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An Xpd mouse model for the combined xeroderma pigmentosum/Cockayne syndrome exhibiting both cancer predisposition and segmental progeria.

Authors: Andressoo, JO  Mitchell, JR  De Wit, J  Hoogstraten, D  Volker, M  Toussaint, W  Speksnijder, E  Beems, RB  Van Steeg, H  Jans, J  De Zeeuw, CI  Jaspers, NG  Raams, A  Lehmann, AR  Vermeulen, W  Hoeijmakers, JH  Van der Horst, GT 
Citation: Andressoo JO, etal., Cancer Cell. 2006 Aug;10(2):121-32.
Pubmed: (View Article at PubMed) PMID:16904611
DOI: Full-text: DOI:10.1016/j.ccr.2006.05.027

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.

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CRRD Object Information
CRRD ID: 10401080
Created: 2015-09-24
Species: All species
Last Modified: 2015-09-24
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.