hRAD30 Mutations in the Variant Form of Xeroderma Pigmentosum
Robert E. Johnson,
Christine M. Kondratick,
Satya Prakash,
Louise Prakash
*
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.
*
To whom correspondence should be addressed. E-mail:
lprakash{at}scms.utmb.edu
