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Mol Cytogenet. 2016 Apr 27;9:36. doi: 10.1186/s13039-016-0243-y. eCollection 2016.

Chromosomes in a genome-wise order: evidence for metaphase architecture.

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Institute of Human Genetics, Jena University Hospital, Postfach, 07740, Jena, Germany.
Department of General, Visceral und Vascular Surgery, Jena University Hospital, Kochstr. 2, Jena, 07743 Germany.
Department of Biology, Faculty of Science, Khon Kaen University, 123 Moo 16 Mittapap Rd, Khon Kaen, Muang District 40002 Thailand.
Departamento de Genética e Evolução, Universidade Federal de São Carlos, São Carlos, SP Brazil.
Instituto Evandro Chagas, Seção de Meio Ambiente, Laboratório de Cultura de Tecidos e Citogenética, Ananindeua, PA Brazil.
Institute of Human Genetics, Jena University Hospital, Postfach, 07740, Jena, Germany ; Kinderklinik, Ludwig Maximillians Universität, 80337 Munich, Germany.



One fundamental finding of the last decade is that, besides the primary DNA sequence information there are several epigenetic "information-layers" like DNA-and histone modifications, chromatin packaging and, last but not least, the position of genes in the nucleus.


We postulate that the functional genomic architecture is not restricted to the interphase of the cell cycle but can also be observed in the metaphase stage, when chromosomes are most condensed and microscopically visible. If so, it offers the unique opportunity to directly analyze the functional aspects of genomic architecture in different cells, species and diseases. Another aspect not directly accessible by molecular techniques is the genome merged from two different haploid parental genomes represented by the homologous chromosome sets. Our results show that there is not only a well-known and defined nuclear architecture in interphase but also in metaphase leading to a bilateral organization of the two haploid sets of chromosomes. Moreover, evidence is provided for the parental origin of the haploid grouping.


From our findings we postulate an additional epigenetic information layer within the genome including the organization of homologous chromosomes and their parental origin which may now substantially change the landscape of genetics.


Chromosomes; Genome architecture; Haploid grouping; Metaphase; Parental origin

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