Understanding Regulatory Mechanisms of Brain Function and Disease through 3D Genome Organization

Genes (Basel). 2022 Mar 25;13(4):586. doi: 10.3390/genes13040586.

Abstract

The human genome has a complex and dynamic three-dimensional (3D) organization, which plays a critical role for gene regulation and genome function. The importance of 3D genome organization in brain development and function has been well characterized in a region- and cell-type-specific fashion. Recent technological advances in chromosome conformation capture (3C)-based techniques, imaging approaches, and ligation-free methods, along with computational methods to analyze the data generated, have revealed 3D genome features at different scales in the brain that contribute to our understanding of genetic mechanisms underlying neuropsychiatric diseases and other brain-related traits. In this review, we discuss how these advances aid in the genetic dissection of brain-related traits.

Keywords: brain function and disease; chromatin interaction; chromosome conformation capture (3C); frequently interacting region (FIRE); human genome; topologically associating domain (TAD).

Publication types

  • Review
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Brain
  • Chromatin*
  • Chromosomes*
  • Gene Expression Regulation
  • Genome, Human
  • Humans

Substances

  • Chromatin