Small supernumerary marker chromosomes and the nuclear architecture of sperm - a study in a fertile and an infertile brother.

Small supernumerary marker chromosomes and the nuclear architecture of sperm - a study in a fertile and an infertile brother. Syst Biol Reprod Med. 2014 Nov 6;:1-5 Authors: Karamysheva T, Kosyakova N, Guediche N, Liehr T Abstract Abstract Small supernumerary marker chromosomes (sSMC) are found about four times more frequently in subfertile compared to the general population. The reason for this finding is still unclear. However, a connection of interphase architecture and genome function is suggested. And as we found in a previous study the presence of sSMC influences the nuclear architecture of peripheral blood cells and fibroblasts, we hypothesized that sSMC could have similar effects in sperm cells possibly leading to infertility. Here we applied for the first time 3-dimensional interphase fluorescence in situ hybridization (3D-FISH) to characterize the position of an extra-chromosome with respect to its sister- and selected other chromosomes (6, 15, 18, 19, 21, X, and Y) in sperm. Two sSMC carrier brothers with the identical sSMC derived from chromosome 15 were studied. One of the brothers was fertile and the other brother was infertile. Deviations from the normal positioning of chromosomes 21 and Y were seen in both brothers and for chromosomes 19 and X only in the infertile brother. Most striking were high rates of nullisomy and/or disomy for chromosomes 15, including sSMC (15), and 18 exclusively seen in the infertile brother. Overall, further evi...
Source: Systems Biology in Reproductive Medicine - Category: Reproduction Medicine Authors: Tags: Syst Biol Reprod Med Source Type: research

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