Can changes in 3D genome architecture create new regulatory landscapes that contribute to phenotypic evolution?

PREGER, ELLA; FRANKEL, NICOLAS

ESSAYS IN BIOCHEMISTRY

PORTLAND PRESS LTD

Año: 2022

0071-1365

Animal genomes are compartmentalized into insulated regulatory units namedtopology-associated domains (TADs). TADs insulate gene promoters from enhancersthat occupy neighboring TADs. Chromosomal rearrangements that disrupt TAD structurecan generate new regulatory interactions between enhancers and promoters that wereonce separated into different TADs, which might lead to new gene expression patterns.On the one hand, TAD rearrangements are known to cause deleterious phenotypes, but,on the other hand, rearrangements can also create novel expression patterns that maybe selected during evolution because they generate advantageous phenotypes. Here, wereview recent studies that explore the effects of chromosomal rearrangements and geneticperturbations on TAD structure and gene regulation in the context of development andevolution. We discuss the possible contribution of evolutionary breakpoints (EBRs) thataffect TAD structure to the evolution of gene regulation and the phenotype.