Publication Date:
1999-07-10
Description:
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.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Johnson, R E -- Kondratick, C M -- Prakash, S -- Prakash, L -- GM19261/GM/NIGMS NIH HHS/ -- New York, N.Y. -- Science. 1999 Jul 9;285(5425):263-5.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉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.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/10398605" target="_blank"〉PubMed〈/a〉
Keywords:
Alleles
;
Amino Acid Sequence
;
Cell Line
;
DNA Damage
;
DNA Repair
;
*DNA Replication
;
DNA, Complementary
;
DNA-Directed DNA Polymerase/chemistry/*genetics/physiology
;
Frameshift Mutation
;
Humans
;
Molecular Sequence Data
;
*Mutation
;
Neoplasms, Radiation-Induced
;
Protein Biosynthesis
;
Pyrimidine Dimers/metabolism
;
Saccharomyces cerevisiae/genetics
;
Sequence Alignment
;
Sequence Deletion
;
Skin Neoplasms/etiology
;
Ultraviolet Rays
;
Xeroderma Pigmentosum/*genetics/metabolism
Print ISSN:
0036-8075
Electronic ISSN:
1095-9203
Topics:
Biology
,
Chemistry and Pharmacology
,
Computer Science
,
Medicine
,
Natural Sciences in General
,
Physics
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