Sex Determining Region Y Box Protein 9 (SOX9)

CMPD1; CMD1; SRA1; Campomelic Dysplasia,Autosomal Sex-Reversal; Transcription factor SOX-9

SPN	Q483
HGNC	11204
MGI	98371
PubMed	24115316
UniProt	P48436
Wiki	SOX9

SOX9 recognizes the sequence CCTTGAG along with other members of the HMG-box class DNA-binding proteins. The isolated cDNA corresponded to 3.9 kb of the transcript, but Northern blot analysis detected a 4.5-kb transcript in adult testes, adult heart, and fetal brain. The SOX9 protein HMG box domain at amino acids 104-182 showed 71% similarity with the SRY HMG box, and the C-terminal third of the protein has a proline- and glutamine-rich region similar to activation domains present in some transcription factors. The genomic arrangement of SOX9 is such that the 5-prime end is oriented toward the centromere of chromosome 17 and closest to the breakpoint. It is possible that 1 or more exons are present 5-prime to the known exons and that these are disrupted by the translocation.

Reference

"Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene."
Nature 372:525-530(1994) [PubMed] [Europe PMC] [Abstract]

"Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9."
Cell 79:1111-1120(1994) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"A SOX9 duplication and familial 46,XX developmental testicular disorder."
N. Engl. J. Med. 364:91-93(2011) [PubMed] [Europe PMC] [Abstract]

"Mutations in SRY and SOX9: testis-determining genes."
Hum. Mutat. 9:388-395(1997) [PubMed] [Europe PMC] [Abstract]

"Mutations in SOX9, the gene responsible for Campomelic dysplasia and autosomal sex reversal."
Am. J. Hum. Genet. 57:1028-1036(1995) [PubMed] [Europe PMC] [Abstract]

"Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal: lack of genotype/phenotype correlations."
Hum. Mol. Genet. 6:91-98(1997) [PubMed] [Europe PMC] [Abstract]

"Novel missense mutation in the HMG box of SOX9 gene in a Japanese XY male resulted in campomelic dysplasia and severe defect in masculinization."
Hum. Mutat. Suppl. 1:S114-S116(1998) [PubMed] [Europe PMC] [Abstract]

"Functional and structural studies of wild type SOX9 and mutations causing campomelic dysplasia."
J. Biol. Chem. 274:24023-24030(1999) [PubMed] [Europe PMC] [Abstract]

"Acampomelic campomelic dysplasia with SOX9 mutation."
Am. J. Med. Genet. 93:421-425(2000) [PubMed] [Europe PMC] [Abstract]

"Acampomelic campomelic syndrome."
Am. J. Med. Genet. 104:239-245(2001) [PubMed] [Europe PMC] [Abstract]

"Compound effects of point mutations causing campomelic dysplasia/autosomal sex reversal upon SOX9 structure, nuclear transport, DNA binding, and transcriptional activation."
J. Biol. Chem. 276:27864-27872(2001) [PubMed] [Europe PMC] [Abstract]

"Loss of DNA-dependent dimerization of the transcription factor SOX9 as a cause for campomelic dysplasia."
Hum. Mol. Genet. 12:1439-1447(2003) [PubMed] [Europe PMC] [Abstract]

"Mutation analysis of SOX9 and single copy number variant analysis of the upstream region in eight patients with campomelic dysplasia and acampomelic campomelic dysplasia."
Am. J. Med. Genet. A 149:2882-2885(2009) [PubMed] [Europe PMC] [Abstract]

"Heterozygous SOX9 mutations allowing for residual DNA-binding and transcriptional activation lead to the acampomelic variant of campomelic dysplasia."
Hum. Mutat. 31:E1436-E1444(2010) [PubMed] [Europe PMC] [Abstract]