DNA repair and ultraviolet mutagenesis in cells from a new patient with xeroderma pigmentosum group G and Cockayne syndrome resemble xeroderma pigmentosum cells (Articolo in rivista)

Type
Label
  • DNA repair and ultraviolet mutagenesis in cells from a new patient with xeroderma pigmentosum group G and Cockayne syndrome resemble xeroderma pigmentosum cells (Articolo in rivista) (literal)
Anno
  • 1996-01-01T00:00:00+01:00 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi
  • 10.1111/1523-1747.ep12584287 (literal)
Alternative label
  • Moriwaki S, Stefanini M, Lehmann AR, Hoeijmakers JHJ, Robbins JH, Rapin I, Botta E, Tanganelli B, Vermeulen W, Broughton BC and Kraemer KH (1996)
    DNA repair and ultraviolet mutagenesis in cells from a new patient with xeroderma pigmentosum group G and Cockayne syndrome resemble xeroderma pigmentosum cells
    in Journal of investigative dermatology; Elsevier Science Inc., New York (Stati Uniti d'America)
    (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
  • Moriwaki S, Stefanini M, Lehmann AR, Hoeijmakers JHJ, Robbins JH, Rapin I, Botta E, Tanganelli B, Vermeulen W, Broughton BC and Kraemer KH (literal)
Pagina inizio
  • 647 (literal)
Pagina fine
  • 653 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume
  • 107 (literal)
Rivista
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroFascicolo
  • 4 (literal)
Note
  • ISI Web of Science (WOS) (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni
  • Stefanini, Botta, Tanganelli: IGBE CNR Pavia Moriwaki, Kraemer: NCI, Mol Carcinogenesis Lab, Bethesda, MD Robbins:NCI, Dermatol Branch, Bethesda, MD Lehmann, Broughton: MRC, University of Sussex UK Rapin:Albert Einstein Coll Med Dept Neurol, Bronx, NY Hoeijmakers, Vermeulen: Erasmus University Rotterdam NL (literal)
Titolo
  • DNA repair and ultraviolet mutagenesis in cells from a new patient with xeroderma pigmentosum group G and Cockayne syndrome resemble xeroderma pigmentosum cells (literal)
Abstract
  • Xeroderma pigmentosum (XP)/Cockayne syndrome (CS) complex is a combination of clinical features of two rare genetic disorders in one individual, A sun-sensitive boy (XP20BE) who had severe symptoms of CS, with dwarfism, microcephaly, retinal degeneration, and mental impairment, had XP-type pigmentation and died at 6 y with marked cachexia (weight 14.5 lb) without skin cancers, We evaluated his cultured cells for characteristic CS or XP DNA-repair abnormalities. The level of ultraviolet (UV)-induced unscheduled DNA synthesis was less than 5% of normal, characteristic of the excision-repair defect of XP. Cell fusion studies indicated that his cells were in XP complementation group G, His cells were hypersensitive to killing by UV, and their post-UV recovery of RNA synthesis was abnormally low, features of both CS and XP, Post-UV survival of plasmid pSP189 in his cells was markedly reduced, and post-UV plasmid mutation frequency was higher than with normal cells, as in both CS and XP, Sequence analysis of the mutated plasmid marker gene showed normal frequency of plasmids with multiple base substitutions, as in CS, and an abnormally increased frequency of G:C --> A:T mutations, a feature of XP. Transfection of UV-treated pRSV cat with or without photoreactivation revealed that his cells, like XP cells, could not repair either cyclobutane pyrimidine dimers or non-dimer photoproducts. These results indicate that the DNA-repair features of the XP20BE (XP-G/CS) cells are phenotypically more like XP cells than CS cells, whereas clinically the CS phenotype is more prominent than XP. (literal)
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