Jena University Hospital, Friedrich Schiller University, Institute of Human Genetics, Am Klinikum 1, D-07747 Jena, Germany.
Int J Mol Sci. 2019 Feb 14;20(4):826. doi: 10.3390/ijms20040826.
The concept of "chromosomics" was introduced by Prof. Uwe Claussen in 2005. Herein, the growing insights into human chromosome structure finally lead to a "chromosomic view" of the three-dimensional constitution and plasticity of genes in interphase nuclei are discussed. This review is dedicated to the memory of Prof. Uwe Claussen (30 April 1945⁻20 July 2008).
Chromosomics is the study of chromosomes, their three-dimensional positioning in the interphase nucleus, the consequences from plasticity of chromosomal subregions and gene interactions, the influence of chromatin-modification-mediated events on cells, and even individuals, evolution, and disease. Progress achieved in recent years is summarized, including the detection of chromosome-chromosome-interactions which, if damaged, lead to malfunction and disease. However, chromosomics in the Human Genetics field is not progressing presently, as research interest has shifted from single cell to high throughput, genomic approaches.
Chromosomics and its impact were predicted correctly in 2005 by Prof. Claussen. Although some progress was achieved, present reconsiderations of the role of the chromosome and the single cell in Human Genetic research are urgently necessary.
“染色体组学”的概念是由 Uwe Claussen 教授于 2005 年提出的。在此，人们对人类染色体结构的认识不断加深，最终讨论了在间期核中基因的三维构成和可塑性的“染色体组学观点”。本文谨以此文纪念 Uwe Claussen 教授（1945 年 4 月 30 日-2008 年 7 月 20 日）。
染色体组学是研究染色体的学科，包括它们在间期核中的三维定位、染色体亚区可塑性和基因相互作用的后果、染色质修饰介导的事件对细胞甚至个体的进化和疾病的影响。总结了近年来取得的进展，包括检测染色体-染色体相互作用，如果这些相互作用受到破坏，将导致功能障碍和疾病。然而，目前人类遗传学领域的染色体组学并没有取得进展，因为研究兴趣已经从单细胞转移到高通量、基因组方法。
Claussen 教授在 2005 年准确地预测了染色体组学及其影响。尽管取得了一些进展，但目前迫切需要重新考虑染色体和单细胞在人类遗传学研究中的作用。
