SOX3

SRY (sex determining region Y)-box 3, also known as SOX3, is a human gene.cite web | title = Entrez Gene: SOX3 SRY (sex determining region Y)-box 3| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6658| accessdate = ] cite journal | author = Woods KS, Cundall M, Turton J, Rizotti K, Mehta A, Palmer R, Wong J, Chong WK, Al-Zyoud M, El-Ali M, Otonkoski T, Martinez-Barbera JP, Thomas PQ, Robinson IC, Lovell-Badge R, Woodward KJ, Dattani MT | title = Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism | journal = Am. J. Hum. Genet. | volume = 76 | issue = 5 | pages = 833–49 | year = 2005 | month = May | pmid = 15800844 | pmc = 1199372 | doi = 10.1086/430134 | url = | issn = ]

This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic brain development and in determination of cell fate. The encoded protein acts as a transcriptional activator.cite journal | author = Bylund M, Andersson E, Novitch BG, Muhr J | title = Vertebrate neurogenesis is counteracted by Sox1-3 activity | journal = Nat. Neurosci. | volume = 6 | issue = 11 | pages = 1162–8 | year = 2003 | month = November | pmid = 14517545 | doi = 10.1038/nn1131 | url = | issn = ] Mutations in this gene have been associated with X-linked hypopituitsarism (XH) and X-Linked Mental Retardation. Patients with XH are male, have short stature, exhibit a mild form of mental retardation and present pan-hypopituitarism.

ee also

* SOX genes

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Kamachi Y, Uchikawa M, Kondoh H |title=Pairing SOX off: with partners in the regulation of embryonic development. |journal=Trends Genet. |volume=16 |issue= 4 |pages= 182–7 |year= 2000 |pmid= 10729834 |doi=
*cite journal | author=Bowles J, Schepers G, Koopman P |title=Phylogeny of the SOX family of developmental transcription factors based on sequence and structural indicators. |journal=Dev. Biol. |volume=227 |issue= 2 |pages= 239–55 |year= 2001 |pmid= 11071752 |doi= 10.1006/dbio.2000.9883
*cite journal | author=Schepers GE, Teasdale RD, Koopman P |title=Twenty pairs of sox: extent, homology, and nomenclature of the mouse and human sox transcription factor gene families. |journal=Dev. Cell |volume=3 |issue= 2 |pages= 167–70 |year= 2002 |pmid= 12194848 |doi=
*cite journal | author=Denny P, Swift S, Brand N, "et al." |title=A conserved family of genes related to the testis determining gene, SRY. |journal=Nucleic Acids Res. |volume=20 |issue= 11 |pages= 2887 |year= 1992 |pmid= 1614875 |doi=
*cite journal | author=Stevanović M, Lovell-Badge R, Collignon J, Goodfellow PN |title=SOX3 is an X-linked gene related to SRY. |journal=Hum. Mol. Genet. |volume=2 |issue= 12 |pages= 2013–8 |year= 1994 |pmid= 8111369 |doi=
*cite journal | author=Collignon J, Sockanathan S, Hacker A, "et al." |title=A comparison of the properties of Sox-3 with Sry and two related genes, Sox-1 and Sox-2. |journal=Development |volume=122 |issue= 2 |pages= 509–20 |year= 1996 |pmid= 8625802 |doi=
*cite journal | author=Laumonnier F, Ronce N, Hamel BC, "et al." |title=Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency. |journal=Am. J. Hum. Genet. |volume=71 |issue= 6 |pages= 1450–5 |year= 2003 |pmid= 12428212 |doi=
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Aota S, Nakajima N, Sakamoto R, "et al." |title=Pax6 autoregulation mediated by direct interaction of Pax6 protein with the head surface ectoderm-specific enhancer of the mouse Pax6 gene. |journal=Dev. Biol. |volume=257 |issue= 1 |pages= 1–13 |year= 2003 |pmid= 12710953 |doi=
*cite journal | author=Weiss J, Meeks JJ, Hurley L, "et al." |title=Sox3 is required for gonadal function, but not sex determination, in males and females. |journal=Mol. Cell. Biol. |volume=23 |issue= 22 |pages= 8084–91 |year= 2003 |pmid= 14585968 |doi=
*cite journal | author=Dattani MT |title=Borjeson-Forssman-Lehmann syndrome: a novel pituitary phenotype due to mutation in a novel gene. |journal=J. Pediatr. Endocrinol. Metab. |volume=16 |issue= 9 |pages= 1207–9 |year= 2004 |pmid= 14714741 |doi=
*cite journal | author=Raverot G, Lejeune H, Kotlar T, "et al." |title=X-linked sex-determining region Y box 3 (SOX3) gene mutations are uncommon in men with idiopathic oligoazoospermic infertility. |journal=J. Clin. Endocrinol. Metab. |volume=89 |issue= 8 |pages= 4146–8 |year= 2004 |pmid= 15292361 |doi= 10.1210/jc.2004-0191
*cite journal | author=Solomon NM, Ross SA, Morgan T, "et al." |title=Array comparative genomic hybridisation analysis of boys with X linked hypopituitarism identifies a 3.9 Mb duplicated critical region at Xq27 containing SOX3. |journal=J. Med. Genet. |volume=41 |issue= 9 |pages= 669–78 |year= 2005 |pmid= 15342697 |doi= 10.1136/jmg.2003.016949
*cite journal | author=Gerhard DS, Wagner L, Feingold EA, "et al." |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504
*cite journal | author=Ross MT, Grafham DV, Coffey AJ, "et al." |title=The DNA sequence of the human X chromosome. |journal=Nature |volume=434 |issue= 7031 |pages= 325–37 |year= 2005 |pmid= 15772651 |doi= 10.1038/nature03440
*cite journal | author=Savare J, Bonneaud N, Girard F |title=SUMO represses transcriptional activity of the Drosophila SoxNeuro and human Sox3 central nervous system-specific transcription factors. |journal=Mol. Biol. Cell |volume=16 |issue= 6 |pages= 2660–9 |year= 2005 |pmid= 15788563 |doi= 10.1091/mbc.E04-12-1062
*cite journal | author=Woods KS, Cundall M, Turton J, "et al." |title=Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism. |journal=Am. J. Hum. Genet. |volume=76 |issue= 5 |pages= 833–49 |year= 2005 |pmid= 15800844 |doi= 10.1086/430134

External links

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