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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.
C Masutani, and
R Kusumoto, and
A Yamada, and
N Dohmae, and
M Yokoi, and
M Yuasa, and
M Araki, and
S Iwai, and
K Takio, and
F Hanaoka
January 2002,
Proceedings of the National Academy of Sciences of the United States of America,
C Masutani, and
R Kusumoto, and
A Yamada, and
N Dohmae, and
M Yokoi, and
M Yuasa, and
M Araki, and
S Iwai, and
K Takio, and
F Hanaoka
July 2007,
The Journal of investigative dermatology,
C Masutani, and
R Kusumoto, and
A Yamada, and
N Dohmae, and
M Yokoi, and
M Yuasa, and
M Araki, and
S Iwai, and
K Takio, and
F Hanaoka
October 1993,
Nature,
C Masutani, and
R Kusumoto, and
A Yamada, and
N Dohmae, and
M Yokoi, and
M Yuasa, and
M Araki, and
S Iwai, and
K Takio, and
F Hanaoka
August 1994,
Nucleic acids research,
C Masutani, and
R Kusumoto, and
A Yamada, and
N Dohmae, and
M Yokoi, and
M Yuasa, and
M Araki, and
S Iwai, and
K Takio, and
F Hanaoka
January 2001,
Genes & development,
C Masutani, and
R Kusumoto, and
A Yamada, and
N Dohmae, and
M Yokoi, and
M Yuasa, and
M Araki, and
S Iwai, and
K Takio, and
F Hanaoka
October 2011,
Experimental and molecular pathology,
C Masutani, and
R Kusumoto, and
A Yamada, and
N Dohmae, and
M Yokoi, and
M Yuasa, and
M Araki, and
S Iwai, and
K Takio, and
F Hanaoka
September 2000,
Oncogene,
C Masutani, and
R Kusumoto, and
A Yamada, and
N Dohmae, and
M Yokoi, and
M Yuasa, and
M Araki, and
S Iwai, and
K Takio, and
F Hanaoka
February 2006,
Molecular and cellular biology,
C Masutani, and
R Kusumoto, and
A Yamada, and
N Dohmae, and
M Yokoi, and
M Yuasa, and
M Araki, and
S Iwai, and
K Takio, and
F Hanaoka
July 2000,
Nucleic acids research,
C Masutani, and
R Kusumoto, and
A Yamada, and
N Dohmae, and
M Yokoi, and
M Yuasa, and
M Araki, and
S Iwai, and
K Takio, and
F Hanaoka
April 2007,
Cancer research,
