SOX3
From Wikipedia, the free encyclopedia
| SRY (sex determining region Y)-box 3 | ||||||||
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| Identifiers | ||||||||
| Symbols | SOX3; GHDX; MRGH; PHP; PHPX; SOXB | |||||||
| External IDs | OMIM: 313430 MGI: 98365 HomoloGene: 4118 GeneCards: SOX3 Gene | |||||||
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| RNA expression pattern | ||||||||
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| More reference expression data | ||||||||
| Orthologs | ||||||||
| Species | Human | Mouse | ||||||
| Entrez | 6658 | 20675 | ||||||
| Ensembl | ENSG00000134595 | ENSMUSG00000045179 | ||||||
| UniProt | P41225 | Q4VBD8 | ||||||
| RefSeq (mRNA) | NM_005634 | NM_009237.2 | ||||||
| RefSeq (protein) | NP_005625 | NP_033263.2 | ||||||
| Location (UCSC) | Chr X: 139.59 – 139.59 Mb |
Chr X: 58.14 – 58.15 Mb |
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| PubMed search | [1] | [2] |
Transcription factor SOX-3 is a protein that in humans is encoded by the SOX3 gene.[1][2][1]
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.[3] 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. [2]
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[edit] See also
[edit] References
- ^ a b 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 (Apr 2005). "Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism". Am J Hum Genet 76 (5): 833–49. doi:10.1086/430134. PMC 1199372. PMID 15800844. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1199372.
- ^ a b "Entrez Gene: SOX3 SRY (sex determining region Y)-box 3". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6658.
- ^ Bylund M, Andersson E, Novitch BG, Muhr J (November 2003). "Vertebrate neurogenesis is counteracted by Sox1-3 activity". Nat. Neurosci. 6 (11): 1162–8. doi:10.1038/nn1131. PMID 14517545.
[edit] Further reading
- Kamachi Y, Uchikawa M, Kondoh H (2000). "Pairing SOX off: with partners in the regulation of embryonic development.". Trends Genet. 16 (4): 182–7. doi:10.1016/S0168-9525(99)01955-1. PMID 10729834.
- Bowles J, Schepers G, Koopman P (2001). "Phylogeny of the SOX family of developmental transcription factors based on sequence and structural indicators.". Dev. Biol. 227 (2): 239–55. doi:10.1006/dbio.2000.9883. PMID 11071752.
- Schepers GE, Teasdale RD, Koopman P (2002). "Twenty pairs of sox: extent, homology, and nomenclature of the mouse and human sox transcription factor gene families.". Dev. Cell 3 (2): 167–70. doi:10.1016/S1534-5807(02)00223-X. PMID 12194848.
- Denny P, Swift S, Brand N, et al. (1992). "A conserved family of genes related to the testis determining gene, SRY.". Nucleic Acids Res. 20 (11): 2887. doi:10.1093/nar/20.11.2887. PMC 336939. PMID 1614875. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=336939.
- Stevanović M, Lovell-Badge R, Collignon J, Goodfellow PN (1994). "SOX3 is an X-linked gene related to SRY.". Hum. Mol. Genet. 2 (12): 2013–8. doi:10.1093/hmg/2.12.2013. PMID 8111369.
- Collignon J, Sockanathan S, Hacker A, et al. (1996). "A comparison of the properties of Sox-3 with Sry and two related genes, Sox-1 and Sox-2.". Development 122 (2): 509–20. PMID 8625802.
- Laumonnier F, Ronce N, Hamel BC, et al. (2003). "Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency.". Am. J. Hum. Genet. 71 (6): 1450–5. doi:10.1086/344661. PMC 420004. PMID 12428212. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=420004.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=139241.
- Aota S, Nakajima N, Sakamoto R, et al. (2003). "Pax6 autoregulation mediated by direct interaction of Pax6 protein with the head surface ectoderm-specific enhancer of the mouse Pax6 gene.". Dev. Biol. 257 (1): 1–13. doi:10.1016/S0012-1606(03)00058-7. PMID 12710953.
- Weiss J, Meeks JJ, Hurley L, et al. (2003). "Sox3 is required for gonadal function, but not sex determination, in males and females.". Mol. Cell. Biol. 23 (22): 8084–91. doi:10.1128/MCB.23.22.8084-8091.2003. PMC 262333. PMID 14585968. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=262333.
- Dattani MT (2004). "Borjeson-Forssman-Lehmann syndrome: a novel pituitary phenotype due to mutation in a novel gene.". J. Pediatr. Endocrinol. Metab. 16 (9): 1207–9. PMID 14714741.
- Raverot G, Lejeune H, Kotlar T, et al. (2004). "X-linked sex-determining region Y box 3 (SOX3) gene mutations are uncommon in men with idiopathic oligoazoospermic infertility.". J. Clin. Endocrinol. Metab. 89 (8): 4146–8. doi:10.1210/jc.2004-0191. PMID 15292361.
- Solomon NM, Ross SA, Morgan T, et al. (2005). "Array comparative genomic hybridisation analysis of boys with X linked hypopituitarism identifies a 3.9 Mb duplicated critical region at Xq27 containing SOX3.". J. Med. Genet. 41 (9): 669–78. doi:10.1136/jmg.2003.016949. PMC 1735898. PMID 15342697. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1735898.
- Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=528928.
- Ross MT, Grafham DV, Coffey AJ, et al. (2005). "The DNA sequence of the human X chromosome.". Nature 434 (7031): 325–37. doi:10.1038/nature03440. PMC 2665286. PMID 15772651. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2665286.
- Savare J, Bonneaud N, Girard F (2005). "SUMO represses transcriptional activity of the Drosophila SoxNeuro and human Sox3 central nervous system-specific transcription factors.". Mol. Biol. Cell 16 (6): 2660–9. doi:10.1091/mbc.E04-12-1062. PMC 1142414. PMID 15788563. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1142414.
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