Abstract
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.
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References
Bhatt S, Moradkhani K, Mrasek K, Puechberty J, Manvelyan M, Hunstig F, Lefort G, Weise A, Lespinasse J, Sarda P, Liehr T, Hamamah S, Pellestor F (2009) Breakpoint mapping and complete analysis of meiotic segregation patterns in three men heterozygous for paracentric inversions. Eur J Hum Genet 17:44–50
Bickmore WA, Teague P (2002) Influences of chromosome size, gene density and nuclear position on the frequency of constitutional translocations in the human population. Chromosome Res 10:707–715
Bolzer A, Kreth G, Solovei I, Koehler D, Saracoglu K, Fauth C, Muller S, Eils R, Cremer C, Speicher MR, Cremer T (2005) Three-dimensional maps of all chromosomes in human male fibroblast nuclei and prometaphase rosettes. PLoS Biol 3:e157
Branco MR, Pombo A (2006) Intermingling of chromosome territories in interphase suggests role in translocations and transcription-dependent associations. PLoS Biol 4:e138
Brianna Caddle L, Grant JL, Szatkiewicz J, van Hase J, Shirley BJ, Bewersdorf J, Cremer C, Arneodo A, Khalil A, Mills KD (2007) Chromosome neighborhood composition determines translocation outcomes after exposure to high-dose radiation in primary cells. Chromosome Res 15:1061–1073
Cremer T, Cremer C (2001) Chromosome territories, nuclear architecture and gene regulation in mammalian cells. Nat Rev Genet 2:292–301
Croft JA, Bridger JM, Boyle S, Perry P, Teague P, Bickmore WA (1999) Differences in the localization and morphology of chromosomes in the human nucleus. J Cell Biol 45:1119–1131
Gandhi MS, Stringer JR, Nikiforova M, Medvedovic M, Nikiforov YE (2009) Gene position within chromosome territories correlates with their involvement in distinct rearrangement types in thyroid cancer cells. Genes Chromosomes Cancer 48:222–228
Grasser F, Neusser M, Fiegler H, Thormeyer T, Cremer M, Carter NP, Cremer T, Miller S (2008) Replication-timing correlated spatial chromatin arrangements in cancer and in primate interphase nuclei. J Cell Sci 121:1876–1886
Hunstig F, Manvelyan M, Bhatt S, Steinhaeuser U, Liehr T (2009) Three-dimensional interphase analysis enabled by suspension FISH. In: Liehr T (ed) Fluorescence in situ hybridization (FISH)—application guide, 1st edn. Springer, Berlin
Klein E, Manvelyan M, Simonyan I, Hamid AB, Santos Guilherme R, Liehr T, Karamysheva T (2012) Centromeric association of small supernumerary marker chromosomes with their sister-chromosomes detected by three dimensional molecular cytogenetics. Mol Cytogenet 5:15
Lemke J, Claussen J, Michel S, Chudoba I, Mühlig P, Westermann M, Sperling K, Rubtsov N, Grummt UW, Ullmann P, Kromeyer-Hauschild K, Liehr T, Claussen U (2002) The DNA-based structure of human chromosome 5 in interphase. Am J Hum Genet 71:1051–1059
Liehr T, Weise A (2007) Frequency of small supernumerary marker chromosomes in prenatal, newborn, developmentally retarded and infertility diagnostics. Int J Mol Med 19:719–731
Liehr T, Heller A, Starke H, Claussen U (2002) FISH banding methods: applications in research and diagnostics. Expert Rev Mol Diagn 2:217–225
Liehr T, Starke H, Weise A, Lehrer H, Claussen U (2004a) Multicolor FISH probe sets and their applications. Histol Histopathol 19:229–237
Liehr T, Claussen U, Starke H (2004b) Small supernumerary marker chromosomes (sSMC) in humans. Cytogenet Genome Res 107:55–67
Liehr T, Starke H, Heller A, Kosyakova N, Mrasek K, Gross M, Karst C, Steinhaeuser U, Hunstig F, Fickelscher I, Kuechler A, Trifonov V, Romanenko SA, Weise A (2006) Multicolor fluorescence in situ hybridization (FISH) applied to FISH-banding. Cytogenet Genome Res 114:240–244
Manvelyan M, Hunstig F, Mrasek K, Bhatt S, Pellestor F, Weise A, Liehr T (2008a) Position of chromosomes 18, 19, 21 and 22 in 3D-preserved interphase nuclei of human and gorilla and white hand gibbon. Mol Cytogenet 1:9
Manvelyan M, Hunstig F, Bhatt S, Mrasek K, Pellestor F, Weise A, Simonyan I, Aroutiounian R, Liehr T (2008b) Chromosome distribution in human sperm—a 3D multicolor banding-study. Mol Cytogenet 1:25
Manvelyan M, Kempf P, Weise A, Mrasek K, Heller A, Lier A, Höffken K, Fricke HJ, Sayer HG, Liehr T, Mkrtchyan H (2009) Preferred co-localization of chromosome 8 and 21 in myeloid bone marrow cells detected by three dimensional molecular cytogenetics. Int J Mol Med 24:335–341
Meaburn KJ, Misteli T, Soutoglou E (2007) Spatial genome organization in the formation of chromosomal translocations. Semin Cancer Biol 17:80–90
Roix JJ, McQueen PG, Munson PJ, Parada LA, Misteli T (2003) Spatial proximity of translocation-prone gene loci in human lymphomas. Nat Genet 34:287–291
Steinhaeuser U, Starke H, Nietzel A, Lindenau J, Ullmann P, Claussen U, Liehr T (2002) Suspension (S)-FISH, a new technique for interphase nuclei. J Histochem Cytochem 50:1697–1698
Sun HB, Shen J, Yokota H (2000) Size-dependent positioning of human chromosomes in interphase nuclei. Biophys J 79:184–190
Weise A, Starke H, Heller A, Claussen U, Liehr T (2002) Evidence for interphase DNA decondensation transverse to the chromosome axis: a multicolor banding analysis. Int J Mol Med 9:359–361
Weise A, Mrasek K, Fickelscher I, Claussen U, Cheung SW, Cai WW, Liehr T, Kosyakova N (2008) Molecular definition of high-resolution multicolor banding probes: first within the human DNA sequence anchored FISH banding probe set. J Histochem Cytochem 56:487–493
Williams RE, Fisher AG (2003) Chromosomes, positions please! Nat Cell Biol 5:388–390
Acknowledgments
 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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Liehr, T., Mkrtchyan, H., Manvelyan, M., Karamysheva, T., Klein, E., Bhatt, S. (2013). Chromosome Architecture Studied by High-Resolution FISH Banding in Three Dimensionally Preserved Human Interphase Nuclei. In: Yurov, Y., Vorsanova, S., Iourov, I. (eds) Human Interphase Chromosomes. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-6558-4_10
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