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Centromeric association of small supernumerary marker chromosomes with their sister-chromosomes detected by three dimensional molecular cytogenetics.

Klein E, Manvelyan M, Simonyan I, Hamid AB, Guilherme RS, Liehr T, Karamysheva T - Mol Cytogenet (2012)

Bottom Line: This was true in B- and T-lymphocytes as well as in skin fibroblasts.Overall, there is a kind of "attraction" between an sSMC and one of its homologous sister chromosomes.This seems to be transmitted by the euchromatic part of the sSMC rather than its heterochromatic one.

View Article: PubMed Central - HTML - PubMed

Affiliation: Jena University Hospital, Friedrich Schiller University, Institute of Human Genetics, Kollegiengasse 10, D-07743 Jena, Germany. i8lith@mti.uni-jena.de.

ABSTRACT

Background: Small supernumerary marker chromosomes (sSMC) are detected in 0.043% of general population and can be characterized for their chromosomal origin, genetic content and shape by molecular cytogenetic approaches. Even though recently progress was achieved towards genotype-phenotype-correlations of sSMC, nothing is known on the influence that an additional derivative extra chromosome has on the nuclear architecture.

Results: Here we present the first three-dimensional interphase fluorescence in situ hybridization (FISH) studies for the nuclear architecture of sSMC. It could be shown that sSMC derived from chromosomes 15, 16 or 18 preferentially colocalized with one of their corresponding sister chromosomes. This was true in B- and T-lymphocytes as well as in skin fibroblasts. Additionally, a case with a complex sSMC with a karyotype 47,XY,+der(18)t(8;18)(8p23.2 ~ 23.1;18q11.1) was studied. Here the sSMC co-localized with one homologous chromosome 8 instead of 18.

Conclusion: Overall, there is a kind of "attraction" between an sSMC and one of its homologous sister chromosomes. This seems to be transmitted by the euchromatic part of the sSMC rather than its heterochromatic one.

No MeSH data available.


Related in: MedlinePlus

Nuclei with and without sSMC(15) derived from T-lymphocytes. A) Representative interphase nucleus for case 1. In the figure the position of the sSMC is highlighted (arrowhead) and the pseudocolors together with the applied probes are given. One chromosomes 19 is central, the other peripheral positioned, both chromosomes 15 have similar positions as chromosomes 19. The sSMC is colocalized with the chromosomes 15 and 19 in central position. B) Representative interphase nucleus of case 6 using probe set for case 1. Chromosomes 19 are in close together and central, chromosomes 15 are in central to intermediate positions. N.B. Animations of the corresponding nuclei are available as additional file - film 1.
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Figure 1: Nuclei with and without sSMC(15) derived from T-lymphocytes. A) Representative interphase nucleus for case 1. In the figure the position of the sSMC is highlighted (arrowhead) and the pseudocolors together with the applied probes are given. One chromosomes 19 is central, the other peripheral positioned, both chromosomes 15 have similar positions as chromosomes 19. The sSMC is colocalized with the chromosomes 15 and 19 in central position. B) Representative interphase nucleus of case 6 using probe set for case 1. Chromosomes 19 are in close together and central, chromosomes 15 are in central to intermediate positions. N.B. Animations of the corresponding nuclei are available as additional file - film 1.

Mentions: The applied probe sets were tested on normal metaphase spreads first and are shown in Figures 1, 2, 3, 4, 5 and 6 and Additional files 1, 2, 3, 4 and 5; each probe set was tested on control case 6. A wcp 19 probe served as internal control in all experiments.


Centromeric association of small supernumerary marker chromosomes with their sister-chromosomes detected by three dimensional molecular cytogenetics.

Klein E, Manvelyan M, Simonyan I, Hamid AB, Guilherme RS, Liehr T, Karamysheva T - Mol Cytogenet (2012)

Nuclei with and without sSMC(15) derived from T-lymphocytes. A) Representative interphase nucleus for case 1. In the figure the position of the sSMC is highlighted (arrowhead) and the pseudocolors together with the applied probes are given. One chromosomes 19 is central, the other peripheral positioned, both chromosomes 15 have similar positions as chromosomes 19. The sSMC is colocalized with the chromosomes 15 and 19 in central position. B) Representative interphase nucleus of case 6 using probe set for case 1. Chromosomes 19 are in close together and central, chromosomes 15 are in central to intermediate positions. N.B. Animations of the corresponding nuclei are available as additional file - film 1.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC3313875&req=5

Figure 1: Nuclei with and without sSMC(15) derived from T-lymphocytes. A) Representative interphase nucleus for case 1. In the figure the position of the sSMC is highlighted (arrowhead) and the pseudocolors together with the applied probes are given. One chromosomes 19 is central, the other peripheral positioned, both chromosomes 15 have similar positions as chromosomes 19. The sSMC is colocalized with the chromosomes 15 and 19 in central position. B) Representative interphase nucleus of case 6 using probe set for case 1. Chromosomes 19 are in close together and central, chromosomes 15 are in central to intermediate positions. N.B. Animations of the corresponding nuclei are available as additional file - film 1.
Mentions: The applied probe sets were tested on normal metaphase spreads first and are shown in Figures 1, 2, 3, 4, 5 and 6 and Additional files 1, 2, 3, 4 and 5; each probe set was tested on control case 6. A wcp 19 probe served as internal control in all experiments.

Bottom Line: This was true in B- and T-lymphocytes as well as in skin fibroblasts.Overall, there is a kind of "attraction" between an sSMC and one of its homologous sister chromosomes.This seems to be transmitted by the euchromatic part of the sSMC rather than its heterochromatic one.

View Article: PubMed Central - HTML - PubMed

Affiliation: Jena University Hospital, Friedrich Schiller University, Institute of Human Genetics, Kollegiengasse 10, D-07743 Jena, Germany. i8lith@mti.uni-jena.de.

ABSTRACT

Background: Small supernumerary marker chromosomes (sSMC) are detected in 0.043% of general population and can be characterized for their chromosomal origin, genetic content and shape by molecular cytogenetic approaches. Even though recently progress was achieved towards genotype-phenotype-correlations of sSMC, nothing is known on the influence that an additional derivative extra chromosome has on the nuclear architecture.

Results: Here we present the first three-dimensional interphase fluorescence in situ hybridization (FISH) studies for the nuclear architecture of sSMC. It could be shown that sSMC derived from chromosomes 15, 16 or 18 preferentially colocalized with one of their corresponding sister chromosomes. This was true in B- and T-lymphocytes as well as in skin fibroblasts. Additionally, a case with a complex sSMC with a karyotype 47,XY,+der(18)t(8;18)(8p23.2 ~ 23.1;18q11.1) was studied. Here the sSMC co-localized with one homologous chromosome 8 instead of 18.

Conclusion: Overall, there is a kind of "attraction" between an sSMC and one of its homologous sister chromosomes. This seems to be transmitted by the euchromatic part of the sSMC rather than its heterochromatic one.

No MeSH data available.


Related in: MedlinePlus