A5055119426- Chromosomal and Genetic Variations
- Genomics and Phylogenetic Studies
- Genomics and Chromatin Dynamics
- Ubiquitin and proteasome pathways
- Glycosylation and Glycoproteins Research
- CRISPR and Genetic Engineering
- Microtubule and mitosis dynamics
Jackson Laboratory
2022-2024
UConn Health
2020-2023
Diverse inbred mouse strains are important biomedical research models, yet genome characterization of many is fundamentally lacking in comparison with humans. In particular, catalogs structural variants (SVs) (variants ≥ 50 bp) incomplete, limiting the discovery causative alleles for phenotypic variation. Here, we resolve genome-wide SVs 20 genetically distinct mice long-read sequencing. We report 413,758 site-specific affecting 13% (356 Mbp) reference assembly, including 510 previously...
SUMMARY Diverse inbred mouse strains are among the foremost models for biomedical research, yet genome characterization of many has been fundamentally lacking in comparison to human genomics research. In particular, discovery and cataloging structural variants is incomplete, limiting potentially causative alleles phenotypic variation across individuals. Here, we utilized long-read sequencing resolve genome-wide (SVs, ≥ 50 bp) 20 genetically distinct mice. We report 413,758 site-specific SVs...
Insertions of endogenous retroviruses cause a significant fraction mutations in inbred mice but not all strains are equally susceptible. Notably, most new Intracisternal A particle (IAP) ERV mutagenic insertions have occurred C3H mice. We show here that strain-specific insertional polymorphic IAPs accumulate faster C3H/HeJ mice, relative to other sequenced strains, and IAP transcript levels higher embryonic stem (ES) cells compared ES cells. To investigate the mechanism for high activity we...
The kinesin family member 18A (