Spatial genome organization and disease

Abstract

The nucleus is a complex organelle that performs a wide array of critical functions. Within the nucleus the genome is highly organized. Individual chromosomes form discrete chromosome territories. The organization of the genome is correlated with function, for example gene expression. Each chromosome and gene has a preferential spatial location, which can vary by cell type, differentiation stage and during disease. Active and inactive chromatin tends to be spatially separated both within the 3D nuclear space and within a chromosome territory. The molecular mechanisms that determine genome organization are currently poorly understood. However, it is known that the proximity of gene loci can contribute to translocation partner choice. The recent development of a plethora of new molecular techniques and imaging strategies, combined with fluorescent in situ hybridization, is being applied to both normal and diseased cells. Such studies will bring us closer to understanding the implications of genome organization and the molecules and mechanisms that determine it.