Cancer in xeroderma pigmentosum and related disorders of DNA repair.
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.
Cleaver
James E
JE
Auerback Melanoma Laboratory, Room N431, UCSF Cancer Center, University of California, 94143-0808, USA. jcleaver@cc.ucsf.edu
D002648:Child; D003057:Cockayne Syndrome / Q000235:genetics / Q000503:physiopathology; D004260:DNA Repair / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics; D002658:Developmental Disabilities / Q000235:genetics; D020271:Heredodegenerative Disorders, Nervous System / Q000235:genetics; D006801:Humans; D009369:Neoplasms / Q000209:etiology / Q000235:genetics* / Q000503:physiopathology; D014158:Transcription, Genetic / Q000235:genetics; D014983:Xeroderma Pigmentosum / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D051760:Xeroderma Pigmentosum Group A Protein
D004268:DNA-Binding Proteins; C497314:XPA protein, human; D051760:Xeroderma Pigmentosum Group A Protein