SOX3

SOX3
Identifiers
AliasesSOX3, GHDX, MRGH, PHP, PHPX, SOXB, SRY-box 3
External IDsMGI: 98365 HomoloGene: 4118 GeneCards: SOX3
Gene location (Human)
Chr.X chromosome (human)[1]
BandXq27.1Start140,502,985 bp[1]
End140,505,116 bp[1]
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

6658

20675

Ensembl

ENSG00000134595

ENSMUSG00000045179

UniProt

P41225

P53784

RefSeq (mRNA)

NM_005634

NM_009237

RefSeq (protein)

NP_005625

n/a

Location (UCSC)Chr X: 140.5 – 140.51 MbChr X: 60.89 – 60.89 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Transcription factor SOX-3 is a protein that in humans is encoded by the SOX3 gene.[5][6][5]

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.[7] 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. [6] [8]

See also

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000134595 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000045179 - Ensembl, May 2017
  3. ↑ "Human PubMed Reference:".
  4. ↑ "Mouse PubMed Reference:".
  5. 1 2 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.
  6. 1 2 "Entrez Gene: SOX3 SRY (sex determining region Y)-box 3".
  7. ↑ 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.
  8. ↑ 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.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.