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Article

Dimerization of SOX9 is required for chondrogenesis, but not for sex determination.

Human molecular genetics - 15 Jul 2003

Bernard Pascal, Tang Paisu, Liu Siyuan, Dewing Phoebe, Harley Vincent R, Vilain Eric

Abstract excerpt

The SRY-related SOX9 gene is involved in both chondrogenesis and the early steps of mammalian sex determination. Mutations in the human SOX9 gene cause campomelic dysplasia, a severe skeletal malformation syndrome associated with male-to-female sex reversal in most, but not all, XY individuals. H...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 12837698
DOI: 10.1093/hmg/ddg182

Genes

SOX9
SRY

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-12837698-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Dimerization of SOX9 is required for chondrogenesis, but not for sex determination.PMID 12837698Read ↗

Loss of DNA-dependent dimerization of the transcription factor SOX9 as a cause for campomelic dysplasia.Semantic proximity Read ↗

Sex reversal by loss of the C-terminal transactivation domain of human SOX9.Semantic proximity Read ↗

Testicular dysgenesis/regression without campomelic dysplasia in patients carrying missense mutations and upstream deletion of SOX 9Semantic proximity Read ↗

Functional and structural studies of wild type SOX9 and mutations causing campomelic dysplasia.Semantic proximity Read ↗

Heterozygous SOX9 mutations allowing for residual DNA-binding and transcriptional activation lead to the acampomelic variant of campomelic dysplasia.Semantic proximity Read ↗

A novel mutation (296 del G) of the SOX90 gene in a patient with campomelic syndrome and sex reversal.Semantic proximity Read ↗

Variants in the SOX9 transactivation middle domain induce axial skeleton dysplasia and scoliosisSemantic proximity Read ↗

A Campomelic Dysplasia A76E Mutation in Sox9 Destabilizes Protein and DNA Binding Dynamics.Semantic proximity Read ↗

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

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

Genetic study of SOX9 in a case of campomelic dysplasia.Semantic proximity Read ↗

The dimerization domain of SOX9 is required for transcription activation of a chondrocyte-specific chromatin DNA template.Semantic proximity Read ↗

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