SOX gene family

SOX gene family is a group of genes that play a crucial role in the regulation of embryonic development and in the determination of the cell fate. The name 'SOX' is derived from the high-mobility group (HMG) box domain that these genes possess, which is similar to that of the sex-determining region Y (SRY) gene.

Function

SOX genes are involved in the regulation of a number of processes in the body. They are known to control cell differentiation by regulating the expression of other genes during development. Some SOX genes are also involved in the maintenance of stem cells.

Structure

SOX genes encode a group of transcription factors that possess a unique HMG box domain. This domain is responsible for the DNA-binding ability of these proteins. The HMG box domain is a sequence of approximately 80 amino acids that can bind to the minor groove of DNA, causing it to bend and allowing other proteins to interact with the DNA.

Classification

The SOX gene family is divided into 10 groups, from SOX A to SOX J, based on the sequence similarity and the organization of the HMG box domain. Each group contains several genes. For example, the SOX B group includes SOX1, SOX2, and SOX3.

Clinical significance

Mutations in SOX genes have been associated with a number of diseases. For instance, mutations in SOX9 can lead to campomelic dysplasia, a severe skeletal malformation syndrome. Similarly, mutations in SOX10 can cause Waardenburg syndrome, a group of genetic conditions that can lead to hearing loss and changes in coloring (pigmentation) of the hair, skin, and eyes.

See also

• Gene
• Transcription factor
• High-mobility group

References

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