ERCC6, a gen involved in Cockayne's syndrome

Knowledge on the molecular mechanism of nucleotide excision repair (NER) in mammalian cells is rapidly increasing, but far from complete. The aim of the experimental work described in this thesis is to enrich our understanding of the NER process, through the identification and characterization of gene(s) involved. Hereto, the UV-sensitivity of a Chinese hamster ovary (CHO) mutant cell line from rodent complementation group 6 (UV61) was restored to normal levels by means of DNAmediated gene transfer. The correcting human gene, designated ERCC6, has been isolated and characterized -as described in Chapters III to VI. Mutations in the gene appeared to be responsible for (the most common form of) the hereditary DNA repair disorder Cockayne's syndrome. A brief overview of (mammalian) NER is given in Chapter II. Finally, in Chapter VII the current data on the molecular mechanism of (mammalian) NER are discussed.