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{{ | '''Transcription factor SOX-3''' is a [[protein]] that in humans is encoded by the ''SOX3'' [[gene]].<ref name="pmid15800844">{{cite journal | vauthors = 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 = American Journal of Human Genetics | volume = 76 | issue = 5 | pages = 833–49 | date = May 2005 | pmid = 15800844 | pmc = 1199372 | doi = 10.1086/430134 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: SOX3 SRY (sex determining region Y)-box 3| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6658| accessdate = }}</ref><ref name="pmid15800844" /> | ||
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This gene encodes a member of the [[SOX genes|SOX]] (SRY-related [[HMG-box]]) family of [[transcription factor]]s involved in the regulation of embryonic brain development and in determination of cell fate. The encoded protein acts as a transcriptional activator.<ref name="pmid14517545">{{cite journal | vauthors = Bylund M, Andersson E, Novitch BG, Muhr J | title = Vertebrate neurogenesis is counteracted by Sox1-3 activity | journal = Nature Neuroscience | volume = 6 | issue = 11 | pages = 1162–8 | date = Nov 2003 | pmid = 14517545 | doi = 10.1038/nn1131 }}</ref> 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. <ref name="entrez"/> <ref name="barber">{{cite journal | vauthors = Barber, TM, Cheetham T, Ball SG | title = X-linked hypopituitarism: clinical and biochemical features of a rare cause of short stature | journal = Endocrine Abstracts | volume = 7 | issue = 1 | pages = 248 | year = 2004 | month = | pmid = | doi = | url = http://www.endocrine-abstracts.org/ea/0007/ea0007p248.htm }}</ref> | |||
== See also == | |||
* [[SOX gene family]] | |||
== | == References == | ||
{{reflist}} | |||
== Further reading == | |||
==Further reading== | |||
{{refbegin | 2}} | {{refbegin | 2}} | ||
* {{cite journal | vauthors = Kamachi Y, Uchikawa M, Kondoh H | title = Pairing SOX off: with partners in the regulation of embryonic development | journal = Trends in Genetics | volume = 16 | issue = 4 | pages = 182–7 | date = Apr 2000 | pmid = 10729834 | doi = 10.1016/S0168-9525(99)01955-1 }} | |||
* {{cite journal | vauthors = Bowles J, Schepers G, Koopman P | title = Phylogeny of the SOX family of developmental transcription factors based on sequence and structural indicators | journal = Developmental Biology | volume = 227 | issue = 2 | pages = 239–55 | date = Nov 2000 | pmid = 11071752 | doi = 10.1006/dbio.2000.9883 }} | |||
*{{cite journal | * {{cite journal | vauthors = 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 = Developmental Cell | volume = 3 | issue = 2 | pages = 167–70 | date = Aug 2002 | pmid = 12194848 | doi = 10.1016/S1534-5807(02)00223-X }} | ||
*{{cite journal | * {{cite journal | vauthors = Denny P, Swift S, Brand N, Dabhade N, Barton P, Ashworth A | title = A conserved family of genes related to the testis determining gene, SRY | journal = Nucleic Acids Research | volume = 20 | issue = 11 | pages = 2887 | date = Jun 1992 | pmid = 1614875 | pmc = 336939 | doi = 10.1093/nar/20.11.2887 }} | ||
*{{cite journal | * {{cite journal | vauthors = Stevanović M, Lovell-Badge R, Collignon J, Goodfellow PN | title = SOX3 is an X-linked gene related to SRY | journal = Human Molecular Genetics | volume = 2 | issue = 12 | pages = 2013–8 | date = Dec 1993 | pmid = 8111369 | doi = 10.1093/hmg/2.12.2013 }} | ||
*{{cite journal | * {{cite journal | vauthors = Collignon J, Sockanathan S, Hacker A, Cohen-Tannoudji M, Norris D, Rastan S, Stevanovic M, Goodfellow PN, Lovell-Badge R | 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 | date = Feb 1996 | pmid = 8625802 | doi = }} | ||
*{{cite journal | * {{cite journal | vauthors = Laumonnier F, Ronce N, Hamel BC, Thomas P, Lespinasse J, Raynaud M, Paringaux C, Van Bokhoven H, Kalscheuer V, Fryns JP, Chelly J, Moraine C, Briault S | title = Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency | journal = American Journal of Human Genetics | volume = 71 | issue = 6 | pages = 1450–5 | date = Dec 2002 | pmid = 12428212 | pmc = 420004 | doi = 10.1086/344661 }} | ||
*{{cite journal | * {{cite journal | vauthors = Aota S, Nakajima N, Sakamoto R, Watanabe S, Ibaraki N, Okazaki K | title = Pax6 autoregulation mediated by direct interaction of Pax6 protein with the head surface ectoderm-specific enhancer of the mouse Pax6 gene | journal = Developmental Biology | volume = 257 | issue = 1 | pages = 1–13 | date = May 2003 | pmid = 12710953 | doi = 10.1016/S0012-1606(03)00058-7 }} | ||
*{{cite journal | * {{cite journal | vauthors = Weiss J, Meeks JJ, Hurley L, Raverot G, Frassetto A, Jameson JL | title = Sox3 is required for gonadal function, but not sex determination, in males and females | journal = Molecular and Cellular Biology | volume = 23 | issue = 22 | pages = 8084–91 | date = Nov 2003 | pmid = 14585968 | pmc = 262333 | doi = 10.1128/MCB.23.22.8084-8091.2003 }} | ||
* {{cite journal | vauthors = Dattani MT | title = Borjeson-Forssman-Lehmann syndrome: a novel pituitary phenotype due to mutation in a novel gene | journal = Journal of Pediatric Endocrinology & Metabolism | volume = 16 | issue = 9 | pages = 1207–9 | date = Dec 2003 | pmid = 14714741 | doi = 10.1515/jpem.2003.16.9.1207 }} | |||
*{{cite journal | * {{cite journal | vauthors = Raverot G, Lejeune H, Kotlar T, Pugeat M, Jameson JL | title = X-linked sex-determining region Y box 3 (SOX3) gene mutations are uncommon in men with idiopathic oligoazoospermic infertility | journal = The Journal of Clinical Endocrinology and Metabolism | volume = 89 | issue = 8 | pages = 4146–8 | date = Aug 2004 | pmid = 15292361 | doi = 10.1210/jc.2004-0191 }} | ||
*{{cite journal | * {{cite journal | vauthors = Solomon NM, Ross SA, Morgan T, Belsky JL, Hol FA, Karnes PS, Hopwood NJ, Myers SE, Tan AS, Warne GL, Forrest SM, Thomas PQ | 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 = Journal of Medical Genetics | volume = 41 | issue = 9 | pages = 669–78 | date = Sep 2004 | pmid = 15342697 | pmc = 1735898 | doi = 10.1136/jmg.2003.016949 }} | ||
*{{cite journal | * {{cite journal | vauthors = 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 = Molecular Biology of the Cell | volume = 16 | issue = 6 | pages = 2660–9 | date = Jun 2005 | pmid = 15788563 | pmc = 1142414 | doi = 10.1091/mbc.E04-12-1062 }} | ||
*{{cite journal | |||
*{{cite journal | |||
*{{cite journal | |||
}} | |||
{{refend}} | {{refend}} | ||
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* {{MeshName|SOX3+protein,+human}} | * {{MeshName|SOX3+protein,+human}} | ||
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{{Transcription factors}} | {{Transcription factors|g4}} | ||
[[Category:Transcription factors]] | [[Category:Transcription factors]] | ||
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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
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 (May 2005). "Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism". American Journal of Human Genetics. 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 (Nov 2003). "Vertebrate neurogenesis is counteracted by Sox1-3 activity". Nature Neuroscience. 6 (11): 1162–8. doi:10.1038/nn1131. PMID 14517545.
- ↑ Barber, TM, Cheetham T, Ball SG (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 (Apr 2000). "Pairing SOX off: with partners in the regulation of embryonic development". Trends in Genetics. 16 (4): 182–7. doi:10.1016/S0168-9525(99)01955-1. PMID 10729834.
- Bowles J, Schepers G, Koopman P (Nov 2000). "Phylogeny of the SOX family of developmental transcription factors based on sequence and structural indicators". Developmental Biology. 227 (2): 239–55. doi:10.1006/dbio.2000.9883. PMID 11071752.
- Schepers GE, Teasdale RD, Koopman P (Aug 2002). "Twenty pairs of sox: extent, homology, and nomenclature of the mouse and human sox transcription factor gene families". Developmental Cell. 3 (2): 167–70. doi:10.1016/S1534-5807(02)00223-X. PMID 12194848.
- Denny P, Swift S, Brand N, Dabhade N, Barton P, Ashworth A (Jun 1992). "A conserved family of genes related to the testis determining gene, SRY". Nucleic Acids Research. 20 (11): 2887. doi:10.1093/nar/20.11.2887. PMC 336939. PMID 1614875.
- Stevanović M, Lovell-Badge R, Collignon J, Goodfellow PN (Dec 1993). "SOX3 is an X-linked gene related to SRY". Human Molecular Genetics. 2 (12): 2013–8. doi:10.1093/hmg/2.12.2013. PMID 8111369.
- Collignon J, Sockanathan S, Hacker A, Cohen-Tannoudji M, Norris D, Rastan S, Stevanovic M, Goodfellow PN, Lovell-Badge R (Feb 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, Thomas P, Lespinasse J, Raynaud M, Paringaux C, Van Bokhoven H, Kalscheuer V, Fryns JP, Chelly J, Moraine C, Briault S (Dec 2002). "Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency". American Journal of Human Genetics. 71 (6): 1450–5. doi:10.1086/344661. PMC 420004. PMID 12428212.
- Aota S, Nakajima N, Sakamoto R, Watanabe S, Ibaraki N, Okazaki K (May 2003). "Pax6 autoregulation mediated by direct interaction of Pax6 protein with the head surface ectoderm-specific enhancer of the mouse Pax6 gene". Developmental Biology. 257 (1): 1–13. doi:10.1016/S0012-1606(03)00058-7. PMID 12710953.
- Weiss J, Meeks JJ, Hurley L, Raverot G, Frassetto A, Jameson JL (Nov 2003). "Sox3 is required for gonadal function, but not sex determination, in males and females". Molecular and Cellular Biology. 23 (22): 8084–91. doi:10.1128/MCB.23.22.8084-8091.2003. PMC 262333. PMID 14585968.
- Dattani MT (Dec 2003). "Borjeson-Forssman-Lehmann syndrome: a novel pituitary phenotype due to mutation in a novel gene". Journal of Pediatric Endocrinology & Metabolism. 16 (9): 1207–9. doi:10.1515/jpem.2003.16.9.1207. PMID 14714741.
- Raverot G, Lejeune H, Kotlar T, Pugeat M, Jameson JL (Aug 2004). "X-linked sex-determining region Y box 3 (SOX3) gene mutations are uncommon in men with idiopathic oligoazoospermic infertility". The Journal of Clinical Endocrinology and Metabolism. 89 (8): 4146–8. doi:10.1210/jc.2004-0191. PMID 15292361.
- Solomon NM, Ross SA, Morgan T, Belsky JL, Hol FA, Karnes PS, Hopwood NJ, Myers SE, Tan AS, Warne GL, Forrest SM, Thomas PQ (Sep 2004). "Array comparative genomic hybridisation analysis of boys with X linked hypopituitarism identifies a 3.9 Mb duplicated critical region at Xq27 containing SOX3". Journal of Medical Genetics. 41 (9): 669–78. doi:10.1136/jmg.2003.016949. PMC 1735898. PMID 15342697.
- Savare J, Bonneaud N, Girard F (Jun 2005). "SUMO represses transcriptional activity of the Drosophila SoxNeuro and human Sox3 central nervous system-specific transcription factors". Molecular Biology of the 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)
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