Repair protein persistence at DNA lesions characterizes XPF defect with Cockayne syndrome features
نویسندگان
چکیده
منابع مشابه
NEW SYNDROME A Novel DNA Repair Disorder With Thrombocytopenia, Nephrosis, and Features Overlapping Cockayne Syndrome
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 ...
متن کاملA novel DNA repair disorder with thrombocytopenia, nephrosis and features overlapping Cockayne syndrome.
We report on four siblings with Cockayne-like syndrome with thrombocytopenia and nephrotic syndrome. The parents were healthy and consanguineous, consistent with an autosomal recessive mode of disease inheritance. UV irradiation of fibroblasts revealed an intermediate sensitivity between normal and standard Cockayne syndrome (CS) control cells. A genome-wide linkage scan conducted using Affymet...
متن کاملPoly(ADP-ribosyl)ation accelerates DNA repair in a pathway dependent on Cockayne syndrome B protein.
Activation of poly(ADP-ribose)polymerases 1 and 2 (PARP-1 and PARP-2) is one of the earliest responses of mammalian cells to DNA damage by numerous genotoxic agents. We have analysed the influence of PARP inhibition, either achieved by over-expression of the DNA binding domain of PARP-1 or by treatment with 3,4-dihydro-5-[4-(1-piperidinyl)butoxyl]-1(2H)-isoquinolinone, on the repair of single-s...
متن کاملCockayne syndrome group B protein regulates DNA double-strand break repair and checkpoint activation.
Mutations of CSB account for the majority of Cockayne syndrome (CS), a devastating hereditary disorder characterized by physical impairment, neurological degeneration and segmental premature aging. Here we report the generation of a human CSB-knockout cell line. We find that CSB facilitates HR and represses NHEJ. Loss of CSB or a CS-associated CSB mutation abrogating its ATPase activity impairs...
متن کاملCockayne syndrome: defective repair of transcription?
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...
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ژورنال
عنوان ژورنال: Nucleic Acids Research
سال: 2018
ISSN: 0305-1048,1362-4962
DOI: 10.1093/nar/gky774