Publication Date:
2012-10-20
Description:
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. Content Type Journal Article Pages 1-11 DOI 10.1007/s10577-012-9316-x Authors Roberta Santos Guilherme, Institute of Human Genetics, Jena University Hospital, Friedrich Schiller University, Kollegiengasse 10, 07743 Jena, Germany Elisabeth Klein, Institute of Human Genetics, Jena University Hospital, Friedrich Schiller University, Kollegiengasse 10, 07743 Jena, Germany Claudia Venner, Institute of Human Genetics, Jena University Hospital, Friedrich Schiller University, Kollegiengasse 10, 07743 Jena, Germany Ahmed B. Hamid, Institute of Human Genetics, Jena University Hospital, Friedrich Schiller University, Kollegiengasse 10, 07743 Jena, Germany Samarth Bhatt, Institute of Human Genetics, Jena University Hospital, Friedrich Schiller University, Kollegiengasse 10, 07743 Jena, Germany Maria Isabel Melaragno, Department of Morphology and Genetics, Universidade Federal de São Paulo, Rua Botucatu 740, 04023-900 São Paulo, SP, Brazil Marianne Volleth, Institut für Humangenetik, Otto-von-Guericke-Universität Magdeburg, Leipziger Str. 44, 39120 Magdeburg, Germany Anna Polityko, National Medical Center, ‘Mother and Child’, Orlovskaya Str. 66, 220053 Minsk, Belarus Anna Kulpanovich, National Medical Center, ‘Mother and Child’, Orlovskaya Str. 66, 220053 Minsk, Belarus Nadezda Kosyakova, Institute of Human Genetics, Jena University Hospital, Friedrich Schiller University, Kollegiengasse 10, 07743 Jena, Germany Thomas Liehr, Institute of Human Genetics, Jena University Hospital, Friedrich Schiller University, Kollegiengasse 10, 07743 Jena, Germany Journal Chromosome Research Online ISSN 1573-6849 Print ISSN 0967-3849
Print ISSN:
0967-3849
Electronic ISSN:
1573-6849
Topics:
Biology
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