The world's first wiki where authorship really matters (Nature Genetics, 2008). Due credit and reputation for authors. Imagine a global collaborative knowledge base for original thoughts. Search thousands of articles and collaborate with scientists around the globe.

wikigene or wiki gene protein drug chemical gene disease author authorship tracking collaborative publishing evolutionary knowledge reputation system wiki2.0 global collaboration genes proteins drugs chemicals diseases compound
Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)



Gene Review

SOX10  -  SRY (sex determining region Y)-box 10

Homo sapiens

Synonyms: DOM, PCWH, Transcription factor SOX-10, WS2E, WS4, ...
Welcome! If you are familiar with the subject of this article, you can contribute to this open access knowledge base by deleting incorrect information, restructuring or completely rewriting any text. Read more.

Disease relevance of SOX10


Psychiatry related information on SOX10


High impact information on SOX10

  • Here we report that although all nonsense and frameshift mutations that cause premature termination of translation generate truncated SOX10 proteins with potent dominant-negative activity, the more severe disease phenotype, PCWH, is realized only when the mutant mRNAs escape the nonsense-mediated decay (NMD) pathway [9].
  • The identification of Sox10 as the gene mutated in Dom mice (B.H. et al., manuscript submitted) prompted us to analyse the role of its human homologue SOX10 in neural crest defects [10].
  • Our findings further define the locus heterogeneity of Waardenburg-Hirschsprung syndromes, and point to an essential role of SOX10 in the development of two neural crest-derived human cell lineages [10].
  • Sox9, by contrast, alters the potential of stem cells from neurogenic to gliogenic, whereas Sox10 is essential for terminal oligodendrocyte differentiation [11].
  • Pax3 functions with Sox10 to activate transcription of c-RET, and SOX10 mutations result in Waardenburg-Hirschsprung syndrome [12].

Chemical compound and disease context of SOX10


Biological context of SOX10

  • These observations explain the phenotype in the mild form of Yemenite deaf-blind syndrome caused by specific SOX10 mutations in the HMG box that abrogate DNA binding without disrupting association with Pax3 [16].
  • Analyses revealed that PAX3 and SOX10 interact directly by binding to a proximal region of the MITF promoter containing binding sites for both factors [1].
  • Here we show that SOX10, in synergy with PAX3, strongly activates MITF expression in transfection assays [1].
  • We show that, like SOX10, SOX9 also binds cooperatively as a dimer to response elements in regulatory regions of some target genes such as the cartilage genes Col11a2 and CD-Rap [17].
  • M-MITF promoter responsiveness to cAMP was found to depend upon SOX10, and reciprocally, SOX10 transactivation was dependent upon the CRE [2].

Anatomical context of SOX10


Associations of SOX10 with chemical compounds


Physical interactions of SOX10


Regulatory relationships of SOX10


Other interactions of SOX10

  • In agreement with this finding, SOX10 and EGR2 mutants identified in patients with peripheral myelin defects fail to transactivate the Cx32 promoter [18].
  • SOX10 transactivates the EDNRB promoter through the cis-acting elements, the two CA-rich sequences and the GC box [19].
  • In addition to providing new insights into the molecular mechanisms underlying some of the peripheral myelin defects observed in CMTX disease, these results further extend the spectrum of genes that are regulated by SOX10 [18].
  • Expression of MITF and RET, two genes that play important roles during melanocyte and ENS development, respectively, are controlled by SOX10 [18].
  • Of these, the POU domain factor BRN2 and the SOX family member SOX10 are both highly expressed in unpigmented melanocyte precursors but are down-regulated upon differentiation [28].

Analytical, diagnostic and therapeutic context of SOX10


  1. Interaction among SOX10, PAX3 and MITF, three genes altered in Waardenburg syndrome. Bondurand, N., Pingault, V., Goerich, D.E., Lemort, N., Sock, E., Caignec, C.L., Wegner, M., Goossens, M. Hum. Mol. Genet. (2000) [Pubmed]
  2. A tissue-restricted cAMP transcriptional response: SOX10 modulates alpha-melanocyte-stimulating hormone-triggered expression of microphthalmia-associated transcription factor in melanocytes. Huber, W.E., Price, E.R., Widlund, H.R., Du, J., Davis, I.J., Wegner, M., Fisher, D.E. J. Biol. Chem. (2003) [Pubmed]
  3. Functional Difference of the SOX10 Mutant Proteins Responsible for the Phenotypic Variability in Auditory-Pigmentary Disorders. Yokoyama, S., Takeda, K., Shibahara, S. J. Biochem. (2006) [Pubmed]
  4. Novel nonsense mutation of the endothelin-B receptor gene in a family with Waardenburg-Hirschsprung disease. Syrris, P., Carter, N.D., Patton, M.A. Am. J. Med. Genet. (1999) [Pubmed]
  5. A molecular analysis of the yemenite deaf-blind hypopigmentation syndrome: SOX10 dysfunction causes different neurocristopathies. Bondurand, N., Kuhlbrodt, K., Pingault, V., Enderich, J., Sajus, M., Tommerup, N., Warburg, M., Hennekam, R.C., Read, A.P., Wegner, M., Goossens, M. Hum. Mol. Genet. (1999) [Pubmed]
  6. Expression of the SOX10 gene during human development. Bondurand, N., Kobetz, A., Pingault, V., Lemort, N., Encha-Razavi, F., Couly, G., Goerich, D.E., Wegner, M., Abitbol, M., Goossens, M. FEBS Lett. (1998) [Pubmed]
  7. Discriminative stimulus properties of MDA analogs. Glennon, R.A., Young, R., Rosecrans, J.A., Anderson, G.M. Biol. Psychiatry (1982) [Pubmed]
  8. Behavioral effects of 2,5-dimethoxy-4-methylamphetamine (DOM) in rats and mice. Yamamoto, T., Ueki, S. Eur. J. Pharmacol. (1975) [Pubmed]
  9. Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations. Inoue, K., Khajavi, M., Ohyama, T., Hirabayashi, S., Wilson, J., Reggin, J.D., Mancias, P., Butler, I.J., Wilkinson, M.F., Wegner, M., Lupski, J.R. Nat. Genet. (2004) [Pubmed]
  10. SOX10 mutations in patients with Waardenburg-Hirschsprung disease. Pingault, V., Bondurand, N., Kuhlbrodt, K., Goerich, D.E., Préhu, M.O., Puliti, A., Herbarth, B., Hermans-Borgmeyer, I., Legius, E., Matthijs, G., Amiel, J., Lyonnet, S., Ceccherini, I., Romeo, G., Smith, J.C., Read, A.P., Wegner, M., Goossens, M. Nat. Genet. (1998) [Pubmed]
  11. From stem cells to neurons and glia: a Soxist's view of neural development. Wegner, M., Stolt, C.C. Trends Neurosci. (2005) [Pubmed]
  12. Pax3 is required for enteric ganglia formation and functions with Sox10 to modulate expression of c-ret. Lang, D., Chen, F., Milewski, R., Li, J., Lu, M.M., Epstein, J.A. J. Clin. Invest. (2000) [Pubmed]
  13. DOM-stimulus generalization to LSD and other hallucinogenic indolealkylamines. Glennon, R.A., Young, R., Jacyno, J.M., Slusher, M., Rosecrans, J.A. Eur. J. Pharmacol. (1983) [Pubmed]
  14. alpha-Ethyltryptamine (alpha-ET) as a discriminative stimulus in rats. Glennon, R.A., Bondareva, T., Young, R. Pharmacol. Biochem. Behav. (2006) [Pubmed]
  15. Domoic acid-induced neurodegeneration resulting in memory loss is mediated by Ca2+ overload and inhibition of Ca2+ + calmodulin-stimulated adenylate cyclase in rat brain (review). Nijjar, M.S., Nijjar, S.S. Int. J. Mol. Med. (2000) [Pubmed]
  16. Sox10 and Pax3 physically interact to mediate activation of a conserved c-RET enhancer. Lang, D., Epstein, J.A. Hum. Mol. Genet. (2003) [Pubmed]
  17. Loss of DNA-dependent dimerization of the transcription factor SOX9 as a cause for campomelic dysplasia. Sock, E., Pagon, R.A., Keymolen, K., Lissens, W., Wegner, M., Scherer, G. Hum. Mol. Genet. (2003) [Pubmed]
  18. Human Connexin 32, a gap junction protein altered in the X-linked form of Charcot-Marie-Tooth disease, is directly regulated by the transcription factor SOX10. Bondurand, N., Girard, M., Pingault, V., Lemort, N., Dubourg, O., Goossens, M. Hum. Mol. Genet. (2001) [Pubmed]
  19. SOX10, in combination with Sp1, regulates the endothelin receptor type B gene in human melanocyte lineage cells. Yokoyama, S., Takeda, K., Shibahara, S. FEBS J. (2006) [Pubmed]
  20. Sox10 is an active nucleocytoplasmic shuttle protein, and shuttling is crucial for Sox10-mediated transactivation. Rehberg, S., Lischka, P., Glaser, G., Stamminger, T., Wegner, M., Rosorius, O. Mol. Cell. Biol. (2002) [Pubmed]
  21. Monomethylthio analogues of 1-(2,4,5-trimethoxyphenyl)-2-aminopropane. Jacob, P., Anderson, G., Meshul, C.K., Shulgin, A.T., Castagnoli, N. J. Med. Chem. (1977) [Pubmed]
  22. The effects of 2,5-dimethoxy-4-methylamphetamine (DOM), 2,5-dimethoxy-4-ethylamphetamine (DOET), d-amphetamine, and cocaine in rats trained with mescaline as a discriminative stimulus. Winter, J.C. Psychopharmacologia. (1975) [Pubmed]
  23. A characteristic effect of hallucinogens on investigatory responding in rats. Geyer, M.A., Light, R.K., Rose, G.J., Petersen, L.R., Horwitt, D.D., Adams, L.M., Hawkins, R.L. Psychopharmacology (Berl.) (1979) [Pubmed]
  24. Analysis of SOX10 mutations identified in Waardenburg-Hirschsprung patients: Differential effects on target gene regulation. Chan, K.K., Wong, C.K., Lui, V.C., Tam, P.K., Sham, M.H. J. Cell. Biochem. (2003) [Pubmed]
  25. Cell type-specific activation of neuronal nicotinic acetylcholine receptor subunit genes by Sox10. Liu, Q., Melnikova, I.N., Hu, M., Gardner, P.D. J. Neurosci. (1999) [Pubmed]
  26. Maintenance of mammalian enteric nervous system progenitors by SOX10 and endothelin 3 signalling. Bondurand, N., Natarajan, D., Barlow, A., Thapar, N., Pachnis, V. Development (2006) [Pubmed]
  27. Paired overexpression of ErbB3 and Sox10 in pilocytic astrocytoma. Addo-Yobo, S.O., Straessle, J., Anwar, A., Donson, A.M., Kleinschmidt-Demasters, B.K., Foreman, N.K. J. Neuropathol. Exp. Neurol. (2006) [Pubmed]
  28. Co-expression of SOX9 and SOX10 during melanocytic differentiation in vitro. Cook, A.L., Smith, A.G., Smit, D.J., Leonard, J.H., Sturm, R.A. Exp. Cell Res. (2005) [Pubmed]
  29. A mouse model of Waardenburg syndrome type 4 with a new spontaneous mutation of the endothelin-B receptor gene. Matsushima, Y., Shinkai, Y., Kobayashi, Y., Sakamoto, M., Kunieda, T., Tachibana, M. Mamm. Genome (2002) [Pubmed]
  30. Oligodendroglial-specific transcriptional factor SOX10 is ubiquitously expressed in human gliomas. Bannykh, S.I., Stolt, C.C., Kim, J., Perry, A., Wegner, M. J. Neurooncol. (2006) [Pubmed]
  31. The Waardenburg syndrome type 4 gene, SOX10, is a novel tumor-associated antigen identified in a patient with a dramatic response to immunotherapy. Khong, H.T., Rosenberg, S.A. Cancer Res. (2002) [Pubmed]
WikiGenes - Universities