ArticleChromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology2014
Narrowing the localization of the region breakpoint in most frequent Robertsonian translocations.
Article in Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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21 citing papers in PubMed, 32 citations in OpenAlex.
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- Resolution of ring chromosomes, Robertsonian translocations, and complex structural variants from long-read sequencing and telomere-to-telomere assembly.American journal of human genetics · 2024Article
- A working model for the formation of Robertsonian chromosomes.Journal of cell science · 2024Article
- Gross Chromosomal Rearrangement at Centromeres.Biomolecules · 2023Review
- T2T-YAO: A Telomere-to-telomere Assembled Diploid Reference Genome for Han Chinese.Genomics, proteomics & bioinformatics · 2023Article
- Envisioning a new era: Complete genetic information from routine, telomere-to-telomere genomes.American journal of human genetics · 2023Review
- Dissection of a Down syndrome-associated trisomy to separate the gene dosage-dependent and -independent effects of an extra chromosome.Human molecular genetics · 2023Article
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- A draft genome of Drung cattle reveals clues to its chromosomal fusion and environmental adaptation.Communications biology · 2022Article
- Expanding studies of chromosome structure and function in the era of T2T genomics.Human molecular genetics · 2021Review
- Human Chromosome 18 and Acrocentrics: A Dangerous Liaison.International journal of molecular sciences · 2021Article
- Prevalence and Phenotypic Impact of Robertsonian Translocations.Molecular syndromology · 2021Review
- Review
- Genome Sequencing Explores Complexity of Chromosomal Abnormalities in Recurrent Miscarriage.American journal of human genetics · 2019Article
- Presence of 15p Marker D15Z1 on the Short Arm of Acrocentric Chromosomes is Associated with Aneuploid Offspring in Mexican Couples.International journal of molecular sciences · 2019Article
- Familiar unbalanced complex rearrangements involving 13 p-arm: description of two cases.Molecular cytogenetics · 2018Article
- Interstitial telomeric sites and Robertsonian translocations in species of Ipheion and Nothoscordum (Amaryllidaceae).Genetica · 2016Review
- One pedigree we all may have come from - did Adam and Eve have the chromosome 2 fusion?Molecular cytogenetics · 2016Article
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Despite that Robertsonian translocations (ROBs) are the most common chromosomal rearrangements in humans (1/1000 individuals), an exact breakpoint and the molecular mechanisms leading to their formation are still not well known. This is partly due to the fact that Human Genome Project did not provide any map or sequence for the acrocentric short arms. The main aim of our studies was to narrow the breakpoints in de novo arising and in familial cases of the most frequently occurring ROBs, using eight, previously not tested clones derived from 21p. Our results from PCR and FISH analysis showed that only the clones CR382285, CR382287, and a small fragment of CR382332 are retained in the examined ROBs. Moreover, interphase FISH on monochromosomal hybrids verified the orientation of studied clones in relation to centromeres of chromosomes 14 and 21. Given our results, we propose localization of the breakpoints in or nearby to clone CR382332. Summarizing, our results allowed to narrow the region where the breakpoints are localized and demonstrated that their position could be the same in all common ROBs.
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