BIOL 2301 Study Guide - Radiation Effects Research Foundation, Founder Effect, Xeroderma Pigmentosum
Document Summary
Xeroderma pigmentosum (xp) is a genetic disorder regarding dna repair (1). It causes a deficiency in the body"s ability to remove damage caused by ultraviolet light (1). Therefore, patients have a much higher risk of developing skin cancers. Yuko hirai et al. in heterozygous individuals bearing a founder mutation in the xpa. Dna repair gene comprise nearly 1% of the japanese population, xpa contributes to the development of xp. It is one of eight proteins that work together to repair uv- induced dna damage (1). During the process of nucleotide excision repair of uv-induced dna damage, the. Xpa protein is specifically responsible for damage verification, while xpb is recognized as a 3"-5" helicase (1). Xpc and xpe are responsible for binding damage, while xpd is a 5"-3" helicase (1). Xpf and xpg are a 5" and 3" nuclease, respectively (1). There is one variant form of xp known (1).
