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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
5425
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pubmed:dateCreated |
1999-7-27
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pubmed:databankReference |
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pubmed:abstractText |
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.
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pubmed:grant |
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pubmed:commentsCorrections |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Jul
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pubmed:issn |
0036-8075
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:day |
9
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pubmed:volume |
285
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
263-5
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pubmed:dateRevised |
2007-11-14
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pubmed:meshHeading |
pubmed-meshheading:10398605-Alleles,
pubmed-meshheading:10398605-Amino Acid Sequence,
pubmed-meshheading:10398605-Cell Line,
pubmed-meshheading:10398605-DNA, Complementary,
pubmed-meshheading:10398605-DNA Damage,
pubmed-meshheading:10398605-DNA Repair,
pubmed-meshheading:10398605-DNA Replication,
pubmed-meshheading:10398605-DNA-Directed DNA Polymerase,
pubmed-meshheading:10398605-Frameshift Mutation,
pubmed-meshheading:10398605-Humans,
pubmed-meshheading:10398605-Molecular Sequence Data,
pubmed-meshheading:10398605-Mutation,
pubmed-meshheading:10398605-Neoplasms, Radiation-Induced,
pubmed-meshheading:10398605-Protein Biosynthesis,
pubmed-meshheading:10398605-Pyrimidine Dimers,
pubmed-meshheading:10398605-Saccharomyces cerevisiae,
pubmed-meshheading:10398605-Sequence Alignment,
pubmed-meshheading:10398605-Sequence Deletion,
pubmed-meshheading:10398605-Skin Neoplasms,
pubmed-meshheading:10398605-Ultraviolet Rays,
pubmed-meshheading:10398605-Xeroderma Pigmentosum
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pubmed:year |
1999
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pubmed:articleTitle |
hRAD30 mutations in the variant form of xeroderma pigmentosum.
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pubmed:affiliation |
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.
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.
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