SOX9

SRY (sex determining region Y)-box 9 (campomelic dysplasia, autosomal sex-reversal)
Identifiers
Symbols	SOX9 ; CMPD1; CMD1; SRA1
External IDs	Template:OMIM5 Template:MGI HomoloGene: 294
Gene ontology Molecular function Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Biological process Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO
RNA expression pattern
File:PBB GE SOX9 202936 s at tn.png
File:PBB GE SOX9 202935 s at tn.png
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

SRY (sex determining region Y)-box 9 (campomelic dysplasia, autosomal sex-reversal), also known as SOX9, is a human gene.

The protein encoded by this gene recognizes the sequence CCTTGAG along with other members of the HMG-box class DNA-binding proteins. It acts during chondrocyte differentiation and, with steroidogenic factor 1, regulates transcription of the anti-Muellerian hormone (AMH) gene. Deficiencies lead to the skeletal malformation syndrome campomelic dysplasia, frequently with sex reversal.

See also

• SOX genes

Further reading

• Ninomiya S, Narahara K, Tsuji K; et al. (1995). "Acampomelic campomelic syndrome and sex reversal associated with de novo t(12;17) translocation". Am. J. Med. Genet. 56 (1): 31–4. doi:10.1002/ajmg.1320560109. PMID 7747782.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Lefebvre V, de Crombrugghe B (1998). "Toward understanding SOX9 function in chondrocyte differentiation". Matrix Biol. 16 (9): 529–40. PMID 9569122.
• Harley VR (2002). "The molecular action of testis-determining factors SRY and SOX9". Novartis Found. Symp. 244: 57–66, discussion 66-7, 79–85, 253–7. PMID 11990798.
• Kwok C, Weller PA, Guioli S; et al. (1995). "Mutations in SOX9, the gene responsible for Campomelic dysplasia and autosomal sex reversal". Am. J. Hum. Genet. 57 (5): 1028–36. PMID 7485151.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Foster JW, Dominguez-Steglich MA, Guioli S; et al. (1995). "Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene". Nature. 372 (6506): 525–30. doi:10.1038/372525a0. PMID 7990924.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Wagner T, Wirth J, Meyer J; et al. (1995). "Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9". Cell. 79 (6): 1111–20. PMID 8001137.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Tommerup N, Schempp W, Meinecke P; et al. (1993). "Assignment of an autosomal sex reversal locus (SRA1) and campomelic dysplasia (CMPD1) to 17q24.3-q25.1". Nat. Genet. 4 (2): 170–4. doi:10.1038/ng0693-170. PMID 8348155.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Südbeck P, Schmitz ML, Baeuerle PA, Scherer G (1996). "Sex reversal by loss of the C-terminal transactivation domain of human SOX9". Nat. Genet. 13 (2): 230–2. doi:10.1038/ng0696-230. PMID 8640233.CS1 maint: Multiple names: authors list (link)
• Cameron FJ, Hageman RM, Cooke-Yarborough C; et al. (1997). "A novel germ line mutation in SOX9 causes familial campomelic dysplasia and sex reversal". Hum. Mol. Genet. 5 (10): 1625–30. PMID 8894698.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Meyer J, Südbeck P, Held M; et al. (1997). "Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal: lack of genotype/phenotype correlations". Hum. Mol. Genet. 6 (1): 91–8. PMID 9002675.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Cameron FJ, Sinclair AH (1997). "Mutations in SRY and SOX9: testis-determining genes". Hum. Mutat. 9 (5): 388–95. doi:10.1002/(SICI)1098-1004(1997)9:5<388::AID-HUMU2>3.0.CO;2-0. PMID 9143916.
• Wunderle VM, Critcher R, Hastie N; et al. (1998). "Deletion of long-range regulatory elements upstream of SOX9 causes campomelic dysplasia". Proc. Natl. Acad. Sci. U.S.A. 95 (18): 10649–54. PMID 9724758.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• De Santa Barbara P, Bonneaud N, Boizet B; et al. (1998). "Direct interaction of SRY-related protein SOX9 and steroidogenic factor 1 regulates transcription of the human anti-Müllerian hormone gene". Mol. Cell. Biol. 18 (11): 6653–65. PMID 9774680.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• McDowall S, Argentaro A, Ranganathan S; et al. (1999). "Functional and structural studies of wild type SOX9 and mutations causing campomelic dysplasia". J. Biol. Chem. 274 (34): 24023–30. PMID 10446171.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Huang W, Zhou X, Lefebvre V, de Crombrugghe B (2000). "Phosphorylation of SOX9 by cyclic AMP-dependent protein kinase A enhances SOX9's ability to transactivate a Col2a1 chondrocyte-specific enhancer". Mol. Cell. Biol. 20 (11): 4149–58. PMID 10805756.CS1 maint: Multiple names: authors list (link)
• Thong MK, Scherer G, Kozlowski K; et al. (2000). "Acampomelic campomelic dysplasia with SOX9 mutation". Am. J. Med. Genet. 93 (5): 421–5. PMID 10951468.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Ninomiya S, Yokoyama Y, Teraoka M; et al. (2001). "A novel mutation (296 del G) of the SOX90 gene in a patient with campomelic syndrome and sex reversal". Clin. Genet. 58 (3): 224–7. PMID 11076045.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Preiss S, Argentaro A, Clayton A; et al. (2001). "Compound effects of point mutations causing campomelic dysplasia/autosomal sex reversal upon SOX9 structure, nuclear transport, DNA binding, and transcriptional activation". J. Biol. Chem. 276 (30): 27864–72. doi:10.1074/jbc.M101278200. PMID 11323423.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)

External links

• SOX9+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)

This article incorporates text from the United States National Library of Medicine, which is in the public domain.