Cited by 732DNA Repair MechanismsGenetic and rare skin diseases.Genetic factors in colorectal cancer

hRAD30 Mutations in the Variant Form of Xeroderma Pigmentosum

Johnson, Robert E., Kondratick, Christine M., Prakash, Satya, Prakash, Louise·1999·Science

Abstract

Xeroderma pigmentosum (XP) is an autosomal recessive disease characterized by a high incidence of skin cancers. Yeast RAD30 encodes a DNA polymerase involved in the error-free bypass of ultraviolet (UV) damage. Here it is shown that XP variant (XP-V) cell lines harbor nonsense or frameshift mutations in hRAD30, the human counterpart of yeast RAD30. Of the eight mutations identified, seven would result in a severely truncated hRad30 protein. These results indicate that defects in hRAD30 cause XP-V, and they suggest that error-free replication of UV lesions by hRad30 plays an important role in minimizing the incidence of sunlight-induced skin cancers.

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Crossref · 10.1126/science.285.5425.263

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Authors
Johnson, R. E., Kondratick, C. M., Prakash, S., & Prakash, L.
Affiliations
The University of Texas Medical Branch at Galveston (US)
Corresponding author
Prakash, Louise
Venue
Science
Published
1999-07-09
Volume
285
Issue
5425
Pages
263-265
ISSN
  • 0036-8075 (ISSN-L)
  • 1095-9203
OpenAlex
W2065286203
Cited by
732
References
1
Citations by year
2026: 8 · 2025: 7 · 2024: 6 · 2023: 3 · 2022: 12 · 2021: 10 · 2020: 15 · 2019: 16 · 2018: 18 · 2017: 22 · 2016: 16 · 2015: 18 · 2014: 21 · 2013: 20 · 2012: 35
FWCI
21.82
Type
journal article
Language
en
Open access
closed
Locations
  • Science (publishedVersion)
  • PubMed (publishedVersion)
Funders
  • National Institutes of Health (5r01gm019261-30)
  • National Institute of General Medical Sciences (GM-19261)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › DNA Repair Mechanisms
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and rare skin diseases.
  • Health Sciences › Medicine › Pathology and Forensic Medicine › Genetic factors in colorectal cancer
Keywords
xeroderma pigmentosum variant, DNA polymerase, nonsense mutation, frameshift mutation, UV-induced DNA damage, error-free bypass, skin cancer predisposition, UV mutagenesis, truncated protein
MeSH terms
DNA Polymerase iota, Y-Family DNA Polymerases, Alleles, Amino Acid Sequence, Cell Line, DNA Damage, DNA-Directed DNA Polymerase, DNA Repair, DNA Replication, Humans, Molecular Sequence Data, Mutation, Neoplasms, Radiation-Induced, Pyrimidine Dimers, Saccharomyces cerevisiae, Skin Neoplasms, Protein Biosynthesis, Ultraviolet Rays, Xeroderma Pigmentosum, Frameshift Mutation, Sequence Alignment, Sequence Deletion, DNA, Complementary

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