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Article

The role of SOX9 in autosomal sex reversal and campomelic dysplasia.

Philosophical transactions of the Royal Society of London. Series B, Biological sciences - 29 Nov 1995

Schafer A J, Dominguez-Steglich M A, Guioli S, Kwok C, Weller P A, Stevanovic M, Weissenbach J, Mansour S, Young I D, Goodfellow P N

Abstract excerpt

In eutherian mammals, the Y-chromosome gene SRY is required for induction of testis development. Although the Y chromosome is sex determining, loci located elsewhere in the genome participate in the complex cascade of genetic interactions required to form a testis. Male to female sex reversal (46,XY females) occurs at a high frequency in individuals afflicted with the skeletal malformation syndrome campomelic...

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Source

Identifiers

PMID: 8570691
DOI: 10.1098/rstb.1995.0161

Genes

SOX9
SRA1
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

The role of SOX9 in autosomal sex reversal and campomelic dysplasia.PMID 8570691Read ↗

Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene.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 SOX9 cause both autosomal sex reversal and campomelic dysplasia.Semantic proximity Read ↗

Adult acampomelic campomelic dysplasia and disorders of sex development due to a reciprocal translocation involving chromosome 17q24.3 upstream of the SOX9 gene.Semantic proximity Read ↗

<i>Sox9</i> in Testis DeterminationSemantic proximity Read ↗

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

Heterozygous deletion of Sox9 in mouse mimics the gonadal sex reversal phenotype associated with campomelic dysplasia in humans.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 ↗

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

A novel germ line mutation in SOX9 causes familial campomelic dysplasia and sex reversalSemantic proximity Read ↗

A gene involved in XY sex reversal is located on chromosome 9, distal to marker D9S1779.Semantic proximity Read ↗

Autosomal XX sex reversal caused by duplication of SOX9.Semantic proximity Read ↗

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