ArticleAmerican journal of human genetics2000
Characterization of terminal deletions at 7q32 and 22q13.3 healed by De novo telomere addition.
Article in American journal of human genetics, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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Who cites it
25 citing papers in PubMed, 59 citations in OpenAlex.
- ATR blocks telomerase from converting DNA breaks into telomeres.Science (New York, N.Y.) · 2024Article
- Centromere scission drives chromosome shuffling and reproductive isolation.Proceedings of the National Academy of Sciences of the United States of America · 2020Article
- Telomeres and genomic evolution.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2018Review
- Terminal 18q deletions are stabilized by neotelomeres.Molecular cytogenetics · 2015Article
- Regulation of telomere addition at DNA double-strand breaks.Chromosoma · 2013Review
- Human subtelomeric copy number gains suggest a DNA replication mechanism for formation: beyond breakage-fusion-bridge for telomere stabilization.Human genetics · 2012Article
- Multiple pathways suppress telomere addition to DNA breaks in the Drosophila germline.Genetics · 2012Article
- Telomere dysfunction and chromosome instability.Mutation research · 2012Review
- Article
- De novo 7p partial trisomy characterized by subtelomeric FISH and whole-genome array in a girl with mental retardation.Molecular cytogenetics · 2011Article
- Telomere loss as a mechanism for chromosome instability in human cancer.Cancer research · 2010Review
- Further delineation of nonhomologous-based recombination and evidence for subtelomeric segmental duplications in 1p36 rearrangements.Human genetics · 2009Article
- Molecular mechanisms for subtelomeric rearrangements associated with the 9q34.3 microdeletion syndrome.Human molecular genetics · 2009Article
- A novel L1 retrotransposon marker for HeLa cell line identification.BioTechniques · 2009Article
- Telomerase-dependent and -independent chromosome healing in mouse embryonic stem cells.DNA repair · 2008Article
- Array based characterization of a terminal deletion involving chromosome subband 15q26.2: an emerging syndrome associated with growth retardation, cardiac defects and developmental delay.BMC medical genetics · 2008Article
- Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome.Journal of medical genetics · 2006Article
- Chromosome loops arising from intrachromosomal tethering of telomeres occur at high frequency in G1 (non-cycling) mitotic cells: Implications for telomere capture.Cell & chromosome · 2004Article
- Article
- Monosomy 1p36 breakpoints indicate repetitive DNA sequence elements may be involved in generating and/or stabilizing some terminal deletions.Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 2004Article
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We have developed a strategy for the isolation of terminal deletion breakpoints from any chromosome that has been healed by de novo addition of a telomere repeat array. Breakpoints at 7q32 and 22q13.3 have been isolated and characterized in two patients (patients FB336R and AJ). Both truncated chromosomes have been healed by the addition of a novel telomere, with such an addition possibly mediated by the enzyme telomerase. The breakpoint at 7q32 in patient FB336R shows a structure similar to that of breakpoints on other chromosomes that have been healed in this way. However, the breakpoint at 22q13.3 in patient AJ has 10 nucleotides of unknown origin inserted between the sequence unique to chromosome 22q and the start of the telomere repeat array. This unusual structure is suggestive of a multistep healing event resulting in de novo telomere addition at this breakpoint, and possible mechanisms are discussed.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.