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Article

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

Nature - 29 Nov 1990

Jäger R J, Anvret M, Hall K, Scherer G

Abstract excerpt

The primary decision about male or female sexual development of the human embryo depends on the presence of the Y chromosome, more specifically on a gene on the Y chromosome encoding a testis-determining factor, TDF. The human sex-determining region has been delimited to a 35-kilobase interval near the Y pseudoautosomal boundary. In this region there is a candidate gene for TDF, termed SRY, which is conserved and...

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Source

Identifiers

PMID: 2247151
DOI: 10.1038/348452a0

Genes

SRY

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A human XY female with a frame shift mutation in the candidate testis-determining gene SRY.PMID 2247151Read ↗

Familial case with sequence variant in the testis-determining region associated with two sex phenotypes.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 ↗

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

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

Genetic evidence equating SRY and the testis-determining factor.Semantic proximity Read ↗

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

A novel sex-determining region on Y (SRY) nonsense mutation identified in a 45,X/47,XYY female.Semantic proximity Read ↗

Familial Frameshift SRY Mutation Inherited from a Mosaic Father with Testicular Dysgenesis SyndromeSemantic proximity Read ↗

Abnormalities of human sex determination.Semantic proximity Read ↗

A novel postzygotic nonsense mutation in SRY in familial XY gonadal dysgenesis.Semantic proximity Read ↗

Candidate genes in complete and partial XY sex reversal: mutation analysis of SRY, SRY-related genes and FTZ-F1.Semantic proximity Read ↗

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