Objetivo The UV-sensitive disorders, xeroderma pigmentosum (XP), Cockayne Syndrome (CS) and trichothiodystrophy (TTD) are associated with defects in DNA repair. XP is cancer- prone, whereas CS and TTD are cancer-free multi-system genetic disorders. The genes defective in CS and TTD have dual functions in DNA repair and in transcription. We will1) establish cell strains from new patients, characterise their DNA repair defects and determine the sites of the mutations in the appropriate genes;2) determine the effects of the mutations on the activities of the gene products;3) determine the relationships between defects in repair and transcription, by analysis of TFIIH, the transcription factor affected in patients with TTD and some patients with XP, and by studying the mechanism of transcription- coupled repair, witch is defective in CS;4) identify the defect in the variant form of XP;5) study genotype-phenotype relationships in transgenic mouse models Ámbito científico natural sciencesbiological sciencesgeneticsDNAnatural sciencesbiological sciencesgeneticsmutationmedical and health sciencesclinical medicineoncology Programa(s) FP5-LIFE QUALITY - Specific Programme for research, technological development and demonstration on "Quality of life and management of living resources", 1998-2002 Tema(s) 1.1.1.-7. - Chronic and degenerative diseases, cancer, diabetes, cardivascular diseases and rare diseases Convocatoria de propuestas Data not available Régimen de financiación CSC - Cost-sharing contracts Coordinador UNIVERSITY OF SUSSEX Aportación de la UE Sin datos Dirección Falmer BN1 9RR BRIGHTON / FALMER Reino Unido Ver en el mapa Coste total Sin datos Participantes (3) Ordenar alfabéticamente Ordenar por aportación de la UE Ampliar todo Contraer todo CENTRE NATIONAL DE LA RECHERCHE SCIENTIFIQUE Francia Aportación de la UE Sin datos Dirección Rue Laurent Fries 1 67404 ILLKIRCH GRAFFENSTADEN Ver en el mapa Coste total Sin datos ERASMUS UNIVERSITEIT ROTTERDAM Países Bajos Aportación de la UE Sin datos Dirección Dr. Molewaterplein 50 3000 DR ROTTERDAM Ver en el mapa Coste total Sin datos LEIDEN UNIVERSITY Países Bajos Aportación de la UE Sin datos Dirección Wassenaarseweg 72 2300 RA LEIDEN Ver en el mapa Coste total Sin datos
