hRAD30 mutations in the variant form of xeroderma pigmentosum

Robert E. Johnson, Christine M. Kondratick, Satya Prakash, Louise Prakash

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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.

Original languageEnglish (US)
Pages (from-to)263-265
Number of pages3
JournalScience
Volume285
Issue number5425
DOIs
StatePublished - Jul 9 1999

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