Cited by 83DNA Repair MechanismsGenetic factors in colorectal cancerGenetic and rare skin diseases.

Xeroderma pigmentosum genes: Functions inside and outside DNA repair

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Sugasawa, K.·2007·Carcinogenesis

Abstract

Xeroderma pigmentosum (XP) is an autosomal recessive disease, which is characterized by susceptibility to ultraviolet light (UV)-induced skin cancer. Among eight genes so far identified as responsible for XP, XPA through XPG are involved in nucleotide excision repair of DNA damage induced by UV as well as various chemical carcinogens. Since this repair system removes a major UV photoproduct, the cyclobutane pyrimidine dimer, quite slowly from the global genome, this lesion must be accurately bypassed during replication by DNA polymerase eta, encoded by the XPV gene. Recent studies have revealed that each of these XP genes possesses additional functions, some of which are concerned with other DNA repair pathways and/or cellular DNA damage responses. Such differential functions not only explain clinical heterogeneity among different genetic complementation groups but also have implications for the promotion of carcinogenic processes in XP patients.

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Crossref · 10.1093/carcin/bgm282

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  • Studies using XPA-deficient cells showed defects in ATR signaling upon DNA damage and suggest an additional role of XPA in damage signaling.

    “Studies using XPA-deficient cells showed defects in ATR signaling upon DNA damage and suggest an additional role of XPA (to that observed in NER pathway) in damage signaling [73].”
  • XPA and XPD are thought to have a dualistic nature and were shown to affect cell cycle checkpoint signaling.

    “These include proteins of the NER system, such as XPA and XPD, that are thought to have a dualistic nature and were shown to affect cell cycle checkpoint signaling [73,74].”

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  1. Bootsma,D. et al. (2001) Nucleotide excision repair syndromes: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy. In Scriver,C.R., Beaudet,A.L., Sly,W.S. and Valle,D. (eds.) The Metabolic and Molecular Basis of Inherited Disease. , Vol. 1, McGraw-Hill Book Co., New York, NY, pp. 677-703.

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Authors
Sugasawa, K.
Affiliations
Japan Science and Technology Agency (JP)
Corresponding author
Sugasawa, K.
Venue
Carcinogenesis
Published
2007-10-04
Volume
29
Issue
3
Pages
455-465
ISSN
  • 0143-3334 (ISSN-L)
  • 1460-2180
OpenAlex
W2163014093
Cited by
83
References
260
Citations by year
2026: 1 · 2024: 3 · 2023: 1 · 2022: 4 · 2021: 6 · 2020: 8 · 2019: 2 · 2018: 3 · 2017: 4 · 2016: 2 · 2015: 6 · 2014: 9 · 2013: 4 · 2012: 4
FWCI
2.77
Type
journal article
Language
en
Open access
Licence
other-oa
Locations
  • Carcinogenesis (publishedVersion, other-oa)
  • PubMed (publishedVersion)
  • Institutional Repositories DataBase (IRDB) (submittedVersion, other-oa)
  • Kobe University Repository Kernel (Kobe University) (submittedVersion, other-oa)
Funders
  • Ministry of Education, Culture, Sports, Science and Technology
  • Japan Science and Technology Agency
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › DNA Repair Mechanisms
  • Health Sciences › Medicine › Pathology and Forensic Medicine › Genetic factors in colorectal cancer
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and rare skin diseases.
Keywords
xeroderma pigmentosum, nucleotide excision repair, DNA repair genes, XPA, XPG, DNA polymerase eta, cyclobutane pyrimidine dimers, DNA damage response, chemical carcinogens
MeSH terms
DNA Damage, DNA Repair, Genetic Complementation Test, Humans, Neoplasms, Radiation-Induced, Skin Neoplasms, Transcription, Genetic, Ultraviolet Rays, Xeroderma Pigmentosum

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