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Ultraviolet-sensitive genetic disorders associated with defects in dna repair and transcription

Objective

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 will
1) 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

Coordinator

UNIVERSITY OF SUSSEX
Address
Falmer
BN1 9RR Brighton / Falmer
United Kingdom

Participants (3)

CENTRE NATIONAL DE LA RECHERCHE SCIENTIFIQUE
France
Address
Rue Laurent Fries 1
67404 Illkirch Graffenstaden
ERASMUS UNIVERSITEIT ROTTERDAM
Netherlands
Address
Dr. Molewaterplein 50
3000 DR Rotterdam
LEIDEN UNIVERSITY
Netherlands
Address
Wassenaarseweg 72
2300 RA Leiden