The xeroderma pigmentosum (XP) group D (XPD) gene encodes a DNA helicase that is a subunit of the transcription factor IIH complex, involved both in nucleotide excision repair of UV-induced DNA damage and in basal transcription initiation. Point mutations in the XPD gene lead either to the cancer-prone repair syndrome XP, sometimes in combination with a second repair condition; Cockayne syndrom...

Cells from patients with the hereditary disorder Cockayne's syndrome and from the sun-sensitive individual, 11961, are sensitive to the lethal effects of ultraviolet light (UV) but have no detectable defect in either excisionor postreplication repair after UV irradiation. In normal cells and in Cockayne hétéro zygotes, UV causes a depression in the rate of DNA-replicative synthesis followed b...

A Novel DNA Repair Disorder With Thrombocytopenia, Nephrosis, and Features Overlapping Cockayne Syndrome Elizabeth Forsythe, Ruth Wild, Gabrielle Sellick, Richard S. Houlston, Alan R. Lehmann, and Emma Wakeling* Kennedy Galton Centre, North West Thames Regional Genetics Service, The North West London Hospitals NHS Trust, Middlesex, United Kingdom Section of Cancer Genetics, Institute of Cancer ...

Several autosomal recessive diseases are associated with apparent DNA repair defects in cell culture. It seemed likely that a defect in excision repair reported for ataxia telangiectasia cells might reflect a lack of apurinic endonuclease activity. We report here normal levels of apurinic endonuclease activity in extracts of cell lines derived from patients with ataxia telangiectasia, xeroderma...

In the past years, it has become increasingly evident that basal metabolic processes within the cell are intimately linked and influenced by one another. One such link that recently has attracted much attention is the close interplay between nucleotide excision DNA repair and transcription. This is illustrated both by the preferential repair of the transcribed strand of active genes (a phenomen...

BACKGROUND Cockayne syndrome is an autosomal recessive, heterogeneous syndrome with classical features, including short stature, microcephaly, developmental delay, neuropathy, and photosensitivity. New genomic approaches offer improved molecular diagnostic potential. METHODS Whole-exome sequencing was employed to study a consanguineous extended family with severe short stature and variable pr...