The 3D genome: From fundamental principles to disease and cancer

Abstract

In higher eukaryotes, the three-dimensional (3D) organization of the genome is intimately related to numerous key biological functions including gene expression, DNA repair and DNA replication regulations. Alteration of this 3D organization is detrimental to the organism and can give rise to a broad range of diseases such as cancers. Here, we review recent advances in the field. We first describe how the genome is packed in 3D to form chromosome territories, compartments and domains. We also give an overview of the recent techniques that allow to map the genome in 3D up to the kilobase resolution. We then discuss potential mechanisms by which genome misfolding can affect proper gene expression by distal enhancers, and how the 3D genome influences the formation of genomic rearrangements.

Keywords: 3D genome; Cancer; Chromosomal rearrangement; Epigenetics; GWAS; Hi-C.