SOX10
From Wikipedia, the free encyclopedia
Transcription factor SOX-10 is a protein that in humans is encoded by the SOX10 gene.[1][2][3][4]
This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional activator after forming a protein complex with other proteins. This protein acts as a nucleocytoplasmic shuttle protein and is important for neural crest and peripheral nervous system development. Mutations in this gene are associated with Waardenburg-Shah and Waardenburg-Hirschsprung disease.[4]
In melanocytic cells there is evidence that SOX10 gene expression may be regulated by MITF.[5]
See also
- SOX genes
Interactions
SOX10 has been shown to interact with PAX3.[6][7]
References
- ↑ Pingault V, Bondurand N, Kuhlbrodt K, Goerich DE, Prehu MO, Puliti A, Herbarth B, Hermans-Borgmeyer I, Legius E, Matthijs G, Amiel J, Lyonnet S, Ceccherini I, Romeo G, Smith JC, Read AP, Wegner M, Goossens M (February 1998). "SOX10 mutations in patients with Waardenburg-Hirschsprung disease". Nat Genet 18 (2): 171–3. doi:10.1038/ng0298-171. PMID 9462749.
- ↑ Bondurand N, Kuhlbrodt K, Pingault V, Enderich J, Sajus M, Tommerup N, Warburg M, Hennekam RC, Read AP, Wegner M, Goossens M (January 2000). "A molecular analysis of the yemenite deaf-blind hypopigmentation syndrome: SOX10 dysfunction causes different neurocristopathies". Hum Mol Genet 8 (9): 1785–9. doi:10.1093/hmg/8.9.1785. PMID 10441344.
- ↑ Huber WE, Price ER, Widlund HR, Du J, Davis IJ, Wegner M, Fisher DE (November 2003). "A tissue-restricted cAMP transcriptional response: SOX10 modulates alpha-melanocyte-stimulating hormone-triggered expression of microphthalmia-associated transcription factor in melanocytes". J Biol Chem 278 (46): 45224–30. doi:10.1074/jbc.M309036200. PMID 12944398.
- ↑ 4.0 4.1 "Entrez Gene: SOX10 SRY (sex determining region Y)-box 10".
- ↑ Hoek KS, Schlegel NC, Eichhoff OM, et al. (2008). "Novel MITF targets identified using a two-step DNA microarray strategy". Pigment Cell Melanoma Res. 21 (6): 665–76. doi:10.1111/j.1755-148X.2008.00505.x. PMID 19067971.
- ↑ Lang, Deborah; Epstein Jonathan A (April 2003). "Sox10 and Pax3 physically interact to mediate activation of a conserved c-RET enhancer". Hum. Mol. Genet. (England) 12 (8): 937–45. doi:10.1093/hmg/ddg107. ISSN 0964-6906. PMID 12668617.
- ↑ Bondurand, N; Pingault V, Goerich D E, Lemort N, Sock E, Le Caignec C, Wegner M, Goossens M (August 2000). "Interaction among SOX10, PAX3 and MITF, three genes altered in Waardenburg syndrome". Hum. Mol. Genet. (ENGLAND) 9 (13): 1907–17. doi:10.1093/hmg/9.13.1907. ISSN 0964-6906. PMID 10942418.
Further reading
- Jacobs JM, Wilson J (1992). "An unusual demyelinating neuropathy in a patient with Waardenburg's syndrome". Acta Neuropathol. 83 (6): 670–4. doi:10.1007/BF00299420. PMID 1636383.
- Southard-Smith EM, Kos L, Pavan WJ (1998). "Sox10 mutation disrupts neural crest development in Dom Hirschsprung mouse model". Nat. Genet. 18 (1): 60–4. doi:10.1038/ng0198-60. PMID 9425902.
- Kuhlbrodt K, Schmidt C, Sock E, et al. (1998). "Functional analysis of Sox10 mutations found in human Waardenburg-Hirschsprung patients". J. Biol. Chem. 273 (36): 23033–8. doi:10.1074/jbc.273.36.23033. PMID 9722528.
- Pusch C, Hustert E, Pfeifer D, et al. (1998). "The SOX10/Sox10 gene from human and mouse: sequence, expression, and transactivation by the encoded HMG domain transcription factor". Hum. Genet. 103 (2): 115–23. doi:10.1007/s004390050793. PMID 9760192.
- Inoue K, Tanabe Y, Lupski JR (1999). "Myelin deficiencies in both the central and the peripheral nervous systems associated with a SOX10 mutation". Ann. Neurol. 46 (3): 313–8. doi:10.1002/1531-8249(199909)46:3<313::AID-ANA6>3.0.CO;2-7. PMID 10482261.
- Dunham I, Shimizu N, Roe BA, et al. (1999). "The DNA sequence of human chromosome 22". Nature 402 (6761): 489–95. doi:10.1038/990031. PMID 10591208.
- Touraine RL, Attié-Bitach T, Manceau E, et al. (2000). "Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain". Am. J. Hum. Genet. 66 (5): 1496–503. doi:10.1086/302895. PMC 1378013. PMID 10762540.
- Bondurand N, Pingault V, Goerich DE, et al. (2000). "Interaction among SOX10, PAX3 and MITF, three genes altered in Waardenburg syndrome". Hum. Mol. Genet. 9 (13): 1907–17. doi:10.1093/hmg/9.13.1907. PMID 10942418.
- Smit DJ, Smith AG, Parsons PG, et al. (2000). "Domains of Brn-2 that mediate homodimerization and interaction with general and melanocytic transcription factors". Eur. J. Biochem. 267 (21): 6413–22. doi:10.1046/j.1432-1327.2000.01737.x. PMID 11029584.
- Sham MH, Lui VC, Chen BL, et al. (2002). "Novel mutations of SOX10 suggest a dominant negative role in Waardenburg-Shah syndrome". J. Med. Genet. 38 (9): E30. doi:10.1136/jmg.38.9.e30. PMC 1734934. PMID 11546831.
- Rehberg S, Lischka P, Glaser G, et al. (2002). "Sox10 Is an Active Nucleocytoplasmic Shuttle Protein, and Shuttling Is Crucial for Sox10-Mediated Transactivation". Mol. Cell. Biol. 22 (16): 5826–34. doi:10.1128/MCB.22.16.5826-5834.2002. PMC 133963. PMID 12138193.
- Pingault V, Girard M, Bondurand N, et al. (2002). "SOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex physiopathological mechanism". Hum. Genet. 111 (2): 198–206. doi:10.1007/s00439-002-0765-8. PMID 12189494.
- 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.
- Lang D, Epstein JA (2004). "Sox10 and Pax3 physically interact to mediate activation of a conserved c-RET enhancer". Hum. Mol. Genet. 12 (8): 937–45. doi:10.1093/hmg/ddg107. PMID 12668617.
- Shimotake T, Tomiyama H, Aoi S, Iwai N (2003). "Discrepancy between macroscopic and microscopic transitional zones in Hirschsprung's disease with reference to the type of RET/GDNF/SOX10 gene mutation". J. Pediatr. Surg. 38 (5): 698–701. doi:10.1016/jpsu.2003.50186. PMID 12720173.
- Chan KK, Wong CK, Lui VC, et al. (2004). "Analysis of SOX10 mutations identified in Waardenburg-Hirschsprung patients: Differential effects on target gene regulation". J. Cell. Biochem. 90 (3): 573–85. doi:10.1002/jcb.10656. PMID 14523991.
- Inoue K, Khajavi M, Ohyama T, et al. (2004). "Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations". Nat. Genet. 36 (4): 361–9. doi:10.1038/ng1322. PMID 15004559.
External links
- SOX10 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.
| |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
This article is issued from Wikipedia. The text is available under the Creative Commons Attribution/Share Alike; additional terms may apply for the media files.