Dermatologic surgery : official publication for American Society for Dermatologic Surgery [et al.] · 1997
The molecular basis of xeroderma pigmentosum.
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Copeland N E, Hanke C W, Michalak J A
Аннотация
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.
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.