Ontology highlight
ABSTRACT:
SUBMITTER: Jaspers NG
PROVIDER: S-EPMC1821117 | biostudies-literature | 2007 Mar
REPOSITORIES: biostudies-literature
Jaspers Nicolaas G J NG Raams Anja A Silengo Margherita Cirillo MC Wijgers Nils N Niedernhofer Laura J LJ Robinson Andria Rasile AR Giglia-Mari Giuseppina G Giglia-Mari Giuseppina G Hoogstraten Deborah D Kleijer Wim J WJ Hoeijmakers Jan H J JH Vermeulen Wim W
American journal of human genetics 20070129 3
Nucleotide excision repair (NER) is a genome caretaker mechanism responsible for removing helix-distorting DNA lesions, most notably ultraviolet photodimers. Inherited defects in NER result in profound photosensitivity and the cancer-prone syndrome xeroderma pigmentosum (XP) or two progeroid syndromes: Cockayne and trichothiodystrophy syndromes. The heterodimer ERCC1-XPF is one of two endonucleases required for NER. Mutations in XPF are associated with mild XP and rarely with progeria. Mutations ...[more]