Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

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...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adolescent
Share to Amino Acid Sequence
Share to Base Sequence

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Molecular Sequence Data

Share to Mutation

Share to Polymerase Chain Reaction

Source

Open in PubMed Open full text

Identifiers

PMID: 7717397
PMCID: PMC1801192

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

Two novel SRY missense mutations reducing DNA binding identified in XY females and their mosaic fathers.PMID 7717397Read ↗

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

Mutational analysis of SRY: nonsense and missense mutations in XY sex reversal.Semantic proximity Read ↗

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 ↗

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

The novel p.E89K mutation in the SRY gene inhibits DNA binding and causes the 46,XY disorder of sex development.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 ↗

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

Novel mutations affecting SRY DNA-binding activity: the HMG box N65H associated with 46,XY pure gonadal dysgenesis and the familial non-HMG box R30I associated with variable phenotypes.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 ↗

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

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

⌁Select a neighboring publication to make it the new centre.