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Genetics Home Reference: your guide to understanding genetic conditions
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SOX10

Reviewed April 2006

What is the official name of the SOX10 gene?

The official name of this gene is “SRY (sex determining region Y)-box 10.”

SOX10 is the gene's official symbol. The SOX10 gene is also known by other names, listed below.

What is the normal function of the SOX10 gene?

The 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 large intestine (enteric nerves) and melanocytes. Melanocytes are cells that produce melanin, a pigment that contributes to skin, hair, and eye color. Melanin is also involved in the normal function of the inner ear.

Does the SOX10 gene share characteristics with other genes?

The SOX10 gene belongs to a family of genes called SOX (SRY (sex determining region Y)-boxes).

A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.

How are changes in the SOX10 gene related to health conditions?

Waardenburg syndrome - caused by mutations in the SOX10 gene

At least 15 mutations in the SOX10 gene have been identified in people with Waardenburg syndrome, type IV (also known as Waardenburg-Shah syndrome). This type of Waardenburg syndrome is characterized by changes in skin, hair, and eye coloring; hearing loss; and an intestinal disorder called Hirschsprung disease that causes severe constipation or intestinal blockage. Most SOX10 mutations lead to the production of an abnormally small version of the SOX10 protein or prevent the gene from making any protein. An abnormal or missing SOX10 protein cannot control genes that signal neural crest cells to become more specific cell types. As a result, enteric nerves and melanocytes do not form normally during embryonic development. Missing enteric nerves in certain parts of the intestine cause the signs and symptoms of Hirschsprung disease. A lack of melanocytes affects the coloring of skin, hair, and eyes and causes the hearing loss characteristic of Waardenburg syndrome.

Researchers have found that mutations in the SOX10 gene also cause a similar disorder known as PCWH (peripheral demyelinating neuropathy, central demyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease). This rare condition is a variant of Waardenburg syndrome, type IV that also affects other parts of the nervous system. Like mutations that cause Waardenburg syndrome, type IV, the mutations responsible for PCWH lead to the production of an abnormally small version of the SOX10 protein that is unable to direct the activity of other genes.

Where is the SOX10 gene located?

Cytogenetic Location: 22q13.1

Molecular Location on chromosome 22: base pairs 37,972,311 to 37,984,531

The SOX10 gene is located on the long (q) arm of chromosome 22 at position 13.1.

The SOX10 gene is located on the long (q) arm of chromosome 22 at position 13.1.

More precisely, the SOX10 gene is located from base pair 37,972,311 to base pair 37,984,531 on chromosome 22.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about SOX10?

You and your healthcare professional may find the following resources about SOX10 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the SOX10 gene or gene products?

  • DOM
  • dominant megacolon, mouse, human homolog of
  • SOX10_HUMAN
  • SRY-related HMG-box gene 10
  • Transcription factor SOX-10
  • WS4

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding SOX10?

cell ; constipation ; DNA ; embryo ; embryonic ; enteric ; gene ; intestine ; leukodystrophy ; melanin ; melanocytes ; nervous system ; neural crest ; neuropathy ; peripheral ; pigment ; protein ; syndrome ; transcription ; transcription factor

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Bondurand N, Pingault V, Goerich DE, Lemort N, Sock E, Le Caignec C, Wegner M, Goossens M. Interaction among SOX10, PAX3 and MITF, three genes altered in Waardenburg syndrome. Hum Mol Genet. 2000 Aug 12;9(13):1907-17. (http://www.ncbi.nlm.nih.gov/pubmed/10942418?dopt=Abstract)
  • Cook AL, Smith AG, Smit DJ, Leonard JH, Sturm RA. Co-expression of SOX9 and SOX10 during melanocytic differentiation in vitro. Exp Cell Res. 2005 Aug 1;308(1):222-35. (http://www.ncbi.nlm.nih.gov/pubmed/15896776?dopt=Abstract)
  • Inoue K, Khajavi M, Ohyama T, Hirabayashi S, Wilson J, Reggin JD, Mancias P, Butler IJ, Wilkinson MF, Wegner M, Lupski JR. Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations. Nat Genet. 2004 Apr;36(4):361-9. Epub 2004 Mar 7. (http://www.ncbi.nlm.nih.gov/pubmed/15004559?dopt=Abstract)
  • Khong HT, Rosenberg SA. The Waardenburg syndrome type 4 gene, SOX10, is a novel tumor-associated antigen identified in a patient with a dramatic response to immunotherapy. Cancer Res. 2002 Jun 1;62(11):3020-3. (http://www.ncbi.nlm.nih.gov/pubmed/12036907?dopt=Abstract)
  • 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. Review. (http://www.ncbi.nlm.nih.gov/pubmed/12789277?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/6663)
  • Pingault V, Girard M, Bondurand N, Dorkins H, Van Maldergem L, Mowat D, Shimotake T, Verma I, Baumann C, Goossens M. SOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex physiopathological mechanism. Hum Genet. 2002 Aug;111(2):198-206. Epub 2002 Jul 6. (http://www.ncbi.nlm.nih.gov/pubmed/12189494?dopt=Abstract)
  • Potterf SB, Furumura M, Dunn KJ, Arnheiter H, Pavan WJ. Transcription factor hierarchy in Waardenburg syndrome: regulation of MITF expression by SOX10 and PAX3. Hum Genet. 2000 Jul;107(1):1-6. (http://www.ncbi.nlm.nih.gov/pubmed/10982026?dopt=Abstract)
  • 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. (http://www.ncbi.nlm.nih.gov/pubmed/11546831?dopt=Abstract)
  • Verastegui C, Bille K, Ortonne JP, Ballotti R. Regulation of the microphthalmia-associated transcription factor gene by the Waardenburg syndrome type 4 gene, SOX10. J Biol Chem. 2000 Oct 6;275(40):30757-60. (http://www.ncbi.nlm.nih.gov/pubmed/10938265?dopt=Abstract)
  • Wegner M. Secrets to a healthy Sox life: lessons for melanocytes. Pigment Cell Res. 2005 Apr;18(2):74-85. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15760336?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: April 2006
Published: November 17, 2014