PMID: 7513056May 1, 1994Paper

A new UV-sensitive syndrome not belonging to any complementation groups of xeroderma pigmentosum or Cockayne syndrome: siblings showing biochemical characteristics of Cockayne syndrome without typical clinical manifestations

Mutation Research
T ItohM Yamaizumi

Abstract

We report here on two siblings who show no clinical manifestations except for slight cutaneous photosensitivity and cutaneous pigmentation but have biochemical characteristics of Cockayne syndrome (CS). Fibroblasts derived from the patients (Kps2 and Kps3) were 3-4 times more sensitive to UV than normal cells. Although unscheduled DNA synthesis (UDS) in these cells was at a normal level, recovery of RNA synthesis (RRS) after UV irradiation was severely depressed. Microinjection of bacteriophage T4 endonuclease V into the cells corrected RRS after UV irradiation to a level near normal. These results indicate that DNA repair of cyclobutane-type pyrimidine dimers is impaired in the cells and the biochemical characteristics are similar to those of CS cells. However, cell fusion complementation tests with CS group A and B cells resulted in correction of RRS after UV irradiation. Cell fusion with XP group A, B, D, F and G cells also corrected RRS after UV irradiation, and microinjection of cell extracts prepared from Kps3 cells corrected UDS in XP group C and E cells, indicating that the patients do not belong to any complementation group of XP or CS. These results suggest that the patients have a new UV-sensitive syndrome with a bio...Continue Reading

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Citations

Jun 14, 2013·Chromosoma·Petra SchwertmanJurgen A Marteijn
May 27, 2005·Mutation Research·Graciela Spivak
Jan 10, 2008·European Journal of Human Genetics : EJHG·Vincent LaugelHelene Dollfus
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Oct 16, 2004·Proceedings of the National Academy of Sciences of the United States of America·Katsuyoshi HoribataKiyoji Tanaka
Nov 8, 2006·Proceedings of the National Academy of Sciences of the United States of America·Federica MariniMarco Muzi Falconi
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