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SRY (sex determining region Y)-box 10
Symbols SOX10; DOM; MGC15649; WS4
External IDs OMIM602229 MGI98358 HomoloGene5055 GeneCards: SOX10 Gene
RNA expression pattern
PBB GE SOX10 209842 at tn.png
PBB GE SOX10 209843 s at tn.png
More reference expression data
Species Human Mouse
Entrez 6663 20665
Ensembl ENSG00000100146 ENSMUSG00000033006
UniProt P56693 Q80V12
RefSeq (mRNA) NM_006941 XM_001001494
RefSeq (protein) NP_008872 XP_001001494
Location (UCSC) Chr 22:
36.7 - 36.71 Mb
Chr 15:
78.98 - 78.99 Mb
PubMed search [1] [2]

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


SOX10 has been shown to interact with PAX3.[6][7]


  1. ^ 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 (Feb 1998). "SOX10 mutations in patients with Waardenburg-Hirschsprung disease". Nat Genet 18 (2): 171–3. doi:10.1038/ng0298-171. PMID 9462749.  
  2. ^ Bondurand N, Kuhlbrodt K, Pingault V, Enderich J, Sajus M, Tommerup N, Warburg M, Hennekam RC, Read AP, Wegner M, Goossens M (Jan 2000). "A molecular analysis of the yemenite deaf-blind hypopigmentation syndrome: SOX10 dysfunction causes different neurocristopathies". Hum Mol Genet 8 (9): 1785–9. PMID 10441344.  
  3. ^ Huber WE, Price ER, Widlund HR, Du J, Davis IJ, Wegner M, Fisher DE (Nov 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. ^ a b "Entrez Gene: SOX10 SRY (sex determining region Y)-box 10".  
  5. ^ 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.  
  6. ^ Lang, Deborah; Epstein Jonathan A (Apr. 2003). "Sox10 and Pax3 physically interact to mediate activation of a conserved c-RET enhancer". Hum. Mol. Genet. (England) 12 (8): 937–45. ISSN 0964-6906. PMID 12668617.  
  7. ^ Bondurand, N; Pingault V, Goerich D E, Lemort N, Sock E, Le Caignec C, Wegner M, Goossens M (Aug. 2000). "Interaction among SOX10, PAX3 and MITF, three genes altered in Waardenburg syndrome". Hum. Mol. Genet. (ENGLAND) 9 (13): 1907–17. 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. 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. 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. 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. 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

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



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