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Article

Sex reversal by loss of the C-terminal transactivation domain of human SOX9.

Nature genetics - 1 Jun 1996

Südbeck P, Schmitz M L, Baeuerle P A, Scherer G

Abstract excerpt

Haploinsufficiency for SOX9 has recently been identified as the cause for both campomelic dysplasia (CD), a human skeletal malformation syndrome, and the associated autosomal XY sex reversal. SOX9 contains a putative DNA-binding motif known as the high-mobility group (HMG) domain characterizing a...

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Identifiers

PMID: 8640233
DOI: 10.1038/ng0696-230

Genes

SOX9

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-8640233-2026-09-01.1. 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

Sex reversal by loss of the C-terminal transactivation domain of human SOX9.PMID 8640233Read ↗

Dimerization of SOX9 is required for chondrogenesis, but not for sex determination.Semantic proximity Read ↗

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

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

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

Deletion of long-range regulatory elements upstream of SOX9 causes campomelic dysplasiaSemantic proximity Read ↗

Mutations in SOX9 cause both autosomal sex reversal and campomelic dysplasia.Semantic proximity Read ↗

Genetic study of SOX9 in a case of 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 ↗

Regulation of the Orphan Nuclear Receptor Steroidogenic Factor 1 by Sox ProteinsSemantic proximity Read ↗

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

Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal: lack of genotype/phenotype correlations.Semantic proximity Read ↗

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

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