hRAD30 Mutations in the Variant Form of Xeroderma Pigmentosum

作者：Robert Eugene Johnson, Christine M. Kondratick, Satya Prakash, Louise Prakash · 发表于：Science · 年份：1999 · DOI：10.1126/science.285.5425.263 · 被引用次数：732 · 研究领域：DNA Repair Mechanisms、Photosynthetic Processes and Mechanisms、Fungal and yeast genetics research

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.