hRAD30 mutations in the variant form of xeroderma pigmentosum

Science. 1999 Jul 9;285(5425):263-5. doi: 10.1126/science.285.5425.263.


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.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Alleles
  • Amino Acid Sequence
  • Cell Line
  • DNA Damage
  • DNA Polymerase iota
  • DNA Repair
  • DNA Replication*
  • DNA, Complementary
  • DNA-Directed DNA Polymerase / chemistry
  • DNA-Directed DNA Polymerase / genetics*
  • DNA-Directed DNA Polymerase / physiology
  • Frameshift Mutation
  • Humans
  • Molecular Sequence Data
  • Mutation*
  • Neoplasms, Radiation-Induced
  • Protein Biosynthesis
  • Pyrimidine Dimers / metabolism
  • Saccharomyces cerevisiae / genetics
  • Sequence Alignment
  • Sequence Deletion
  • Skin Neoplasms / etiology
  • Ultraviolet Rays
  • Xeroderma Pigmentosum / genetics*
  • Xeroderma Pigmentosum / metabolism


  • DNA, Complementary
  • Pyrimidine Dimers
  • DNA-Directed DNA Polymerase
  • Rad30 protein
  • DNA Polymerase iota

Associated data

  • GENBANK/AF158185