Molecular mechanisms of xeroderma pigmentosum (XP) proteins

2016/01/01 by Sandra C. Koch, Sandra Koch, Nina Simon +2 · 29 citations
Biochemistry, Genetics and Molecular Biology · Chemistry · #Biology #CRISPR and Genetic Engineering #Carcinogens and Genotoxicity Assessment #Chemistry #Cockayne syndrome #Computational biology #DNA #DNA Repair Mechanisms #DNA damage #DNA polymerase #DNA repair #Genetics #Molecular biology #Nucleotide excision repair #Xeroderma pigmentosum

paper · doi:10.1017/s0033583515000268

published in Quarterly Reviews of Biophysics 49, e5 (Cambridge University Press)

openalex publication_date 2016/01/01 · openalex created_date 2025/10/10 · openalex updated_date 2026/07/28

Abstract

Nucleotide excision repair (NER) is a highly versatile and efficient DNA repair process, which is responsible for the removal of a large number of structurally diverse DNA lesions. Its extreme broad substrate specificity ranges from DNA damages formed upon exposure to ultraviolet radiation to numerous bulky DNA adducts induced by mutagenic environmental chemicals and cytotoxic drugs used in chemotherapy. Defective NER leads to serious diseases, such as xeroderma pigmentosum (XP). Eight XP complementation groups are known of which seven (XPA-XPG) are caused by mutations in genes involved in the NER process. The eighth gene, XPV, codes for the DNA polymerase ɳ, which replicates through DNA lesions in a process called translesion synthesis (TLS). Over the past decade, detailed structural information of these DNA repair proteins involved in eukaryotic NER and TLS have emerged. These structures allow us now to understand the molecular mechanism of the NER and TLS processes in quite some detail and we have begun to understand the broad substrate specificity of NER. In this review, we aim to highlight recent advances in the process of damage recognition and repair as well as damage tolerance by the XP proteins.

Cited by

• Modulation of Colorectal Cancer Risk by Polymorphisms in 51Gln/His, 64Ile/Val, and 148Asp/Glu of APEX Gene; 23Gly/Ala of XPA Gene; and 689Ser/Arg of ERCC4 Gene. [europepmc]
• A curated gene list for expanding the horizons of pigmentation biology. [europepmc]
• The Structures of Eukaryotic Transcription Pre-initiation Complexes and Their Functional Implications. [europepmc]
• XPA: DNA Repair Protein of Significant Clinical Importance. [europepmc]
• DUSP3 maintains genomic stability and cell proliferation by modulating NER pathway and cell cycle regulatory proteins. [europepmc]
• Base Excision Repair AP-Endonucleases-Like Genes Modulate DNA Damage Response and Virulence of the Human Pathogen Cryptococcus neoformans . [europepmc]
• Xeroderma pigmentosum: an updated review. [europepmc]
• Human NTHL1 expression and subcellular distribution determines cisplatin sensitivity in human lung epithelial and non-small cell lung cancer cells. [europepmc]
• Ultraviolet Radiation Biological and Medical Implications. [europepmc]
• Utilization of natural products in diverse pathogeneses of diseases associated with single or double DNA strand damage repair. [europepmc]

Related

• Nucleotide excision repair of DNA with recombinant human proteins: definition of the minimal set of factors, active forms of TFIIH, and modulation by CAK
• Cellular Responses to DNA Damage
• Automated Image Processing for the Analysis of DNA Repair Dynamics
• An interaction between the mammalian DNA repair protein XRCC1 and DNA ligase III.
• The Mechanism of Double-Strand DNA Break Repair by the Nonhomologous DNA End-Joining Pathway