Genomic instability in laminopathy-based premature aging
Genomic instability in laminopathy-based premature aging
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.
- Mayo Clinic United States
- University of Minnesota Morris United States
- University of Minnesota United States
- The University of Texas Southwestern Medical Center United States
- University of Hong Kong (香港大學) China (People's Republic of)
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
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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