Functional Consequences of Chromosomal Rearrangements on Gene Expression: Not So Deleterious After All?

Abstract

Chromosomes are folded and organized into topologically associating domains (TADs) which provide a framework for the interaction of enhancers with the promoter of their target gene(s). Structural rearrangements observed during evolution or in disease contexts suggest that changes in genome organization strongly affect gene expression and can have drastic phenotypic effects. In this review, I will discuss how recent genomic engineering experiments reveal a more contrasted picture, suggesting that TADs are important but not always essential for gene expression regulation.

Keywords: Chromatin organization; Chromosomal rearrangements; Enhancers; Topologically associating domains; Transcription.