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image/svg+xml Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao Closed Access logo, derived from PLoS Open Access logo. This version with transparent background. http://commons.wikimedia.org/wiki/File:Closed_Access_logo_transparent.svg Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao
Nature Medicine
Article . 2005 . Peer-reviewed
License: Springer TDM
Data sources: Crossref
Nature Medicine
Article . 2005
HKU Scholars Hub
Article . 2011
Data sources: HKU Scholars Hub
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Genomic instability in laminopathy-based premature aging

Authors: Chen, J; LópezOtín, C; Chen, DJ; Li, KM; Tjia, WM; Wang, J; Pei, D; +14 Authors

Genomic instability in laminopathy-based premature aging

Abstract

Premature aging syndromes often result from mutations in nuclear proteins involved in the maintenance of genomic integrity. Lamin A is a major component of the nuclear lamina and nuclear skeleton. Truncation in lamin A causes Hutchinson-Gilford progerial syndrome (HGPS), a severe form of early-onset premature aging. Lack of functional Zmpste24, a metalloproteinase responsible for the maturation of prelamin A, also results in progeroid phenotypes in mice and humans. We found that Zmpste24-deficient mouse embryonic fibroblasts (MEFs) show increased DNA damage and chromosome aberrations and are more sensitive to DNA-damaging agents. Bone marrow cells isolated from Zmpste24-/- mice show increased aneuploidy and the mice are more sensitive to DNA-damaging agents. Recruitment of p53 binding protein 1 (53BP1) and Rad51 to sites of DNA lesion is impaired in Zmpste24-/- MEFs and in HGPS fibroblasts, resulting in delayed checkpoint response and defective DNA repair. Wild-type MEFs ectopically expressing unprocessible prelamin A show similar defects in checkpoint response and DNA repair. Our results indicate that unprocessed prelamin A and truncated lamin A act dominant negatively to perturb DNA damage response and repair, resulting in genomic instability which might contribute to laminopathy-based premature aging.

Keywords

Aging, DNA Repair, Chromosomal Proteins, Non-Histone, DNA-Binding Proteins - genetics - metabolism, Protein Precursors - genetics - metabolism, Bone Marrow Cells, Nuclear Proteins - genetics - metabolism, Genomic Instability, Histones, Aging, Premature - genetics, Mice, DNA Repair - physiology, Lamin Type A - genetics - metabolism, Membrane Proteins - genetics - metabolism, Bone Marrow Cells - physiology - radiation effects, Animals, Humans, Intracellular Signaling Peptides and Proteins - genetics - metabolism, Cellular Senescence, DNA Damage - genetics, Chromosome Aberrations, DNA - genetics, Intracellular Signaling Peptides and Proteins, Membrane Proteins, Metalloendopeptidases, Aging, Premature, Non-Histone, Fibroblasts - pathology - radiation effects, DNA, Fibroblasts, Lamin Type A, Phosphoproteins - genetics - metabolism, Mice, Mutant Strains, Premature - genetics, Chromosomal Proteins, Mutant Strains, DNA-Binding Proteins, Cell Aging - genetics, Metalloendopeptidases - genetics - metabolism, Gamma Rays, Histones - genetics - metabolism - radiation effects, Rad51 Recombinase, DNA Damage

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    Top 1%
Powered by OpenAIRE graph
citations
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
586
Top 1%
Top 1%
Top 1%