hRAD30 mutations in the variant form of xeroderma pigmentosum - PubMed (original) (raw)
hRAD30 mutations in the variant form of xeroderma pigmentosum
R E Johnson et al. Science. 1999.
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.
Comment in
- Stopping DNA replication in its tracks.
Cleaver JE. Cleaver JE. Science. 1999 Jul 9;285(5425):212-3. doi: 10.1126/science.285.5425.212. Science. 1999. PMID: 10428720 No abstract available.
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