DNA repair diseases for UV-induced DNA damage and their molecular pathogenesis

Abstract

Pyrimidine dimers are the major DNA damage induced by solar UV light, and are repaired by nucleotide excision repair (NER) in human cells. Defects in NER are associated with 8 types of autosomal recessive diseases including xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy, which have diverse clinical features in addition to skin hypersensitivity to sun exposure. One of other UV-induced DNA damage is DNA single strand break (SSB). Aprataxin which plays an important role in SSB repair is a protein causative for autosomal recessive ataxia (EAOH/AOA1). Interestingly, impaired nuclear import of aprataxin was discovered in both triple A syndrome and cerebellar ataxia type 14. This WS focuses on understanding the molecular pathogenesis of DNA repair diseases with diverse clinical symptoms.