XPG: Its Products and Biological Roles

Overview

Journal Adv Exp Med Biol

Specialties Biology
General Medicine

Date 2009 Feb 3

PMID 19181113

Citations 36

Authors

Orlando D Scharer

Affiliations

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Abstract

Xeroderma pigmetosum patients of the complementation group G are rare. One group of XP-G patients displays a rather mild and typical XP phenotype. Mutations in these patients interfere with the function of XPG in the nucleotide excision repair, where it has a structural role in the assembly of the preincision complex and a catalytic role in making the incision 3' to the damaged site in DNA. Another set of XP-G patient is much more severely affected, displaying combined symptoms of xeroderma pigmentosum and Cockayne syndrome, referred to as XP/CS complex. Although the molecular basis leading to the XP/CS complex has not yet been fully established, current evidence suggests that these patients suffer from a mild defect in transcription in addition to a repair defect. Here, the history of how the XPG gene was discovered, the biochemical properties of the XPG protein and the molecular defects found in XP-G patients and mouse models are reviewed.

Citing Articles

Transcription-coupled repair - mechanisms of action, regulation, and associated human disorders.

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XPG in the Nucleotide Excision Repair and Beyond: a study on the different functional aspects of XPG and its associated diseases.

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