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

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

Journal of endocrinological investigation - 1 Jan 2000

Assumpção J G, Ferraz L F Caldas, Benedetti C E, Maciel-Guerra A T, Guerra G, Marques-de-Faria A P, Baptista M T Matias, de Mello M P

Abstract excerpt

Male to female sex reversal results from failure of testis development. Mutations in the SRY gene or in other genes involved in the sexual differentiation pathway are considered to cause XY gonadal dysgenesis. The majority of the mutations in the SRY described so far are located within the SRY coding region, mainly in the HMG-box conserved domain. Comparison of 5' flanking SRY gene sequences among different...

Read the complete abstract on PubMed

Topics

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

Share to Binding Sites
Share to Disorders of Sex Development

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

Share to Gene Deletion

Share to Genes, sry

Share to Gonads

Share to Promoter Regions, Genetic

Share to Sequence Alignment

Share to Sp1 Transcription Factor

Source

Identifiers

PMID: 16218050
DOI: 10.1007/BF03347266

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 naturally occurring deletion in the SRY promoter region affecting the Sp1 binding site is associated with sex reversal.PMID 16218050Read ↗

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 ↗

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

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 ↗

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

Mutations in the conserved domain of SRY are uncommon in XY gonadal dysgenesis.Semantic proximity Read ↗

The Molecular Action and Regulation of the Testis-Determining Factors, SRY (Sex-Determining Region on the Y Chromosome) and SOX9 [SRY-Related High-Mobility Group (HMG) Box 9]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 ↗

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

A conserved NR5A1-responsive enhancer regulates SRY in testis-determinationSemantic proximity Read ↗

A missense mutation (c.226C>A) in HMG box SRY gene affects nNLS function in 46,XY sex reversal female.Semantic proximity Read ↗

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