nucleotide-excision repair diseases
Nucleotide-excision repair diseases exhibit cancer, complex developmental disorders and neurodegeneration. Cancer is the hallmark of xeroderma pigmentosum (XP), and neurodegeneration and developmental disorders are the hallmarks of Cockayne syndrome and trichothiodystrophy.
A distinguishing feature is that the DNA-repair or DNA-replication deficiencies of XP involve most of the genome, whereas the defects in CS are confined to actively transcribed genes.
Many of the proteins involved in repair are also components of dynamic multiprotein complexes, transcription factors, ubiquitylation cofactors and signal-transduction networks. Complex clinical phenotypes might therefore result from unanticipated effects on other genes and proteins.
Features
ERCCs
Pathology (nucelotide excision repair diseases)
In these diseases, the nucleotide-excision repair pathway (NER) does not remove UV-induced DNA lesions efficiently.
xeroderma pigmentosum
trichothiodystrophy
Cockayne disease
References
Cleaver JE. Cancer in xeroderma pigmentosum and related disorders of DNA repair. Nat Rev Cancer. 2005 Jul;5(7):564-73. PMID: #16069818#
Bergmann E, Egly JM. Trichothiodystrophy, a transcription syndrome. Trends Genet. 2001 May;17(5):279-86. PMID: #11335038#
de Boer J, Hoeijmakers JH. Nucleotide excision repair and human syndromes. Carcinogenesis. 2000 Mar;21(3):453-60. PMID: #10688865#