Insights about genome function from spatial organization of the genome

Hum Genomics. 2018 Feb 20;12(1):8. doi: 10.1186/s40246-018-0140-z.

Abstract

Over the last 15 years, development of chromosome conformation capture (3C) and its subsequent high-throughput variants in conjunction with the fast development of sequencing technology has allowed investigators to generate large volumes of data giving insights into the spatial three-dimensional (3D) architecture of the genome. This huge data has been analyzed and validated using various statistical, mathematical, genomics, and biophysical tools in order to examine the chromosomal interaction patterns, understand the organization of the chromosome, and find out functional implications of the interactions. This review summarizes the data generated by several large-scale high-throughput chromosome conformation capture studies and the functional implications obtained from the data analyses. We also discuss emerging results on factors (both CCCTC binding factor (CTCF) related and CTCF independent) that could contribute to looping interactions.

Keywords: Chromatin looping; Chromosome conformation capture (3C); Genome architecture; Hi-C; Histone modifications; Topologically associated domains (TAD); Transcription.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Big Data*
  • CCCTC-Binding Factor / genetics
  • Chromatin Assembly and Disassembly
  • Chromosomes / genetics
  • Genome, Human / genetics*
  • Genomics / statistics & numerical data*
  • Genomics / trends
  • Humans

Substances

  • CCCTC-Binding Factor
  • CTCF protein, human