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Updated: Jul 29, 2025

CRISPR-Mediated Reorganization of Chromatin Loop Structure
Published on: September 14, 2018
Resolution of structural variation in diverse mouse genomes reveals chromatin remodeling due to transposable elements
Ardian Ferraj1,2, Peter A Audano2, Parithi Balachandran2
1Department of Genetics and Genome Sciences, University of Connecticut Health Center, Farmington, CT 06032, USA.
Abstract:
Diverse inbred mouse strains are important biomedical research models, yet genome characterization of many strains is fundamentally lacking in comparison with humans. In particular, catalogs of structural variants (SVs) (variants ≥ 50 bp) are incomplete, limiting the discovery of causative alleles for phenotypic variation. Here, we resolve genome-wide SVs in 20 genetically distinct inbred mice with long-read sequencing. We report 413,758 site-specific SVs affecting 13% (356 Mbp) of the mouse reference assembly, including 510 previously unannotated coding variants. We substantially improve the Mus musculus transposable element (TE) callset, and we find that TEs comprise 39% of SVs and account for 75% of altered bases. We further utilize this callset to investigate how TE heterogeneity affects mouse embryonic stem cells and find multiple TE classes that influence chromatin accessibility. Our work provides a comprehensive analysis of SVs found in diverse mouse genomes and illustrates the role of TEs in epigenetic differences.
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