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Article

XY sex reversal associated with a deletion 5' to the SRY "HMG box" in the testis-determining region.

Proceedings of the National Academy of Sciences of the United States of America - 15 Nov 1992

McElreavy K, Vilain E, Abbas N, Costa J M, Souleyreau N, Kucheria K, Boucekkine C, Thibaud E, Brauner R, Flamant F

Abstract excerpt

The human testis-determining factor resides within a 35-kilobase (kb) region of the Y chromosome immediately adjacent to the pseudoautosomal boundary. A candidate gene for human sex determination (SRY) was isolated in this region. Here, we describe a study of 25 cases of XY females with pure gonadal dysgenesis for mutations on the Y chromosome short arm, including SRY. Southern blotting revealed a sex-reversed...

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Source

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Identifiers

PMID: 1438307
DOI: 10.1073/pnas.89.22.11016
PMCID: PMC50474

Genes

SRY

Provenance

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Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

XY sex reversal associated with a deletion 5' to the SRY "HMG box" in the testis-determining region.PMID 1438307Read ↗

A novel missense mutation in the HMG box region of the SRY gene in a Japanese patient with an XY sex reversal.Semantic proximity Read ↗

Two new novel point mutations localized upstream and downstream of the HMG box region of the SRY gene in three Indian 46,XY females with sex reversal and gonadal tumour formationSemantic proximity Read ↗

A human XY female with a frame shift mutation in the candidate testis-determining gene SRY.Semantic proximity Read ↗

Analysis of the sex-determining region of the Y chromosome (SRY) in sex reversed patients: point-mutation in SRY causing sex-reversion in a 46,XY female.Semantic proximity Read ↗

Loss of sequences 3' to the testis-determining gene, SRY, including the Y pseudoautosomal boundary associated with partial testicular determination.Semantic proximity Read ↗

The role of SRY in mammalian sex determination.Semantic proximity Read ↗

Three novel SRY mutations in XY gonadal dysgenesis and the enigma of XY gonadal dysgenesis cases without SRY mutations.Semantic proximity Read ↗

Identification of a new missense mutation (Gly95Glu) in a highly conserved codon within the high-mobility group box of the sex-determining region Y gene: report on a 46,XY female with gonadal dysgenesis and yolk-sac tumor.Semantic proximity Read ↗

A naturally occurring deletion in the SRY promoter region affecting the Sp1 binding site is associated with sex reversal.Semantic proximity Read ↗

Familial mutation in the testis-determining gene SRY shared by an XY female and her normal father.Semantic proximity Read ↗

SRY protein function in sex determination: thinking outside the box.Semantic proximity Read ↗

Mutational analysis of SRY in XY females.Semantic proximity Read ↗

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