POLH : DNA polymerase eta
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.
