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Article

Mutations of the SRY-responsive enhancer of SOX9 are uncommon in XY gonadal dysgenesis.

Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - 1 Jan 2010

Georg I, Bagheri-Fam S, Knower K C, Wieacker P, Scherer Gerd, Harley V R

Abstract excerpt

During mouse sex determination, SRY upregulates the core testis-specific enhancer of Sox9, TESCO. Mutations in human SRY are found in one third of cases with XY pure gonadal dysgenesis (XY GD; Swyer syndrome), while two thirds remain unexplained. Heterozygous SOX9 mutations can cause XY GD in ass...

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Source

Identifiers

PMID: 20838034
DOI: 10.1159/000320142

Genes

SRY
SOX9

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20838034-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutations of the SRY-responsive enhancer of SOX9 are uncommon in XY gonadal dysgenesis.PMID 20838034Read ↗

Normal Levels of Sox9 Expression in the Developing Mouse Testis Depend on the TES/TESCO Enhancer, but This Does Not Act Alone.Semantic proximity Read ↗

Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9Semantic proximity Read ↗

Two redundant transcription factor binding sites in a single enhancer are essential for mammalian sex determination.Semantic proximity Read ↗

Copy number variation of two separate regulatory regions upstream of <i>SOX9</i> causes isolated 46,XY or 46,XX disorder of sex developmentSemantic proximity Read ↗

Mutations in SRY and SOX9: testis-determining genes.Semantic proximity Read ↗

Failure of SOX9 regulation in 46XY disorders of sex development with SRY, SOX9 and SF1 mutations.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 ↗

Turning on the male--SRY, SOX9 and sex determination in mammals.Semantic proximity Read ↗

The role of SOX9 in autosomal sex reversal and campomelic dysplasia.Semantic proximity Read ↗

Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9.Semantic proximity Read ↗

Mutations in the testis-specific enhancer of SOX9 in the SRY independent sex-determining mechanism in the genus Tokudaia.Semantic proximity Read ↗

Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene.Semantic proximity Read ↗

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