Broad segmental progeroid changes in short-lived Ercc1−/Δ7 mice

نویسندگان

  • Martijn E.T. Dollé
  • Raoul V. Kuiper
  • Marianne Roodbergen
  • Joke Robinson
  • Sisca de Vlugt
  • Susan W.P. Wijnhoven
  • Rudolf B. Beems
  • Liset de la Fonteyne
  • Piet de With
  • Ingrid van der Pluijm
  • Laura J. Niedernhofer
  • Paul Hasty
  • Jan Vijg
  • Jan H.J. Hoeijmakers
  • Harry van Steeg
چکیده

Genome maintenance is considered a prime longevity assurance mechanism as apparent from many progeroid human syndromes that are caused by genome maintenance defects. The ERCC1 protein is involved in three genome maintenance systems: nucleotide excision repair, interstrand cross-link repair, and homologous recombination. Here we describe in-life and post-mortem observations for a hypomorphic Ercc1 variant, Ercc1(-/Δ7), which is hemizygous for a single truncated Ercc1 allele, encoding a protein lacking the last seven amino acids. Ercc1(-/Δ7) mice were much smaller and median life span was markedly reduced compared to wild-type siblings: 20 and 118 weeks, respectively. Multiple signs and symptoms of aging were found to occur at an accelerated rate in the Ercc1(-/Δ7) mice as compared to wild-type controls, including a decline in weight of both whole body and various organs, numerous histopathological lesions, and immune parameters. Together they define a segmental progeroid phenotype of the Ercc1(-/Δ7) mouse model.

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عنوان ژورنال:

دوره 1  شماره 

صفحات  -

تاریخ انتشار 2011