MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, United Kingdom; email:
Annu Rev Genomics Hum Genet. 2013;14:67-84. doi: 10.1146/annurev-genom-091212-153515. Epub 2013 Jul 15.
In vivo, the human genome functions as a complex, folded, three-dimensional chromatin polymer. Understanding how the human genome is spatially organized and folded inside the cell nucleus is therefore central to understanding how genes are regulated in normal development and dysregulated in disease. Established light microscopy-based approaches and more recent molecular chromosome conformation capture methods are now combining to give us unprecedented insight into this fascinating aspect of human genomics.
在体内，人类基因组作为一个复杂的、折叠的三维染色质聚合物发挥功能。因此，了解人类基因组在细胞核内是如何进行空间组织和折叠的，对于理解基因在正常发育过程中的调控以及在疾病中失调的机制至关重要。现有的基于光学显微镜的方法和最近的分子染色体构象捕获方法正在结合起来，使我们能够以前所未有的视角深入了解人类基因组的这一迷人方面。
