hRAD30 mutations in the variant form of xeroderma pigmentosum.
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.
Sealy Center for Molecular Science, University of Texas Medical Branch at Galveston, 6.104 Medical Research Building, 11th and Mechanic Streets, Galveston, TX 77555-1061, USA.
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Johnson
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Kondratick
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Prakash
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Prakash
D000483:Alleles; D000595:Amino Acid Sequence; D002460:Cell Line; D004249:DNA Damage; D004260:DNA Repair; D004261:DNA Replication; D018076:DNA, Complementary; D004259:DNA-Directed DNA Polymerase / Q000737:chemistry / Q000235:genetics* / Q000502:physiology; D016368:Frameshift Mutation; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D009381:Neoplasms, Radiation-Induced; D014176:Protein Biosynthesis; D011740:Pyrimidine Dimers / Q000378:metabolism; D012441:Saccharomyces cerevisiae / Q000235:genetics; D016415:Sequence Alignment; D017384:Sequence Deletion; D012878:Skin Neoplasms / Q000209:etiology; D014466:Ultraviolet Rays; D014983:Xeroderma Pigmentosum / Q000235:genetics* / Q000378:metabolism; D000094769:DNA Polymerase iota; D000099270:Y-Family DNA Polymerases
D018076:DNA, Complementary; D004259:DNA-Directed DNA Polymerase; D011740:Pyrimidine Dimers; D000094769:DNA Polymerase iota; C112338:Rad30 protein; D000099270:Y-Family DNA Polymerases