The XPV (xeroderma pigmentosum variant) gene encodes human DNA polymerase eta - PubMed (original) (raw)
. 1999 Jun 17;399(6737):700-4.
doi: 10.1038/21447.
Affiliations
- PMID: 10385124
- DOI: 10.1038/21447
The XPV (xeroderma pigmentosum variant) gene encodes human DNA polymerase eta
C Masutani et al. Nature. 1999.
Abstract
Xeroderma pigmentosum variant (XP-V) is an inherited disorder which is associated with increased incidence of sunlight-induced skin cancers. Unlike other xeroderma pigmentosum cells (belonging to groups XP-A to XP-G), XP-V cells carry out normal nucleotide-excision repair processes but are defective in their replication of ultraviolet-damaged DNA. It has been suspected for some time that the XPV gene encodes a protein that is involved in trans-lesion DNA synthesis, but the gene product has never been isolated. Using an improved cell-free assay for trans-lesion DNA synthesis, we have recently isolated a DNA polymerase from HeLa cells that continues replication on damaged DNA by bypassing ultraviolet-induced thymine dimers in XP-V cell extracts. Here we show that this polymerase is a human homologue of the yeast Rad30 protein, recently identified as DNA polymerase eta. This polymerase and yeast Rad30 are members of a family of damage-bypass replication proteins which comprises the Escherichia coli proteins UmuC and DinB and the yeast Rev1 protein. We found that all XP-V cells examined carry mutations in their DNA polymerase eta gene. Recombinant human DNA polymerase eta corrects the inability of XP-V cell extracts to carry out DNA replication by bypassing thymine dimers on damaged DNA. Together, these results indicate that DNA polymerase eta could be the XPV gene product.
Comment in
- DNA repair. Variants on a theme.
Wood RD. Wood RD. Nature. 1999 Jun 17;399(6737):639-40. doi: 10.1038/21323. Nature. 1999. PMID: 10385109 No abstract available.
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