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.
Types
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
References
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