ArticleHuman genetics2004
Translocation breakpoint mapping and sequence analysis in three monosomy 1p36 subjects with der(1)t(1;1)(p36;q44) suggest mechanisms for telomere capture in stabilizing de novo terminal rearrangements.
Article in Human genetics, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 1 of them a synthesis that pooled it.
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Who cites it
22 citing papers in PubMed, 1 synthesis or guideline pooled it.
- American College of Medical Genetics guideline on the cytogenetic evaluation of the individual with developmental delay or mental retardation.Genetics in medicine : official journal of the American College of Medical GeneticsGuideline
- DNA methylation dysregulation patterns in the 1p36 region instability.Journal of applied genetics · 2025Article
- Atlas of telomeric repeat diversity in Arabidopsis thaliana.Genome biology · 2024Article
- Identification of small-sized intrachromosomal segments at the ends of INV-DUP-DEL patterns.Journal of human genetics · 2023Article
- Characterization of Chromosomal Breakpoints in 12 Cases with 8p Rearrangements Defines a Continuum of Fragility of the Region.International journal of molecular sciences · 2022Article
- Breakpoint delineation in 5p- patients leads to new insights about microcephaly and the typical high-pitched cry.Molecular genetics & genomic medicine · 2020Article
- Terminal 18q deletions are stabilized by neotelomeres.Molecular cytogenetics · 2015Article
- Human subtelomeric copy number gains suggest a DNA replication mechanism for formation: beyond breakage-fusion-bridge for telomere stabilization.Human genetics · 2012Article
- Diverse mutational mechanisms cause pathogenic subtelomeric rearrangements.Human molecular genetics · 2011Article
- Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome.PLoS genetics · 2011Article
- Recurrence, submicroscopic complexity, and potential clinical relevance of copy gains detected by array CGH that are shown to be unbalanced insertions by FISH.Genome research · 2011Article
- Recurrent interstitial 1p36 deletions: Evidence for germline mosaicism and complex rearrangement breakpoints.American journal of medical genetics. Part A · 2010Article
- Genomic profile of copy number variants on the short arm of human chromosome 8.European journal of human genetics : EJHG · 2010Article
- Disorders caused by chromosome abnormalities.The application of clinical genetics · 2010Article
- Further delineation of nonhomologous-based recombination and evidence for subtelomeric segmental duplications in 1p36 rearrangements.Human genetics · 2009Article
- Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14.Journal of medical genetics · 2007Article
- Molecular characterisation of a mosaicism with a complex chromosome rearrangement: evidence for coincident chromosome healing by telomere capture and neo-telomere formation.Journal of medical genetics · 2007Article
- Identification of sequence motifs at the breakpoint junctions in three t(1;9)(p36.3;q34) and delineation of mechanisms involved in generating balanced translocations.Human genetics · 2006Article
- A complete physical map of a wild beet (Beta procumbens) translocation in sugar beet.Molecular genetics and genomics : MGG · 2006Article
- Characterization of a complex rearrangement with interstitial deletions and inversion on human chromosome 1.Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 2006Article
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4 authors.
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Abstract
Monosomy 1p36 results from a variety of chromosome rearrangements, including terminal deletions, interstitial deletions, derivative chromosomes, and complex rearrangements. Our previous molecular studies on a large cohort of monosomy 1p36 subjects suggest that a significant percentage of terminal deletions of 1p36 are stabilized by the acquisition of telomeric sequences from other chromosome ends, forming derivative chromosomes (i.e., "telomere capture"). However, the molecular mechanism(s) that results in and/or stabilizes terminal deletions of 1p36 by telomere capture is poorly understood. In this report, we have mapped the translocation breakpoints in three subjects with der(1)t(1;1)(p36;q44) chromosomes by fluorescence in situ hybridization (FISH). These results indicate that the breakpoint locations are variable in all three subjects, with no common 1p deletion or 1q translocation breakpoints. In addition, sequence analysis of the 1p and 1q breakpoint-containing clones did not identify homologous sequences or low-copy repeats in the breakpoint regions, suggesting that nonallelic homologous recombination did not play a role in mediating these rearrangements. Microsatellite marker analysis indicates that two of the three derivative chromosomes were formed by intra-chromosomal rearrangements. These data are consistent with a number of recent reports in other model organisms that suggest break-induced replication at the site of a double-strand break may act as a mechanism of telomere capture by generating nonreciprocal translocations from terminally deleted chromosomes. Alternative models are also discussed.
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