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DNA repair diseases

Monday 20 June 2005

Human genetic diseases can be caused by defective DNA repair mechanisms. This was first discovered by Cleaver (1968), who showed that cells from patients with xeroderma pigmentosum (XP) were defective for the ability to remove ultraviolet (UV)-induced lesions from their genome.


- 1. Nucleotide excision repair diseases (NER diseases)

Lesions that cause gross distortions on the DNA double helix, such as pyrimidine dimers induced by UV irradiation, are recognized and excised from DNA by a complex mechanism known as nucleotide excision repair.

Three human genetic disorders are associated with defects on nucleotide excision repair:

- xeroderma pigmentosum
- Cockayne syndrome
- trichothiodystrophy


- Cleaver JE. Cancer in xeroderma pigmentosum and related disorders of DNA repair. Nat Rev Cancer. 2005 Jul;5(7):564-73. PMID: 16069818

- Hales BF. DNA repair disorders causing malformations. Curr Opin Genet Dev. 2005 Jun;15(3):234-40. PMID: 15917197

- Human DNA repair diseases: From genome instability to cancer. Carlos R. Machado and Carlos F.M. Menck. Brazilian Journal of Genetics. ISSN 01008455