Historical aspects of xeroderma pigmentosum and nucleotide excision repair

Abstract

The discovery that xeroderma pigmentosum was a sun-sensitive hereditary human disease that was deficient in DNA repair was made when research into the fundamental mechanisms of nucleotide excision repair was in its infancy. The linkage between DNA damage, DNA repair and human cancer stimulated an enormous subsequent growth of the field of DNA repair and the identification of other repair deficient diseases and other repair pathways. This growth has established DNA repair as a central factor for maintaining genomic stability and preventing cancer, neurodegenerative disease and aging. The study of DNA repair impacts many other areas including human genetics, signal transduction, protein structure, DNA-protein interactions, DNA replication and recombination, transcription, telomere maintenance, development, differentiation, ecology and evolution. © 2009 Springer New York.