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author = "Broughton, Bernard C."
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Found 3 documents, displaying page 1 of 1

Domain structure, localization, and function of DNA polymerase η, defective in xeroderma pigmentosum variant cells

Author(s) : Kannouche, Patricia , Broughton, Bernard C. , Volker, Marcel , Hanaoka, Fumio , Mullenders, Leon H.F. , Lehmann, Alan R.
Description : DNA polymerase η carries out translesion synthesis past UV photoproducts and is deficient in xeroderma pigmentosum (XP) variants. We report that polη is mostly localized uniformly in the nucleus but is associated with replication foci during S phase. Following treatment of cells with UV irradiation ...
Repository : Europe PubMed Central
Language(s) : English

Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene

Author(s) : Taylor, Elaine M. , Broughton, Bernard C. , Botta, Elena , Stefanini, Miria , Sarasin, Alain , Jaspers, Nicolaas G. J.
Description : The xeroderma pigmentosum group D (XPD) protein has a dual function, both in nucleotide excision repair of DNA damage and in basal transcription. Mutations in the XPD gene can result in three distinct clinical phenotypes, XP, trichothiodystrophy (TTD), and XP with Cockayne syndrome. To determine if ...
Repository : Europe PubMed Central
Language(s) : English

Molecular analysis of mutations in DNA polymerase η in xeroderma pigmentosum-variant patients

Author(s) : Broughton, Bernard C. , Cordonnier, Agnes , Kleijer, Wim J. , Jaspers, Nicolaas G. J. , Fawcett, Heather , Raams, Anja
Description : Xeroderma pigmentosum variant (XP-V) cells are deficient in their ability to synthesize intact daughter DNA strands after UV irradiation. This deficiency results from mutations in the gene encoding DNA polymerase η, which is required for effecting translesion synthesis (TLS) past UV photoproducts. W...
Repository : Europe PubMed Central
Language(s) : English
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Found 3 documents, displaying page 1 of 1