SOX9

SRY (sex determining region Y)-box 9
	; Rendering based on PDB 1S9M.
Available structures
PDB	1S9M, 1SX9
Identifiers
Symbols	SOX9; CMD1; CMPD1; SRA1
External IDs	OMIM: 608160 MGI: 98371 HomoloGene: 294 GeneCards: SOX9 Gene
Gene Ontology
Molecular function	• sequence-specific DNA binding transcription factor activity; • sequence-specific DNA binding;
Cellular component	• nucleus; • nucleolus;
Biological process	• cartilage condensation; • cell fate specification; • epithelial to mesenchymal transition; • hair follicle development; • regulation of transcription from RNA polymerase II promoter; • transcription from RNA polymerase II promoter; • signal transduction; • spermatogenesis; • heart development; • male gonad development; • neural crest cell development; • male germ-line sex determination; • negative regulation of bone mineralization; • positive regulation of epithelial cell differentiation; • negative regulation of chondrocyte differentiation; • regulation of cell proliferation; • regulation of apoptosis; • negative regulation of myoblast differentiation; • negative regulation of transcription, DNA-dependent; • positive regulation of transcription from RNA polymerase II promoter; • oligodendrocyte differentiation; • negative regulation of epithelial cell proliferation; • Sertoli cell development; • endochondral bone morphogenesis; • prostate gland morphogenesis; • epithelial cell proliferation involved in prostatic bud elongation; • intestinal epithelial structure maintenance; • cellular response to retinoic acid; • renal vesicle induction; • positive regulation of kidney development; • positive regulation of branching involved in ureteric bud morphogenesis;
	Sources: Amigo / QuickGO
RNA expression pattern
	More reference expression data
Orthologs

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

[edit] Function

SOX-9 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-Müllerian hormone (AMH) gene.^[2]

[edit] Clinical significance

Deficiencies lead to the skeletal malformation syndrome campomelic dysplasia, frequently with autosomal sex-reversal.^[2]

SOX9 sits in a gene desert on 17q24 in humans. Deletions, disruptions by translocation breakpoints and a single point mutation of highly conserved non-coding elements located > 1 Mb from the transcription unit on either side of SOX9 have been associated with Pierre Robin Sequence.^[3]

[edit] Interactions

SOX9 has been shown to interact with Steroidogenic factor 1,^[4] MED12^[5] and MAF.^[6]

[edit] See also

SOX genes

[edit] References

^ 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.
^ ^a ^b ^c "Entrez Gene: SOX9 SRY (sex determining region Y)-box 9 (campomelic dysplasia, autosomal sex-reversal)". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6662.
^ Benko S, Fantes JA, Amiel J, Kleinjan DJ, Thomas S, Ramsay J, Jamshidi N, Essafi A, Heaney S, Gordon CT, McBride D, Golzio C, Fisher M, Perry P, Abadie V, Ayuso C, Holder-Espinasse M, Kilpatrick N, Lees MM, Picard A, Temple IK, Thomas P, Vazquez MP, Vekemans M, Roest Crollius H, Hastie ND, Munnich A, Etchevers HC, Pelet A, Farlie PG, Fitzpatrick DR, Lyonnet S (March 2009). "Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence". Nat. Genet. 41 (3): 359–64. doi:10.1038/ng.329. PMID 19234473.
^ De Santa Barbara P, Bonneaud N, Boizet B, Desclozeaux M, Moniot B, Sudbeck P, Scherer G, Poulat F, Berta P (November 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. PMC 109250. PMID 9774680. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=109250.
^ Zhou R, Bonneaud N, Yuan CX, de Santa Barbara P, Boizet B, Schomber T, Scherer G, Roeder RG, Poulat F, Berta P, Tibor S (July 2002). "SOX9 interacts with a component of the human thyroid hormone receptor-associated protein complex". Nucleic Acids Res. 30 (14): 3245–52. doi:10.1093/nar/gkf443. PMC 135763. PMID 12136106. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=135763.
^ Huang W, Lu N, Eberspaecher H, De Crombrugghe B (December 2002). "A new long form of c-Maf cooperates with Sox9 to activate the type II collagen gene". J. Biol. Chem. 277 (52): 50668–75. doi:10.1074/jbc.M206544200. PMID 12381733.

[edit] 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. PMC 1801368. PMID 7485151. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1801368.
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. PMC 27949. PMID 9724758. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=27949.
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. PMC 109250. PMID 9774680. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=109250.
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. PMC 85784. PMID 10805756. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=85784.
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.

[edit] External links

MeSH SOX9+protein,+human

This article on a gene on chromosome 17 is a stub. You can help Wikipedia by expanding it.

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

[pmid8348155-0] 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.

[entrez-1] "Entrez Gene: SOX9 SRY (sex determining region Y)-box 9 (campomelic dysplasia, autosomal sex-reversal)". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6662.

[pmid19234473-2] Benko S, Fantes JA, Amiel J, Kleinjan DJ, Thomas S, Ramsay J, Jamshidi N, Essafi A, Heaney S, Gordon CT, McBride D, Golzio C, Fisher M, Perry P, Abadie V, Ayuso C, Holder-Espinasse M, Kilpatrick N, Lees MM, Picard A, Temple IK, Thomas P, Vazquez MP, Vekemans M, Roest Crollius H, Hastie ND, Munnich A, Etchevers HC, Pelet A, Farlie PG, Fitzpatrick DR, Lyonnet S (March 2009). "Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence". Nat. Genet. 41 (3): 359–64. doi:10.1038/ng.329. PMID 19234473.

[pmid9774680-3] De Santa Barbara P, Bonneaud N, Boizet B, Desclozeaux M, Moniot B, Sudbeck P, Scherer G, Poulat F, Berta P (November 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. PMC 109250. PMID 9774680. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=109250.

[pmid12136106-4] Zhou R, Bonneaud N, Yuan CX, de Santa Barbara P, Boizet B, Schomber T, Scherer G, Roeder RG, Poulat F, Berta P, Tibor S (July 2002). "SOX9 interacts with a component of the human thyroid hormone receptor-associated protein complex". Nucleic Acids Res. 30 (14): 3245–52. doi:10.1093/nar/gkf443. PMC 135763. PMID 12136106. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=135763.

[pmid12381733-5] Huang W, Lu N, Eberspaecher H, De Crombrugghe B (December 2002). "A new long form of c-Maf cooperates with Sox9 to activate the type II collagen gene". J. Biol. Chem. 277 (52): 50668–75. doi:10.1074/jbc.M206544200. PMID 12381733.

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SOX9

Contents

[edit] Function

[edit] Clinical significance

[edit] Interactions

[edit] See also

[edit] References

[edit] Further reading

[edit] External links

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