Two novel SRY missense mutations reducing DNA binding identified in XY females and their mosaic fathers.

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Article

Two novel SRY missense mutations reducing DNA binding identified in XY females and their mosaic fathers.

American journal of human genetics - 1 Apr 1995

Schmitt-Ney M, Thiele H, Kaltwasser P, Bardoni B, Cisternino M, Scherer G

Abstract excerpt

Two novel mutations in the sex-determining gene SRY were identified by screening DNA from 30 sex-reversed XY females by using the SSCP assay. Both point mutations lead to an amino acid substitution in the DNA-binding high-mobility-group domain of the SRY protein. The first mutation, changing a serine at position 91 to glycine, was found in a sporadic case. The second mutation, leading to replacement of a highly...

Topics

Adolescent
Adult
Amino Acid Sequence
Base Sequence
Child
Child, Preschool
DNA
DNA-Binding Proteins
Female
Gonadal Dysgenesis, 46,XY
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Molecular Sequence Data

Mosaicism

Mutation

Nuclear Proteins

Polymerase Chain Reaction

Polymorphism, Single-Stranded Conformational

Source

Open in PubMed Open full text

Identifiers

PMID: 7717397
PMCID: PMC1801192

Genes

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7717397-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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