SOX10

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, the proteins made by genes in the SOX family bind to specific areas on DNA and regulate the activity of other genes. On the basis of this action, SOX proteins are called transcription factors.

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 and 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 such as nerves in the large intestine (enteric nerves) and melanocytes. Melanocytes produce melanin (a pigment that contributes to skin, hair, and eye color) and play an essential role in the normal function of the inner ear.

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. 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 an abnormally small SOX10 protein or prevent the gene from making any protein. An abnormal or missing SOX10 protein can't 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 type IV Waardenburg syndrome, the SOX10 mutations responsible for PCWH lead to an abnormally small protein that is unable to direct the activity of other genes.

22q13.1

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

See How do geneticists indicate the location of a gene? in the Handbook.

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

• PubMed - Recent literature
• OMIM - Genetic disorder catalog
• Research Resources - Tools for researchers (3 links)

See How are genetic conditions and genes named? in the Handbook.

The Handbook provides basic information about genetics in clear language.

• What is DNA?
• What is a gene?
• How does a gene make a protein?
• How can gene mutations cause disorders?

These links provide additional genetics resources that may be useful.

• Genetics education
• Human Genome Project
• Resources for Genetic Researchers

constipation ; DNA ; embryo ; enteric ; gene ; homologs ; intestine ; leukodystrophy ; melanin ; melanocytes ; mutation ; nervous system ; neural crest cell ; neuropathy ; pigment ; protein ; sign ; symptom ; transcription ; transcription factor

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.