gonadal ridge at the critical time, and that mutations result in sex reversal.

Original languageEnglish (US)
Pages (from-to)567-573
Number of pages7
JournalJournal of Experimental Zoology
Volume290
Issue number6
DOIs
StatePublished - Nov 1 2001
Externally publishedYes

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gender
genes
molecular cloning
thalassemia
comparative genomic hybridization
sex reversal
gender differences
linkage (genetics)
proteins
mutation
phenotype
DNA
genetic databases

ASJC Scopus subject areas

  • Animal Science and Zoology

Cite this

Identifying genes for male sex determination in humans. / Ostrer, Harry.

In: Journal of Experimental Zoology, Vol. 290, No. 6, 01.11.2001, p. 567-573.

Research output: Contribution to journalArticle

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