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SRY (sex determining region Y)-box 9 (campomelic dysplasia, autosomal sex-reversal)
Symbols SOX9; CMPD1; CMD1; SRA1
External IDs OMIM608160 MGI98371 HomoloGene294 GeneCards: SOX9 Gene
RNA expression pattern
PBB GE SOX9 202936 s at tn.png
PBB GE SOX9 202935 s at tn.png
More reference expression data
Species Human Mouse
Entrez 6662 20682
Ensembl ENSG00000125398 ENSMUSG00000000567
UniProt P48436 Q571J2
RefSeq (mRNA) NM_000346 NM_011448
RefSeq (protein) NP_000337 NP_035578
Location (UCSC) Chr 17:
67.63 - 67.63 Mb
Chr 11:
112.6 - 112.6 Mb
PubMed search [1] [2]

Transcription factor SOX-9 is a protein that in humans is encoded by the SOX9 gene.[1][2]

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.[2]



SOX9 has been shown to interact with Steroidogenic factor 1,[3] MED12[4] and MAF.[5]

See also


  1. ^ Tommerup N, Schempp W, Meinecke P, Pedersen S, Bolund L, Brandt C, Goodpasture C, Guldberg P, Held KR, Reinwein H, et al. (Sep 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.  
  2. ^ a b "Entrez Gene: SOX9 SRY (sex determining region Y)-box 9 (campomelic dysplasia, autosomal sex-reversal)".  
  3. ^ De Santa Barbara, P; Bonneaud N, Boizet B, Desclozeaux M, Moniot B, Sudbeck P, Scherer G, Poulat F, Berta P (Nov. 1998). "Direct interaction of SRY-related protein SOX9 and steroidogenic factor 1 regulates transcription of the human anti-Müllerian hormone gene". Mol. Cell. Biol. (UNITED STATES) 18 (11): 6653–65. ISSN 0270-7306. PMID 9774680.  
  4. ^ Zhou, Rongjia; Bonneaud Nathalie, Yuan Chao-Xing, de Santa Barbara Pascal, Boizet Brigitte, Schomber Tibor, Scherer Gerd, Roeder Robert G, Poulat Francis, Berta Philippe, Tibor Schomber (Jul. 2002). "SOX9 interacts with a component of the human thyroid hormone receptor-associated protein complex". Nucleic Acids Res. (England) 30 (14): 3245–52. PMID 12136106.  
  5. ^ Huang, Wendong; Lu Ni, Eberspaecher Heidi, De Crombrugghe Benoit (Dec. 2002). "A new long form of c-Maf cooperates with Sox9 to activate the type II collagen gene". J. Biol. Chem. (United States) 277 (52): 50668–75. doi:10.1074/jbc.M206544200. ISSN 0021-9258. PMID 12381733.  

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.  
  • Lefebvre V, de Crombrugghe B (1998). "Toward understanding SOX9 function in chondrocyte differentiation.". Matrix Biol. 16 (9): 529–40. doi:10.1016/S0945-053X(98)90065-8. 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. doi:10.1002/0470868732.ch6. 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.  
  • 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.  
  • 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. doi:10.1016/0092-8674(94)90041-8. PMID 8001137.  
  • 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.  
  • 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. doi:10.1093/hmg/5.10.1625. PMID 8894698.  
  • 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. doi:10.1093/hmg/6.1.91. PMID 9002675.  
  • 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. doi:10.1073/pnas.95.18.10649. PMID 9724758.  
  • 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.  
  • 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. doi:10.1074/jbc.274.34.24023. PMID 10446171.  
  • 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. doi:10.1128/MCB.20.11.4149-4158.2000. PMID 10805756.  
  • Thong MK, Scherer G, Kozlowski K, et al. (2000). "Acampomelic campomelic dysplasia with SOX9 mutation.". Am. J. Med. Genet. 93 (5): 421–5. doi:10.1002/1096-8628(20000828)93:5<421::AID-AJMG14>3.0.CO;2-5. PMID 10951468.  
  • 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. doi:10.1034/j.1399-0004.2000.580310.x. PMID 11076045.  
  • 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.  

External links

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



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