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The molecular basis of xeroderma pigmentosum
N E Copeland1, C W Hanke, J A Michalak
1Department of Dermatology, Indiana University, Indianapolis, USA.
Background:
Xeroderma pigmentosum is an extremely rare, autosomal recessive disease characterized by a more than 1000-fold increase in nonmelanoma skin cancer. Individuals with this disease can be divided into eight complementation groups: A-G and V for variant. Each one represents a different genetic defect in DNA repair.
Objective:
To review the molecular basis of xeroderma pigmentosum.
Results:
Deficiencies in various gene products in the nucleotide excision repair pathway cause xeroderma pigmentosum in complementation groups A-G. The molecular basis of the variant group remains to be elucidated.
Conclusions:
Research into the genetic defects underlying xeroderma pigmentosum have led to an increased understanding of nucleotide excision repair.