Weise Anja, Bhatt Samarth, Piaszinski Katja, Kosyakova Nadezda, Fan Xiaobo, Altendorf-Hofmann Annelore, Tanomtong Alongklod, Chaveerach Arunrat, de Cioffi Marcelo Bello, de Oliveira Edivaldo, Walther Joachim-U, Liehr Thomas, Chaudhuri Jyoti P
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.
Mol Cytogenet. 2016 Apr 27;9:36. doi: 10.1186/s13039-016-0243-y. eCollection 2016.
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.
过去十年的一项基本发现是,除了主要的DNA序列信息外,还有几种表观遗传“信息层”,如DNA和组蛋白修饰、染色质包装,以及最后但同样重要的是基因在细胞核中的位置。
我们推测,功能基因组结构不仅限于细胞周期的间期,在中期阶段也能观察到,此时染色体最为浓缩且在显微镜下可见。如果是这样,它提供了一个独特的机会来直接分析不同细胞、物种和疾病中基因组结构的功能方面。另一个分子技术无法直接触及的方面是由同源染色体组代表的来自两个不同单倍体亲本基因组融合而成的基因组。我们的结果表明,不仅在间期存在众所周知且明确的核结构,在中期也存在,这导致了两组单倍体染色体的双侧组织。此外,还为单倍体分组的亲本来源提供了证据。
根据我们的发现,我们推测基因组内存在一个额外的表观遗传信息层,包括同源染色体的组织及其亲本来源,这可能会极大地改变遗传学的格局。