SOX9

SRY (sex determining region Y)-box 9

Rendering based on PDB 1S9M.
Identifiers
Symbols SOX9; CMD1; CMPD1; SRA1
External IDs OMIM: 608160 MGI: 98371 HomoloGene: 294 GeneCards: SOX9 Gene
RNA expression pattern
More reference expression data
Orthologs
Species Human Mouse
Entrez 6662 20682
Ensembl ENSG00000125398 ENSMUSG00000000567
UniProt P48436 Q571J2
RefSeq (mRNA) NM_000346 NM_011448.4
RefSeq (protein) NP_000337 NP_035578.3
Location (UCSC) Chr 17:
70.12 – 70.12 Mb		 Chr 11:
112.64 – 112.65 Mb
PubMed search [1] [2]

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

Contents

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]

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]

Interactions

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

See also

References

  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 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. 
  3. ^ 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. 
  4. ^ 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. 
  5. ^ 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. 
  6. ^ 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. 

Further reading

External links

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