SRY-box transcription factor 10
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A SOX10 gene belongs to a family of genes that plays a critical role in the formation of tissues and organs during embryonic development. The SOX gene family also maintains the normal function of certain cells after birth. To carry out these roles, proteins made by genes in the SOX family bind to specific areas of DNA. By attaching to critical regions near genes, SOX proteins help control the activity of those genes. SOX proteins are called transcription factors on the basis of this action.
Normal function
A SOX10 gene belongs to a family of genes that plays a critical role in the formation of tissues and organs during embryonic development. The SOX gene family also maintains the normal function of certain cells after birth. To carry out these roles, proteins made by genes in the SOX family bind to specific areas of DNA. By attaching to critical regions near genes, SOX proteins help control the activity of those genes. SOX proteins are called transcription factors on the basis of this action.
During embryonic development, the SOX10 gene is active in cells called neural crest cells. These cells migrate from the developing spinal cord to specific regions in the embryo, where they give rise to many different types of cells. The protein made by the SOX10 gene directs the activity of other genes (such as MITF) that signal neural crest cells to become more specific cell types. In particular, the SOX10 protein is essential for the formation of nerves in the intestine (enteric nerves) and for the production of specialized cells called melanocytes. Melanocytes produce melanin, a pigment that contributes to skin, hair, and eye colour. Melanin is also involved in the normal function of the inner ear.
Conditions referring to this gene or chromosome
Other names
DOM
dominant megacolon, mouse, human homolog of
SOX10_HUMAN
SRY (sex determining region Y)-box 10
SRY box 10
SRY-related HMG-box gene 10
transcription factor SOX-10
WS4
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Leitura adicional e referências
- SRY-box transcription factor 10; MedlinePlus, National Library of Medicine.
- Bondurand N, Dastot-Le Moal F, Stanchina L, Collot N, Baral V, Marlin S, Attie-Bitach T, Giurgea I, Skopinski L, Reardon W, Toutain A, Sarda P, Echaieb A, Lackmy-Port-Lis M, Touraine R, Amiel J, Goossens M, Pingault V. Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4. Am J Hum Genet. 2007 Dec;81(6):1169-85. doi: 10.1086/522090. Epub 2007 Oct 22.
- Chaoui A, Watanabe Y, Touraine R, Baral V, Goossens M, Pingault V, Bondurand N. Identification and functional analysis of SOX10 missense mutations in different subtypes of Waardenburg syndrome. Hum Mutat. 2011 Dec;32(12):1436-49. doi: 10.1002/humu.21583. Epub 2011 Sep 19.
- Iso M, Fukami M, Horikawa R, Azuma N, Kawashiro N, Ogata T. SOX10 mutation in Waardenburg syndrome type II. Am J Med Genet A. 2008 Aug 15;146A(16):2162-3. doi: 10.1002/ajmg.a.32403. No abstract available.
- Mollaaghababa R, Pavan WJ. The importance of having your SOX on: role of SOX10 in the development of neural crest-derived melanocytes and glia. Oncogene. 2003 May 19;22(20):3024-34. doi: 10.1038/sj.onc.1206442.
- Pingault V, Zerad L, Bertani-Torres W, Bondurand N. SOX10: 20 years of phenotypic plurality and current understanding of its developmental function. J Med Genet. 2022 Feb;59(2):105-114. doi: 10.1136/jmedgenet-2021-108105. Epub 2021 Oct 19.
- Sham MH, Lui VC, Chen BL, Fu M, Tam PK. Novel mutations of SOX10 suggest a dominant negative role in Waardenburg-Shah syndrome. J Med Genet. 2001 Sep;38(9):E30. doi: 10.1136/jmg.38.9.e30. No abstract available.
- Zhang H, Chen H, Luo H, An J, Sun L, Mei L, He C, Jiang L, Jiang W, Xia K, Li JD, Feng Y. Functional analysis of Waardenburg syndrome-associated PAX3 and SOX10 mutations: report of a dominant-negative SOX10 mutation in Waardenburg syndrome type II. Hum Genet. 2012 Mar;131(3):491-503. doi: 10.1007/s00439-011-1098-2. Epub 2011 Oct 1.
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