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 | P53784 | |||||||||||
| RefSeq (mRNA) | NM_005634 | NM_009237 | |||||||||||
| RefSeq (protein) | NP_005625 | NP_033263 | |||||||||||
| Location (UCSC) | Chr X: 139.59 – 139.59 Mb | Chr X: 60.89 – 60.89 Mb | |||||||||||
| PubMed search | |||||||||||||
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 hypopituitarism (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] [4]
See also
- SOX genes
References
- ↑ 1.0 1.1 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.
- ↑ 2.0 2.1 "Entrez Gene: SOX3 SRY (sex determining region Y)-box 3".
- ↑ 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.
- ↑ Barber, TM, T Cheetham & SG Ball (2004). "X-linked hypopituitarism: clinical and biochemical features of a rare cause of short stature". Endocrine Abstracts 7 (1): 248.
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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
External links
- SOX3 protein, human at the US National Library of Medicine Medical Subject Headings (MeSH)
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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