Recent advances in chromosome capture techniques unraveling 3D genome architecture in germ cells, health, and disease

Funct Integr Genomics. 2023 Jun 29;23(3):214. doi: 10.1007/s10142-023-01146-5.

Abstract

In eukaryotes, the genome does not emerge in a specific shape but rather as a hierarchial bundle within the nucleus. This multifaceted genome organization consists of multiresolution cellular structures, such as chromosome territories, compartments, and topologically associating domains, which are frequently defined by architecture, design proteins including CTCF and cohesin, and chromatin loops. This review briefly discusses the advances in understanding the basic rules of control, chromatin folding, and functional areas in early embryogenesis. With the use of chromosome capture techniques, the latest advancements in technologies for visualizing chromatin interactions come close to revealing 3D genome formation frameworks with incredible detail throughout all genomic levels, including at single-cell resolution. The possibility of detecting variations in chromatin architecture might open up new opportunities for disease diagnosis and prevention, infertility treatments, therapeutic approaches, desired exploration, and many other application scenarios.

Keywords: 3D genome architecture; Chromatin; Germ cells; Hi-C; Infertility.

Publication types

  • Review

MeSH terms

  • Animals
  • Cell Differentiation
  • Chromatin
  • Chromosomes*
  • Genome*
  • Germ Cells* / cytology
  • Humans
  • Nuclear Proteins / chemistry
  • Nuclear Proteins / metabolism

Substances

  • Chromatin
  • Nuclear Proteins