Mutations in MAP3K1 cause 46,XY disorders of sex development and implicate a common signal transduction pathway in human testis determination.

doi:10.1016/j.ajhg.2010.11.003

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Article

Mutations in MAP3K1 cause 46,XY disorders of sex development and implicate a common signal transduction pathway in human testis determination.

American journal of human genetics - 10 Dec 2010

Pearlman Alexander, Loke Johnny, Le Caignec Cedric, White Stefan, Chin Lisa, Friedman Andrew, Warr Nicholas, Willan John, Brauer David, Farmer Charles, Brooks Eric, Oddoux Carole, Riley Bridget, Shajahan Shahin, Camerino Giovanna, Homfray Tessa, Crosby Andrew H, Couper Jenny, David Albert, Greenfield Andy, Sinclair Andrew, Ostrer Harry

Abstract excerpt

Investigations of humans with disorders of sex development (DSDs) resulted in the discovery of many of the now-known mammalian sex-determining genes, including SRY, RSPO1, SOX9, NR5A1, WT1, NR0B1, and WNT4. Here, the locus for an autosomal sex-determining gene was mapped via linkage analysis in two families with 46,XY DSD to the long arm of chromosome 5 with a combined, multipoint parametric LOD score of 6.21. A...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 21129722
DOI: 10.1016/j.ajhg.2010.11.003
PMCID: PMC2997363

Genes

RHOA
RSPO1
SOX9
SRY
WNT4

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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