An Xpd mouse model for the combined xeroderma pigmentosum/Cockayne syndrome exhibiting both cancer predisposition and segmental progeria.
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Authors
Andressoo, Jaan-OlleMitchell, James R
Wit, Jan de
Hoogstraten, Deborah
Volker, Marcel
Toussaint, Wendy
Speksnijder, Ewoud
Beems, Rudolf B
Steeg, Harry van
Jans, Judith
Zeeuw, Chris I de
Jaspers, Nicolaas G J
Raams, Anja
Lehmann, Alan R
Vermeulen, Wim
Hoeijmakers, Jan H J
Horst, Gijsbertus T J van der
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ArticleLanguage
en
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An Xpd mouse model for the combined xeroderma pigmentosum/Cockayne syndrome exhibiting both cancer predisposition and segmental progeria.Publiekssamenvatting
Inborn defects in nucleotide excision DNA repair (NER) can paradoxically result in elevated cancer incidence (xeroderma pigmentosum [XP]) or segmental progeria without cancer predisposition (Cockayne syndrome [CS] and trichothiodystrophy [TTD]). We report generation of a knockin mouse model for the combined disorder XPCS with a G602D-encoding mutation in the Xpd helicase gene. XPCS mice are the most skin cancer-prone NER model to date, and we postulate an unusual NER dysfunction that is likely responsible for this susceptibility. XPCS mice also displayed symptoms of segmental progeria, including cachexia and progressive loss of germinal epithelium. Like CS fibroblasts, XPCS and TTD fibroblasts from human and mouse showed evidence of defective repair of oxidative DNA lesions that may underlie these segmental progeroid symptoms.PMID
16904611ae974a485f413a2113503eed53cd6c53
10.1016/j.ccr.2006.05.027
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