Genomes and Genes
Experts and Doctors on xeroderma pigmentosum in Japan
Topic: xeroderma pigmentosum
- 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. ..
- 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. ..
- 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...
- 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. ..
- 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...
- Tanaka K, Wood R. Xeroderma pigmentosum and nucleotide excision repair of DNA. Trends Biochem Sci. 1994;19:83-6 pubmed
- 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. ..
- 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
- 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. ..
- 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. ..
- 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. ..
- 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. ..
- 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. ..
- 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. ..