Document Detail

A new disorder in UV-induced skin cancer with defective DNA repair distinct from xeroderma pigmentosum or Cockayne syndrome.
MedLine Citation:
PMID:  17928894     Owner:  NLM     Status:  MEDLINE    
We report the characterization of a Japanese woman who exhibited many freckles and skin cancers in sun-exposed areas, but displayed no photosensitivity. Fibroblasts (KPSX7) derived from this patient showed similar UV sensitivity to that of normal human fibroblasts. The KPSX7 cells showed normal levels of unscheduled DNA synthesis, recovery of RNA synthesis, recovery of replicative DNA synthesis, protein-binding ability to UV-damaged DNA, and post-translational modification of xeroderma pigmentosum (XP) C. These results indicate that the patient had neither XP nor Cockayne syndrome. Although these results suggest that the KPSX7 cells were proficient in nucleotide excision repair activity, host-cell reactivation (HCR) activity of KPSX7 cells was reduced. Furthermore, introduction of UV damage endonuclease into the cells restored repair activity in the HCR assay to almost normal levels. These results indicate that KPSX7 cells are defective for some types of repair activity in UV-damaged DNA. In summary, the patient had a previously unknown disorder related to UV-induced carcinogenesis, with defective DNA repair.
Satoru Hashimoto; Kiyofumi Egawa; Hironobu Ihn; Ai Igarashi; Tsukasa Matsunaga; Satoshi Tateishi; Masaru Yamaizumi
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't     Date:  2007-10-11
Journal Detail:
Title:  The Journal of investigative dermatology     Volume:  128     ISSN:  1523-1747     ISO Abbreviation:  J. Invest. Dermatol.     Publication Date:  2008 Mar 
Date Detail:
Created Date:  2008-02-12     Completed Date:  2008-03-10     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0426720     Medline TA:  J Invest Dermatol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  694-701     Citation Subset:  IM    
Institute of Molecular Embryology and Genetics, Kumamoto University, Kumamoto, Japan.
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MeSH Terms
Cockayne Syndrome / pathology
DNA Repair*
DNA, Neoplasm*
Fibroblasts / pathology,  radiation effects
Melanosis / pathology
Neoplasms, Radiation-Induced / pathology*
Skin Neoplasms / etiology,  pathology*
Ultraviolet Rays / adverse effects*
Xeroderma Pigmentosum / pathology
Reg. No./Substance:
0/DNA, Neoplasm

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