The molecular basis of xeroderma pigmentosum.

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.