MOLECULAR AND CELLULAR ANALYSIS OF THE DNA-REPAIR DEFECT IN A PATIENT IN XERODERMA-PIGMENTOSUM COMPLEMENTATION GROUP-D WHO HAS THE CLINICAL-FEATURES OF XERODERMA-PIGMENTOSUM AND COCKAYNE-SYNDROME (Articolo in rivista)

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  • MOLECULAR AND CELLULAR ANALYSIS OF THE DNA-REPAIR DEFECT IN A PATIENT IN XERODERMA-PIGMENTOSUM COMPLEMENTATION GROUP-D WHO HAS THE CLINICAL-FEATURES OF XERODERMA-PIGMENTOSUM AND COCKAYNE-SYNDROME (Articolo in rivista) (literal)
Anno
  • 1995-01-01T00:00:00+01:00 (literal)
Alternative label
  • Broughton BC, Thompson AF, Harcourt SA, Vermeulen W, Hoeijmakers JHJ, Botta E, Stefanini M, King MD, Weber CA, Cole J, Arlett CF and Lehmann AR (1995)
    MOLECULAR AND CELLULAR ANALYSIS OF THE DNA-REPAIR DEFECT IN A PATIENT IN XERODERMA-PIGMENTOSUM COMPLEMENTATION GROUP-D WHO HAS THE CLINICAL-FEATURES OF XERODERMA-PIGMENTOSUM AND COCKAYNE-SYNDROME
    in American journal of human genetics; University of Chicago Press, Chicago (Stati Uniti d'America)
    (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
  • Broughton BC, Thompson AF, Harcourt SA, Vermeulen W, Hoeijmakers JHJ, Botta E, Stefanini M, King MD, Weber CA, Cole J, Arlett CF and Lehmann AR (literal)
Pagina inizio
  • 167 (literal)
Pagina fine
  • 174 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume
  • 56 (literal)
Rivista
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroFascicolo
  • 1 (literal)
Note
  • ISI Web of Science (WOS) (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni
  • Botta, Stefanini: IGBE CNR Pavia Broughton, Thompson, Harcourt, Cole, Arlett, Lehmann: MRC University of Sussex UK Vermeulen, Hoeijmakers: Erasmus University Rotterdam NL King: The Children Hospital Dublin IR Weber: Lawrence Livermore Natl Lab, Livermore, CA (literal)
Titolo
  • MOLECULAR AND CELLULAR ANALYSIS OF THE DNA-REPAIR DEFECT IN A PATIENT IN XERODERMA-PIGMENTOSUM COMPLEMENTATION GROUP-D WHO HAS THE CLINICAL-FEATURES OF XERODERMA-PIGMENTOSUM AND COCKAYNE-SYNDROME (literal)
Abstract
  • Xeroderma pigmentosum (XP) and Cockayne syndrome (CS) are quite distinct genetic disorders that are associated with defects in excision repair of UV-induced DNA damage. A few patients have been described previously with the clinical features of both disorders. In this paper we describe an individual in this category who has unusual cellular responses to UV light. We show that his cultured fibroblasts and lymphocytes are extremely sensitive to irradiation with UV-C, despite a level of nucleotide excision repair that is 30%-40% that of normal cells. The deficiency is assigned to the XP-D complementation group, and we have identified two causative mutations in the XPD gene: a gly-->arg change at amino acid 675 in the allele inherited from the patient's mother and a -1 frameshift at amino acid 669 in the allele inherited from his father. These mutations are in the C-terminal 20% of the 760-amino-acid XPD protein, in a region where we have recently identified several mutations in patients with trichothiodystrophy. (literal)
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