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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

The used probe sets were established and tested on normal control and in metaphase of the studied case itself (A). Afterwards the probe sets were used in S-FISH analysis (B).
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Figure 6: The used probe sets were established and tested on normal control and in metaphase of the studied case itself (A). Afterwards the probe sets were used in S-FISH analysis (B).

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)

The used probe sets were established and tested on normal control and in metaphase of the studied case itself (A). Afterwards the probe sets were used in S-FISH analysis (B).
© Copyright Policy - open-access
Related In: Results  -  Collection

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

Figure 6: The used probe sets were established and tested on normal control and in metaphase of the studied case itself (A). Afterwards the probe sets were used in S-FISH analysis (B).
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