alexa Cancer in xeroderma pigmentosum and related disorders of DNA repair.
Molecular Biology

Molecular Biology

Journal of Cytology & Histology

Author(s): Cleaver JE

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Abstract 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. This article was published in Nat Rev Cancer and referenced in Journal of Cytology & Histology

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