Chromosome Architecture Studied by High-Resolution FISH Banding in Three Dimensionally Preserved Human Interphase Nuclei
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The impact of chromosome architecture on the formation of chromosome aberrations is a recent finding of interphase-directed molecular cytogenetic studies. Until recent years, biomedical research of interphase chromosomes in their integrity was hindered by technical limitations. The introduction of three-dimensional suspension-based fluorescence in situ hybridization (S-FISH) in combination with microdissection-based engineered DNA probes and fluorescence multicolor banding (MCB) allowed studying interphase chromosome organization, numbers, and rearrangements in different kinds of cells. Such studies have already provided comprehensive information on the interphase architecture of normal human sperm, as well as first insights into the influence of chromosomal rearrangements on the 3D structure of sperm nuclei. Also, the influence of additional chromosomal fragments present in a nucleus was successfully visualized by S-FISH. Finally, S-FISH supported the idea that disease-specific chromosomal translocations could be the result of tissue-specific genomic organization. Overall, S-FISH combined with MCB, but also with other DNA probes, is a tool with high potential to resolve the influence of chromosomal imbalances or rearrangements on the interphase architecture, the latter being possibly a part of epigenetic cell regulation.
KeywordsInterphase Nucleus Chromosome Territory Interphase Chromosome Sister Chromosome Small Supernumerary Marker Chromosome
Work supported in part by the DFG (436 ARM 17/11/06, LI 820/15-1, LI 820/21-1, LI 820/24-1, LI 820/33-1), DAAD (A/07/04616), Stefan-Morsch-Stiftung, Monika Kutzner Stiftung, Else Kröner-Fresenius-Stiftung (2011_A42).
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