Mutations in the conserved domain of SRY are uncommon in XY gonadal dysgenesis.

doi:10.1007/BF00220087

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Article

Mutations in the conserved domain of SRY are uncommon in XY gonadal dysgenesis.

Human genetics - 1 Nov 1992

Pivnick E K, Wachtel S, Woods D, Simpson J L, Bishop C E

Abstract excerpt

In order to evaluate the role of SRY in the determination of the testis, we sequenced the conserved domain of the SRY gene in 8 patients with 46,XY gonadal dysgenesis and 3 patients with related disorders, and compared our data with those obtained in 6 other similar studies. In our study, a 609-bp fragment of SRY was amplified by the polymerase chain reaction and the internal conserved motif was sequenced. SRY...

Topics

Adolescent
Base Sequence
Child, Preschool
Conserved Sequence
DNA, Single-Stranded
DNA-Binding Proteins
Disorders of Sex Development
Female
Gonadal Dysgenesis
Humans
Infant

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Karyotyping

Molecular Sequence Data

Mutation

Nuclear Proteins

Polymerase Chain Reaction

Sex Chromosomes

Sex Differentiation

Source

Open in PubMed

Identifiers

PMID: 1487248
DOI: 10.1007/BF00220087

Genes

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1487248-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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Mutations in the conserved domain of SRY are uncommon in XY gonadal dysgenesis.PMID 1487248Read ↗

Analysis of the testis-determining gene SRY in patients with XY gonadal dysgenesis.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 ↗

The presence of the testicular determining sequence, SRY, in 46,XY females with gonadal dysgenesis (Swyer syndrome).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 ↗

Lack of mutational alteration in the conserved regions of ZFY and SRY genes of 46,XY females with gonadal dysgenesis.Semantic proximity Read ↗

Evidence for increased prevalence of SRY mutations in XY females with complete rather than partial gonadal dysgenesis.Semantic proximity Read ↗

Mutational analysis of SRY in XY females.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 ↗

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 novel mutation in the SRY gene causing 46 XY complete gonadal dysgenesis in a Chinese patientSemantic proximity Read ↗

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

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