Experts and Doctors on xeroderma pigmentosum in Japan


Locale: Japan
Topic: xeroderma pigmentosum

Top Publications

  1. Nakura J, Ye L, Morishima A, Kohara K, Miki T. Helicases and aging. Cell Mol Life Sci. 2000;57:716-30 pubmed
    ..Furthermore, a few studies imply some association between aberration of the helicases and phenotypes in ordinary aging. ..
  2. Itoh T, Mori T, Ohkubo H, Yamaizumi M. A newly identified patient with clinical xeroderma pigmentosum phenotype has a non-sense mutation in the DDB2 gene and incomplete repair in (6-4) photoproducts. J Invest Dermatol. 1999;113:251-7 pubmed
  3. Yagi T, Matsumura Y, Sato M, Nishigori C, Mori T, Sijbers A, et al. Complete restoration of normal DNA repair characteristics in group F xeroderma pigmentosum cells by over-expression of transfected XPF cDNA. Carcinogenesis. 1998;19:55-60 pubmed
    ..These results demonstrate that excision repair defect in XP-F cells is fully corrected by over-expression of XPF cDNA alone, although only partial correction of the cells by XPF cDNA has been reported before. ..
  4. Iwamoto T, Kobayashi N, Imoto K, Yamamoto A, Nakamura Y, Yamauchi Y, et al. In situ detection of acetylaminofluorene-DNA adducts in human cells using monoclonal antibodies. DNA Repair (Amst). 2004;3:1475-82 pubmed
    ..Thus, we succeeded in establishing novel monoclonal antibodies capable of the in situ detection of NA-AAF-induced DNA adducts in human cells. ..
  5. Nishiwaki Y, Kobayashi N, Imoto K, Iwamoto T, Yamamoto A, Katsumi S, et al. Trichothiodystrophy fibroblasts are deficient in the repair of ultraviolet-induced cyclobutane pyrimidine dimers and (6-4)photoproducts. J Invest Dermatol. 2004;122:526-32 pubmed
    ..Our results suggest that there is no major difference in the repair defect between TTD and XP-D and that the cancer-free phenotype in TTD is unrelated to a DNA repair defect. ..
  6. Fujimoto M, Leech S, Theron T, Mori M, Fawcett H, Botta E, et al. Two new XPD patients compound heterozygous for the same mutation demonstrate diverse clinical features. J Invest Dermatol. 2005;125:86-92 pubmed
    ..Despite these similarities between our two patients, their clinical features are quite different and the clinical severity correlates with other cellular responses to ultraviolet irradiation. ..
  7. Hayashi M, Itoh M, Araki S, Kumada S, Shioda K, Tamagawa K, et al. Oxidative stress and disturbed glutamate transport in hereditary nucleotide repair disorders. J Neuropathol Exp Neurol. 2001;60:350-6 pubmed
    ..These data suggest that oxidative stress and disturbed glutamate transport may be involved in pallidal and/or cerebellar degeneration in hereditary nucleotide repair disorders. ..
  8. Bito T, Sumita N, Masaki T, Shirakawa T, Ueda M, Yoshiki R, et al. Ultraviolet light induces Stat3 activation in human keratinocytes and fibroblasts through reactive oxygen species and DNA damage. Exp Dermatol. 2010;19:654-60 pubmed publisher
    ..The present data suggest that Stat3 activation in UV-exposed human skin is one of the initial events where DNA damage and ROS are involved. ..
  9. Miyamoto I, Miura N, Niwa H, Miyazaki J, Tanaka K. Mutational analysis of the structure and function of the xeroderma pigmentosum group A complementing protein. Identification of essential domains for nuclear localization and DNA excision repair. J Biol Chem. 1992;267:12182-7 pubmed
    ..These results suggest that all 4 cysteines forming a zinc-finger structure and also the glutamic acid cluster are important for DNA repair function. ..

More Information


  1. Nishiwaki T, Kobayashi N, Iwamoto T, Yamamoto A, Sugiura S, Liu Y, et al. Comparative study of nucleotide excision repair defects between XPD-mutated fibroblasts derived from trichothiodystrophy and xeroderma pigmentosum patients. DNA Repair (Amst). 2008;7:1990-8 pubmed publisher
    ..Since TFIIH is a repair/transcription factor, TTD-specific alterations of TFIIH possibly result in transcriptional defects, which might be implication for the lack of increased incidence of skin cancers in TTD patients. ..
  2. Harada Y, Shiomi N, Koike M, Ikawa M, Okabe M, Hirota S, et al. Postnatal growth failure, short life span, and early onset of cellular senescence and subsequent immortalization in mice lacking the xeroderma pigmentosum group G gene. Mol Cell Biol. 1999;19:2366-72 pubmed
    ..Our in vitro studies showed that primary embryonic fibroblasts isolated from the xpg-deficient mice underwent premature senescence and exhibited the early onset of immortalization and accumulation of p53. ..
  3. Kohji T, Hayashi M, Shioda K, Minagawa M, Morimatsu Y, Tamagawa K, et al. Cerebellar neurodegeneration in human hereditary DNA repair disorders. Neurosci Lett. 1998;243:133-6 pubmed
    ..These findings suggest that apoptotic cell death can be involved in the cerebellar degeneration in patients with hereditary defects in DNA repair mechanisms...
  4. Kobayashi T, Kuraoka I, Saijo M, Nakatsu Y, Tanaka A, Someda Y, et al. Mutations in the XPD gene leading to xeroderma pigmentosum symptoms. Hum Mutat. 1997;9:322-31 pubmed
    ..However, the transfectant expressing the XPD cDNA with the missense mutation was slightly more resistant than the parental XP6BE cells. These findings are consistent with the mild symptoms of the XP61OS patient. ..
  5. Itoh T, Shiomi T, Shiomi N, Harada Y, Wakasugi M, Matsunaga T, et al. Rodent complementation group 8 (ERCC8) corresponds to Cockayne syndrome complementation group A. Mutat Res. 1996;362:167-74 pubmed
    ..Complementation tests by cell fusion and transfection using 6L1030 cells revealed that rodent complementation group 8 corresponded to CS complementation group A...
  6. Tanaka K, Wood R. Xeroderma pigmentosum and nucleotide excision repair of DNA. Trends Biochem Sci. 1994;19:83-6 pubmed
  7. Nakane H, Takeuchi S, Yuba S, Saijo M, Nakatsu Y, Murai H, et al. High incidence of ultraviolet-B-or chemical-carcinogen-induced skin tumours in mice lacking the xeroderma pigmentosum group A gene. Nature. 1995;377:165-8 pubmed
    ..The XPA-deficient mice may provide a good in vivo model to study the high incidence of skin carcinogenesis in group A XP patients. ..
  8. Shimamoto T, Tanimura T, Yoneda Y, Kobayakawa Y, Sugasawa K, Hanaoka F, et al. Expression and functional analyses of the Dxpa gene, the Drosophila homolog of the human excision repair gene XPA. J Biol Chem. 1995;270:22452-9 pubmed
  9. Tanaka K, Miura N, Satokata I, Miyamoto I, Yoshida M, Satoh Y, et al. Analysis of a human DNA excision repair gene involved in group A xeroderma pigmentosum and containing a zinc-finger domain. Nature. 1990;348:73-6 pubmed
    ..The human and mouse XPAC genes are located on chromosome 9q34.1 and chromosome 4C2, respectively. Human XPAC cDNA encodes a protein of 273 amino acids with a zinc-finger motif. ..
  10. Shimamoto T, Kohno K, Tanaka K, Okada Y. Molecular cloning of human XPAC gene homologs from chicken, Xenopus laevis and Drosophila melanogaster. Biochem Biophys Res Commun. 1991;181:1231-7 pubmed
    ..These results strongly suggest that the COOH-terminal domain containing a zinc-finger motif plays an important role in the function of these proteins. ..
  11. Yamada A, Masutani C, Iwai S, Hanaoka F. Complementation of defective translesion synthesis and UV light sensitivity in xeroderma pigmentosum variant cells by human and mouse DNA polymerase eta. Nucleic Acids Res. 2000;28:2473-80 pubmed publisher
    ..These results suggest that DNA polymerase eta plays a role in DNA replication, though the enzyme is not essential for viability. ..
  12. Tanaka K, Satokata I, Ogita Z, Uchida T, Okada Y. Molecular cloning of a mouse DNA repair gene that complements the defect of group-A xeroderma pigmentosum. Proc Natl Acad Sci U S A. 1989;86:5512-6 pubmed
    ..These results suggest that the cloned DNA repair gene is specific for group-A XP and may be the mouse homologue of the group-A XP human gene. ..
  13. Miura N, Miyamoto I, Asahina H, Satokata I, Tanaka K, Okada Y. Identification and characterization of xpac protein, the gene product of the human XPAC (xeroderma pigmentosum group A complementing) gene. J Biol Chem. 1991;266:19786-9 pubmed
    ..These levels of xpac proteins in xeroderma pigmentosum cells were determinants of heterogeneity of the DNA repair defect in group A xeroderma pigmentosum. Synthesis of the xpac protein did not increase after UV irradiation. ..
  14. Satokata I, Tanaka K, Miura N, Miyamoto I, Satoh Y, Kondo S, et al. Characterization of a splicing mutation in group A xeroderma pigmentosum. Proc Natl Acad Sci U S A. 1990;87:9908-12 pubmed
    ..The polymorphic AlwNI restriction fragments are concluded to be useful for diagnosis of group A XP in Japanese subjects, including prenatal cases and carriers. ..