An Xpd mouse model for the combined xeroderma pigmentosum/Cockayne syndrome exhibiting both cancer predisposition and segmental progeria.
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Mitchell, James R
Wit, Jan de
Beems, Rudolf B
Steeg, Harry van
Zeeuw, Chris I de
Jaspers, Nicolaas G J
Lehmann, Alan R
Hoeijmakers, Jan H J
Horst, Gijsbertus T J van der
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TitleAn Xpd mouse model for the combined xeroderma pigmentosum/Cockayne syndrome exhibiting both cancer predisposition and segmental progeria.
PubliekssamenvattingInborn 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.
- Mouse model for the DNA repair/basal transcription disorder trichothiodystrophy reveals cancer predisposition.
- Authors: de Boer J, van Steeg H, Berg RJ, Garssen J, de Wit J, van Oostrum CT, Beems RB, van der Horst GT, van Kreijl CF, de Gruijl FR, Bootsma D, Hoeijmakers JH, Weeda G
- Issue date: 1999 Jul 15
- Comparative study of nucleotide excision repair defects between XPD-mutated fibroblasts derived from trichothiodystrophy and xeroderma pigmentosum patients.
- Authors: Nishiwaki T, Kobayashi N, Iwamoto T, Yamamoto A, Sugiura S, Liu YC, Sarasin A, Okahashi Y, Hirano M, Ueno S, Mori T
- Issue date: 2008 Dec 1
- Restoring DNA repair capacity of cells from three distinct diseases by XPD gene-recombinant adenovirus.
- Authors: Armelini MG, Muotri AR, Marchetto MC, de Lima-Bessa KM, Sarasin A, Menck CF
- Issue date: 2005 Apr
- The cancer-free phenotype in trichothiodystrophy is unrelated to its repair defect.
- Authors: Berneburg M, Clingen PH, Harcourt SA, Lowe JE, Taylor EM, Green MH, Krutmann J, Arlett CF, Lehmann AR
- Issue date: 2000 Jan 15
- Tissue specific mutagenic and carcinogenic responses in NER defective mouse models.
- Authors: Wijnhoven SW, Hoogervorst EM, de Waard H, van der Horst GT, van Steeg H
- Issue date: 2007 Jan 3