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 =| accessdate = ]

section_title =
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 =| accessdate = ]

ee also

* SOX genes


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


update_page = yes
require_manual_inspection = no
update_protein_box = yes
update_summary = yes
update_citations = yes

Wikimedia Foundation. 2010.

Look at other dictionaries:

  • XY sex-determination system — Drosophila sex chromosomes The XY sex determination system is the sex determination system found in humans, most other mammals, some insects (Drosophila) and some plants (Ginkgo). In this system, females have two of the same kind of sex… …   Wikipedia

  • Sex determination and differentiation (human) — Human sex determination refers to the processes by which an individual becomes either a male or female during development.The Jost ParadigmUnder typical circumstances, the sex of an individual will be determined and expressed through the… …   Wikipedia

  • Steroidogenic factor 1 — Nuclear receptor subfamily 5, group A, member 1 PDB rendering based on 1ymt …   Wikipedia

  • MAF (gene) — V maf musculoaponeurotic fibrosarcoma oncogene homolog (avian) Identifiers Symbols MAF; MGC71685; c MAF External IDs …   Wikipedia

  • Geschlechtsdetermination — Übergeordnet Reproduktions Entwicklungsprozess Untergeordnet Genetische/Somatische/Männliche/Weibliche/Primäre/Paarungstyp Geschlechsdetermination …   Deutsch Wikipedia

  • Dysplasie campomélique — Référence MIM 114290 Transmission Dominante Chromosome 17q24.3 q25.1 Gène SOX9 Empreinte parentale Non …   Wikipédia en Français

  • Neural crest — The formation of neural crest during the process of neurulation. Neural crest is first induced in the region of the neural plate border. After neural tube closure, neural crest delaminates from the region between the dorsal neural tube and… …   Wikipedia

  • SOX genes — encode a family of transcription factors that bind to the minor groove in DNA, and belong to a super family of genes characterized by a homologous sequence called the HMG (high mobility group) box. This HMG box is a DNA binding domain that is… …   Wikipedia

  • Campomelic dysplasia — Infobox Disease Name = PAGENAME Caption = DiseasesDB = 33419 ICD10 = ICD9 = ICDO = OMIM = 114290 MedlinePlus = eMedicineSubj = eMedicineTopic = eMedicine mult = MeshID = Camptomelic dysplasia is a genetic disorder, camptomelic or campomelic refer …   Wikipedia

  • SUMO network — consists of enzymes and substrates involved in the dynamic posttranslational modification process of sumoylation (i.e. transfer of SUMO protein to substrates). Network membersThe SUMO network members (gene name and aliases) as published in the… …   Wikipedia

Share the article and excerpts

Direct link
Do a right-click on the link above
and select “Copy Link”

We are using cookies for the best presentation of our site. Continuing to use this site, you agree with this.