hRAD30 Mutations in the Variant Form of Xeroderma Pigmentosum

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Science  09 Jul 1999:
Vol. 285, Issue 5425, pp. 263-265
DOI: 10.1126/science.285.5425.263

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Xeroderma pigmentosum (XP) is an autosomal recessive disease characterized by a high incidence of skin cancers. YeastRAD30encodes 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 yeastRAD30. 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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