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

2.50
Hdl Handle:
http://hdl.handle.net/10029/5565
Title:
An Xpd mouse model for the combined xeroderma pigmentosum/Cockayne syndrome exhibiting both cancer predisposition and segmental progeria.
Authors:
Andressoo, Jaan-Olle; Mitchell, 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
Abstract:
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.
Citation:
Cancer Cell 2006, 10(2):121-32
Issue Date:
1-Aug-2006
URI:
http://hdl.handle.net/10029/5565
DOI:
10.1016/j.ccr.2006.05.027
PubMed ID:
16904611
Type:
Article
Language:
en
ISSN:
1535-6108
Appears in Collections:
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Full metadata record

DC FieldValue Language
dc.contributor.authorAndressoo, Jaan-Olle-
dc.contributor.authorMitchell, James R-
dc.contributor.authorWit, Jan de-
dc.contributor.authorHoogstraten, Deborah-
dc.contributor.authorVolker, Marcel-
dc.contributor.authorToussaint, Wendy-
dc.contributor.authorSpeksnijder, Ewoud-
dc.contributor.authorBeems, Rudolf B-
dc.contributor.authorSteeg, Harry van-
dc.contributor.authorJans, Judith-
dc.contributor.authorZeeuw, Chris I de-
dc.contributor.authorJaspers, Nicolaas G J-
dc.contributor.authorRaams, Anja-
dc.contributor.authorLehmann, Alan R-
dc.contributor.authorVermeulen, Wim-
dc.contributor.authorHoeijmakers, Jan H J-
dc.contributor.authorHorst, Gijsbertus T J van der-
dc.date.accessioned2006-10-24T13:49:02Z-
dc.date.available2006-10-24T13:49:02Z-
dc.date.issued2006-08-01-
dc.identifier.citationCancer Cell 2006, 10(2):121-32en
dc.identifier.issn1535-6108-
dc.identifier.pmid16904611-
dc.identifier.doi10.1016/j.ccr.2006.05.027-
dc.identifier.urihttp://hdl.handle.net/10029/5565-
dc.description.abstractInborn 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.en
dc.format.extent782239 bytes-
dc.format.mimetypeapplication/pdf-
dc.language.isoenen
dc.titleAn Xpd mouse model for the combined xeroderma pigmentosum/Cockayne syndrome exhibiting both cancer predisposition and segmental progeria.en
dc.typeArticleen
dc.format.digYES-

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