SOX9

SOX9

SRY (sex determining region Y)-box 9 (campomelic dysplasia, autosomal sex-reversal), also known as SOX9, is a human gene.cite web | title = Entrez Gene: SOX9 SRY (sex determining region Y)-box 9 (campomelic dysplasia, autosomal sex-reversal)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6662| accessdate = ]

PBB_Summary
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summary_text = 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.cite web | title = Entrez Gene: SOX9 SRY (sex determining region Y)-box 9 (campomelic dysplasia, autosomal sex-reversal)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6662| accessdate = ]

ee also

* SOX genes

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Ninomiya S, Narahara K, Tsuji K, "et al." |title=Acampomelic campomelic syndrome and sex reversal associated with de novo t(12;17) translocation. |journal=Am. J. Med. Genet. |volume=56 |issue= 1 |pages= 31–4 |year= 1995 |pmid= 7747782 |doi= 10.1002/ajmg.1320560109
*cite journal | author=Lefebvre V, de Crombrugghe B |title=Toward understanding SOX9 function in chondrocyte differentiation. |journal=Matrix Biol. |volume=16 |issue= 9 |pages= 529–40 |year= 1998 |pmid= 9569122 |doi=
*cite journal | author=Harley VR |title=The molecular action of testis-determining factors SRY and SOX9. |journal=Novartis Found. Symp. |volume=244 |issue= |pages= 57–66; discussion 66–7, 79–85, 253–7 |year= 2002 |pmid= 11990798 |doi=
*cite journal | author=Kwok C, Weller PA, Guioli S, "et al." |title=Mutations in SOX9, the gene responsible for Campomelic dysplasia and autosomal sex reversal. |journal=Am. J. Hum. Genet. |volume=57 |issue= 5 |pages= 1028–36 |year= 1995 |pmid= 7485151 |doi=
*cite journal | author=Foster JW, Dominguez-Steglich MA, Guioli S, "et al." |title=Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene. |journal=Nature |volume=372 |issue= 6506 |pages= 525–30 |year= 1995 |pmid= 7990924 |doi= 10.1038/372525a0
*cite journal | author=Wagner T, Wirth J, Meyer J, "et al." |title=Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9. |journal=Cell |volume=79 |issue= 6 |pages= 1111–20 |year= 1995 |pmid= 8001137 |doi=
*cite journal | author=Tommerup N, Schempp W, Meinecke P, "et al." |title=Assignment of an autosomal sex reversal locus (SRA1) and campomelic dysplasia (CMPD1) to 17q24.3-q25.1. |journal=Nat. Genet. |volume=4 |issue= 2 |pages= 170–4 |year= 1993 |pmid= 8348155 |doi= 10.1038/ng0693-170
*cite journal | author=Südbeck P, Schmitz ML, Baeuerle PA, Scherer G |title=Sex reversal by loss of the C-terminal transactivation domain of human SOX9. |journal=Nat. Genet. |volume=13 |issue= 2 |pages= 230–2 |year= 1996 |pmid= 8640233 |doi= 10.1038/ng0696-230
*cite journal | author=Cameron FJ, Hageman RM, Cooke-Yarborough C, "et al." |title=A novel germ line mutation in SOX9 causes familial campomelic dysplasia and sex reversal. |journal=Hum. Mol. Genet. |volume=5 |issue= 10 |pages= 1625–30 |year= 1997 |pmid= 8894698 |doi=
*cite journal | author=Meyer J, Südbeck P, Held M, "et al." |title=Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal: lack of genotype/phenotype correlations. |journal=Hum. Mol. Genet. |volume=6 |issue= 1 |pages= 91–8 |year= 1997 |pmid= 9002675 |doi=
*cite journal | author=Cameron FJ, Sinclair AH |title=Mutations in SRY and SOX9: testis-determining genes. |journal=Hum. Mutat. |volume=9 |issue= 5 |pages= 388–95 |year= 1997 |pmid= 9143916 |doi= 10.1002/(SICI)1098-1004(1997)9:5<388::AID-HUMU2>3.0.CO;2-0 |doilabel=10.1002/(SICI)1098-1004(1997)9:5388::AID-HUMU23.0.CO;2-0
*cite journal | author=Wunderle VM, Critcher R, Hastie N, "et al." |title=Deletion of long-range regulatory elements upstream of SOX9 causes campomelic dysplasia. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=95 |issue= 18 |pages= 10649–54 |year= 1998 |pmid= 9724758 |doi=
*cite journal | author=De Santa Barbara P, Bonneaud N, Boizet B, "et al." |title=Direct interaction of SRY-related protein SOX9 and steroidogenic factor 1 regulates transcription of the human anti-Müllerian hormone gene. |journal=Mol. Cell. Biol. |volume=18 |issue= 11 |pages= 6653–65 |year= 1998 |pmid= 9774680 |doi=
*cite journal | author=McDowall S, Argentaro A, Ranganathan S, "et al." |title=Functional and structural studies of wild type SOX9 and mutations causing campomelic dysplasia. |journal=J. Biol. Chem. |volume=274 |issue= 34 |pages= 24023–30 |year= 1999 |pmid= 10446171 |doi=
*cite journal | author=Huang W, Zhou X, Lefebvre V, de Crombrugghe B |title=Phosphorylation of SOX9 by cyclic AMP-dependent protein kinase A enhances SOX9's ability to transactivate a Col2a1 chondrocyte-specific enhancer. |journal=Mol. Cell. Biol. |volume=20 |issue= 11 |pages= 4149–58 |year= 2000 |pmid= 10805756 |doi=
*cite journal | author=Thong MK, Scherer G, Kozlowski K, "et al." |title=Acampomelic campomelic dysplasia with SOX9 mutation. |journal=Am. J. Med. Genet. |volume=93 |issue= 5 |pages= 421–5 |year= 2000 |pmid= 10951468 |doi=
*cite journal | author=Ninomiya S, Yokoyama Y, Teraoka M, "et al." |title=A novel mutation (296 del G) of the SOX90 gene in a patient with campomelic syndrome and sex reversal. |journal=Clin. Genet. |volume=58 |issue= 3 |pages= 224–7 |year= 2001 |pmid= 11076045 |doi=
*cite journal | author=Preiss S, Argentaro A, Clayton A, "et al." |title=Compound effects of point mutations causing campomelic dysplasia/autosomal sex reversal upon SOX9 structure, nuclear transport, DNA binding, and transcriptional activation. |journal=J. Biol. Chem. |volume=276 |issue= 30 |pages= 27864–72 |year= 2001 |pmid= 11323423 |doi= 10.1074/jbc.M101278200

External links

*

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