Cellular and genomic approaches for exploring structural chromosomal rearrangements

Human chromosomes are arranged in a linear and conserved sequence order that undergoes further spatial folding within the three-dimensional space of the nucleus. Although structural variations in this organization are an important source of natural genetic diversity, cytogenetic aberrations can also...

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Bibliographic Details
Published in:Chromosome research 2020-03, Vol.28 (1), p.19-30
Main Authors: Hu, Qing, Maurais, Elizabeth G., Ly, Peter
Format: Article
Language:English
Subjects:
Animal Genetics and Genomics
Biomedical and Life Sciences
Cell Biology
Chromosome rearrangements
Chromosomes
Conserved sequence
Cytogenetics
Deoxyribonucleic acid
DNA
DNA sequencing
fish
fluorescence
Fluorescence in situ hybridization
Fluorescence microscopy
Genetic diversity
genetic variation
genome
Genomes
genomics
Human Genetics
humans
hybridization
karyotyping
Life Sciences
Plant Genetics and Genomics
Review
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Summary:Human chromosomes are arranged in a linear and conserved sequence order that undergoes further spatial folding within the three-dimensional space of the nucleus. Although structural variations in this organization are an important source of natural genetic diversity, cytogenetic aberrations can also underlie a number of human diseases and disorders. Approaches for studying chromosome structure began half a century ago with karyotyping of Giemsa-banded chromosomes and has now evolved to encompass high-resolution fluorescence microscopy, reporter-based assays, and next-generation DNA sequencing technologies. Here, we provide a general overview of experimental methods at different resolution and sensitivity scales and discuss how they can be complemented to provide synergistic insight into the study of human chromosome structural rearrangements. These approaches range from kilobase-level resolution DNA fluorescence in situ hybridization (FISH)-based imaging approaches of individual cells to genome-wide sequencing strategies that can capture nucleotide-level information from diverse sample types. Technological advances coupled to the combinatorial use of multiple methods have resulted in the discovery of new rearrangement classes along with mechanistic insights into the processes that drive structural alterations in the human genome.
ISSN:0967-3849
1573-6849
DOI:10.1007/s10577-020-09626-1