ArticleChromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology2012
Human ring chromosomes and small supernumerary marker chromosomes-do they have telomeres?
Article in Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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4 citing papers in PubMed, 7 citations in OpenAlex.
- Small supernumerary marker chromosomes derived from human chromosome 11.Frontiers in genetics · 2023Article
- The past, present, and future for constitutional ring chromosomes: A report of the international consortium for human ring chromosomes.HGG advances · 2022Review
- X-derived marker chromosome in patient with mosaic Turner syndrome and Dandy-Walker syndrome: a case report.Molecular cytogenetics · 2017Article
- Clinical and genetic characterization of basal cell carcinoma and breast cancer in a single patient.SpringerPlus · 2014Article
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Authors and funding
11 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Ring chromosomes and small supernumerary marker chromosomes (sSMC) are enigmatic types of derivative chromosomes, in which the telomeres are thought to play a crucial role in their formation and stabilization. Considering that there are only a few studies that evaluate the presence of telomeric sequences in ring chromosomes and on sSMC, here, we analyzed 14 ring chromosomes and 29 sSMC for the presence of telomeric sequences through fluorescence in situ hybridization (FISH). The results showed that ring chromosomes can actually fall into two groups: the ones with or without telomeres. Additionally, telomeric signals were detectable at both ends of centric and neocentric sSMC with inverted duplication shape, as well as in complex sSMC. Apart from that, generally both ring- and centric minute-shaped sSMC did not present telomeric sequences neither detectable by FISH nor by a second protein-directed immunohistochemical approach. However, the fact that telomeres are absent does not automatically mean that the sSMC has a ring shape, as often deduced in the previous literature. Overall, the results obtained by FISH studies directed against telomeres need to be checked carefully by other approaches.
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