Increased telomere fragility and fusions resulting from TRF1 deficiency lead to degenerative pathologies and increased cancer in mice.

Journal article

The telomere repeat-binding factor 1 (TERF1, referred to hereafter as TRF1) is a component of mammalian telomeres whose role in telomere biology and disease has remained elusive. Here, we report on cells and mice conditionally deleted for TRF1. TRF1-deleted mouse embryonic fibroblasts (MEFs) show rapid induction of senescence, which is concomitant with abundant telomeric gamma-H2AX foci and activation of the ATM/ATR downstream checkpoint kinases CHK1 and CHK2. DNA damage foci are rescued by b...

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Authors: Martínez, P; Thanasoula, M; Muñoz, P; Liao, C; Tejera, A

• Publication status: Published
• Journal: Genes and development
• Volume: 23
• Issue: 17
• Pages: 2060-2075
• Publication date: 2009-09-01
• DOI: 10.1101/gad.543509
• EISSN: 1549-5477
• ISSN: 0890-9369
• Language: English
• Keywords: Epidermis; Chromosome Fragility; Telomeric Repeat Binding Protein 1; Tumor Suppressor Protein p53; Fibroblasts; Aging; Mutation; Neoplasm Proteins; Mice, Knockout; Skin Neoplasms; Protein Deficiency; Cell Cycle; Cell Line; Cyclin-Dependent Kinase Inhibitor p21; Skin Diseases; Mice; Animals; Telomere; Neoplasms; DNA Damage; Hyperpigmentation; E2F1 Transcription Factor; Gene Expression Regulation; Stem Cells