| First Author | Ferraj A | Year | 2023 |
| Journal | Cell Genom | Volume | 3 |
| Issue | 5 | Pages | 100291 |
| PubMed ID | 37228752 | Mgi Jnum | J:348155 |
| Mgi Id | MGI:7606391 | Doi | 10.1016/j.xgen.2023.100291 |
| Citation | Ferraj A, et al. (2023) Resolution of structural variation in diverse mouse genomes reveals chromatin remodeling due to transposable elements. Cell Genom 3(5):100291 |
| abstractText | 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. |
