An Overview of Genome Organization and How We Got There: from FISH to Hi-C

Author:

Fraser James1,Williamson Iain2,Bickmore Wendy A.2,Dostie Josée1

Affiliation:

1. Department of Biochemistry, and Goodman Cancer Research Center, McGill University, Montréal, Québec, Canada

2. MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom

Abstract

SUMMARY In humans, nearly two meters of genomic material must be folded to fit inside each micrometer-scale cell nucleus while remaining accessible for gene transcription, DNA replication, and DNA repair. This fact highlights the need for mechanisms governing genome organization during any activity and to maintain the physical organization of chromosomes at all times. Insight into the functions and three-dimensional structures of genomes comes mostly from the application of visual techniques such as fluorescence in situ hybridization (FISH) and molecular approaches including chromosome conformation capture (3C) technologies. Recent developments in both types of approaches now offer the possibility of exploring the folded state of an entire genome and maybe even the identification of how complex molecular machines govern its shape. In this review, we present key methodologies used to study genome organization and discuss what they reveal about chromosome conformation as it relates to transcription regulation across genomic scales in mammals.

Publisher

American Society for Microbiology

Subject

Molecular Biology,Microbiology,Infectious Diseases

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