ArticleChromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology2004
Monosomy 1p36 breakpoints indicate repetitive DNA sequence elements may be involved in generating and/or stabilizing some terminal deletions.
Article in Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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13 citing papers in PubMed, 27 citations in OpenAlex.
- DNA methylation dysregulation patterns in the 1p36 region instability.Journal of applied genetics · 2025Article
- Characterization of Chromosomal Breakpoints in 12 Cases with 8p Rearrangements Defines a Continuum of Fragility of the Region.International journal of molecular sciences · 2022Article
- Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3.Human molecular genetics · 2015Article
- Trisomy Xp and partial tetrasomy Xq resulting from gain of a rearranged X chromosome in a female fetus: pathogenic or not?Molecular cytogenetics · 2015Article
- Terminal 18q deletions are stabilized by neotelomeres.Molecular cytogenetics · 2015Article
- 1p36.32 rearrangements and the role of PI-PLC η2 in nervous tumours.Journal of neuro-oncology · 2011Article
- Genomic profile of copy number variants on the short arm of human chromosome 8.European journal of human genetics : EJHG · 2010Article
- Molecular mechanisms for subtelomeric rearrangements associated with the 9q34.3 microdeletion syndrome.Human molecular genetics · 2009Article
- 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
- 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
- Inversion polymorphisms and non-contiguous terminal deletions: the cause and the (unpredicted) effect of our genome architecture.Journal of medical genetics · 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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3 authors at 2 institutions in 1 country.
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Abstract
Monosomy 1p36 is the most commonly observed terminal deletion syndrome in humans. Our previous molecular studies on a large cohort of subjects suggest that monosomy 1p36 can result from a variety of chromosomal rearrangements including terminal truncations, interstitial deletions, derivative chromosomes, inverted duplications, and complex rearrangements. However, the mechanism(s) by which rearrangements of 1p36 are generated and/or stabilized is not understood. Sequence analysis of breakpoint junctions may provide valuable clues to the underlying mechanisms of many chromosomal aberrations. In this report, we analyze the breakpoints at the DNA-sequence level in four subjects with variable-sized deletions of 1p36. All four breakpoints fall within repetitive DNA-sequence elements (LINEs, SINEs, etc). This suggests that repetitive DNA-sequence elements may play an important role in generating and/or stabilizing terminal deletions of 1p36. Mechanisms by which repetitive elements may be involved in the process of terminal deletion formation and stabilization are discussed.
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