ArticleGenome research2008
Unexpected complexity at breakpoint junctions in phenotypically normal individuals and mechanisms involved in generating balanced translocations t(1;22)(p36;q13).
Article in Genome research, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 101 citations in OpenAlex.
- DNA methylation dysregulation patterns in the 1p36 region instability.Journal of applied genetics · 2025Article
- Full characterization of unresolved structural variation through long-read sequencing and optical genome mapping.Scientific reports · 2024Article
- Breakpoint mapping and haplotype analysis of translocation t(1;12)(q43;q21.1) in two apparently independent families with vascular phenotypes.Molecular genetics & genomic medicine · 2018Article
- Unrevealed mosaicism in the next-generation sequencing era.Molecular genetics and genomics : MGG · 2016Review
- Familial chromosomal translocation X; 22 associated with infertility and recurrent X mosaicism.Molecular cytogenetics · 2016Article
- Recurrence risks for different pregnancy outcomes and meiotic segregation analysis of spermatozoa in carriers of t(1;11)(p36.22;q12.2).Journal of human genetics · 2014Article
- Article
- Nonallelic homologous recombination between retrotransposable elements is a driver of de novo unbalanced translocations.Genome research · 2013Article
- Copy-number gains of HUWE1 due to replication- and recombination-based rearrangements.American journal of human genetics · 2012Article
- A recurrent translocation is mediated by homologous recombination between HERV-H elements.Molecular cytogenetics · 2012Article
- Diverse mutational mechanisms cause pathogenic subtelomeric rearrangements.Human molecular genetics · 2011Article
- Large duplications at reciprocal translocation breakpoints that might be the counterpart of large deletions and could arise from stalled replication bubbles.Genome research · 2011Article
- Non-B DNA-forming sequences and WRN deficiency independently increase the frequency of base substitution in human cells.The Journal of biological chemistry · 2011Article
- Recurrent interstitial 1p36 deletions: Evidence for germline mosaicism and complex rearrangement breakpoints.American journal of medical genetics. Part A · 2010Article
- Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability.American journal of human genetics · 2010Article
- Genome-wide mapping and assembly of structural variant breakpoints in the mouse genome.Genome research · 2010Article
- Mechanisms of change in gene copy number.Nature reviews. Genetics · 2009Review
- Complex human chromosomal and genomic rearrangements.Trends in genetics : TIG · 2009Review
- Further delineation of nonhomologous-based recombination and evidence for subtelomeric segmental duplications in 1p36 rearrangements.Human genetics · 2009Article
Corrections and comments
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Authors and funding
8 authors at 4 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Approximately one in 500 individuals carries a reciprocal translocation. Balanced translocations are usually associated with a normal phenotype unless the translocation breakpoints disrupt a gene(s) or cause a position effect. We investigated breakpoint junctions at the sequence level in phenotypically normal balanced translocation carriers. Eight breakpoint junctions derived from four nonrelated subjects with apparently balanced translocation t(1;22)(p36;q13) were examined. Additions of nucleotides, deletions, duplications, and a triplication identified at the breakpoints demonstrate high complexity at the breakpoint junctions and indicate involvement of multiple mechanisms in the DNA breakage and repair process during translocation formation. Possible detailed nonhomologous end-joining scenarios for t(1;22) cases are presented. We propose that cryptic imbalances in phenotypically normal, balanced translocation carriers may be more common than currently appreciated.
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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.