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Title: Sox10  
Author: World Heritage Encyclopedia
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Subject: PAX7, Atrichia with papular lesions, Yemenite deaf-blind hypopigmentation syndrome, Rapp–Hodgkin syndrome, Tooth and nail syndrome
Collection: Transcription Factors
Publisher: World Heritage Encyclopedia


SRY (sex determining region Y)-box 10
Symbols  ; DOM; PCWH; WS2E; WS4; WS4C
External IDs GeneCards:
RNA expression pattern
Species Human Mouse
RefSeq (mRNA)
RefSeq (protein)
Location (UCSC)
PubMed search

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]


  • Clinical significance 1
  • See also 2
  • Interactions 3
  • References 4
  • Further reading 5
  • External links 6

Clinical significance

Mutations in SOX10 are associated to uveal melanoma .[6]

See also


SOX10 has been shown to interact with PAX3.[7][8]


  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 (February 1998). "SOX10 mutations in patients with Waardenburg-Hirschsprung disease". Nat Genet 18 (2): 171–3.  
  2. ^ 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.  
  3. ^ 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.  
  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.  
  6. ^ Das, D; Kaur, I; Ali, M. J.; Biswas, N. K.; Das, S; Kumar, S; Honavar, S. G.; Maitra, A; Chakrabarti, S; Majumder, P. P. (2014). "Exome Sequencing Reveals the Likely Involvement of SOX10 in Uveal Melanoma". Optometry and Vision Science: 1.  
  7. ^ 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.  
  8. ^ 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.  

Further reading

  • Jacobs JM, Wilson J (1992). "An unusual demyelinating neuropathy in a patient with Waardenburg's syndrome". Acta Neuropathol. 83 (6): 670–4.  
  • 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.  
  • 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.  
  • 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.  
  • 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.  
  • Dunham I, Shimizu N, Roe BA, et al. (1999). "The DNA sequence of human chromosome 22". Nature 402 (6761): 489–95.  
  • 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.  
  • 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.  
  • 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.  
  • 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.  
  • 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.  
  • 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.  
  • 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.  
  • 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.  
  • 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.  
  • 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.  
  • 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.  

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