POLH : DNA polymerase eta

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Description

The POLH gene encodes DNA polymerase η (Pol η), a specialized DNA polymerase crucial for bypassing DNA lesions caused by ultraviolet (UV) radiation. Pol η is particularly efficient in replicating across thymine dimers, a common UV-induced DNA damage. This bypass activity is essential for preventing mutations and maintaining genomic integrity.

Associated Diseases

• Xeroderma pigmentosum variant (XP-V): A rare autosomal recessive disorder characterized by extreme sensitivity to sunlight, increased risk of skin cancer, and premature aging.
• Cockayne syndrome (CS): A rare genetic disorder affecting the development and functioning of the nervous system and other tissues. It is often associated with UV sensitivity and neurodevelopmental problems.
• Cerebro-oculo-facio-skeletal syndrome (COFS): A rare genetic syndrome characterized by a wide range of developmental abnormalities affecting the brain, eyes, face, and skeletal system. Some forms of COFS involve mutations in the POLH gene.

Did you know?

The discovery of Pol η and its role in DNA repair led to the Nobel Prize in Chemistry in 2015 for Aziz Sancar, Paul Modrich, and Tomas Lindahl.