ArticleNature genetics2025
Complete genome assemblies of two mouse subspecies reveal structural diversity of telomeres and centromeres.
Article in Nature genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed.
- Article
- Escape from X-chromosome inactivation: from gene discovery to regulatory mechanisms.Biochemical Society transactions · 2026Review
- Trans-regulation of heterochromatin underlies genetic variation in 3D genome contacts in mouse embryonic stem cells.Genome biology · 2026Article
- Spatial organization and dynamics of genome replication: from forks to foci.Nucleic acids research · 2026Review
- Murine osteosarcoma recapitulates the driver landscape and genomic complexity of osteosarcoma evolution in humans.bioRxiv : the preprint server for biology · 2026Article
- Snail plots are badges of genome assembly quality.G3 (Bethesda, Md.) · 2026Article
- Reciprocal constraint couples architectural protein abundance and pericentromeric satellite expansion.bioRxiv : the preprint server for biology · 2026Article
- Systematic cell-type resolved transcriptomes of 8 tissues in 8 lab and wild-derived mouse strains capture global and local expression variation.Cell genomics · 2026Article
- Complete telomere-to-telomere genomes of cowpea reveal insights into centromere evolution in Phaseoleae.Horticulture research · 2026Article
- A Vertebrate Toxin-Antidote System That Sabotages Mouse Embryogenesis.bioRxiv : the preprint server for biology · 2026Article
- Adaptive evolution of Topoisomerase II triggers reproductive isolation in Drosophila.bioRxiv : the preprint server for biology · 2026Article
- High-quality mouse reference genomes reveal the structural complexity of the murine protein-coding landscape.Cell genomics · 2026Article
- Highly polymorphic copy number variation in a segmental duplication in the mouse pseudoautosomal region even within inbred laboratory strains.Proceedings of the Japan Academy. Series B, Physical and biological sciences · 2026Article
- Comparative sequence analysis of the mouse pseudoautosomal region from three inbred strains reveals it to be the most rapidly evolving 'chromosome'.Proceedings of the Japan Academy. Series B, Physical and biological sciences · 2026Article
- Article
- Determining gene specificity from multivariate single-cell RNA sequencing data.bioRxiv : the preprint server for biology · 2025Article
- A complete diploid human genome benchmark for personalized genomics.bioRxiv : the preprint server for biology · 2025Article
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Authors and funding
18 authors.
Funding
Abstract
It has been more than 20 years since the publication of the C57BL/6J mouse reference genome, which has been a key catalyst for understanding the biology of mammalian diseases. However, the mouse reference genome still lacks telomeres and centromeres, contains 281 chromosomal sequence gaps and only partially represents many biomedically relevant loci. Here we present the first telomere-to-telomere (T2T) mouse genomes for two key inbred strains, C57BL/6J and CAST/EiJ. These T2T genomes reveal substantial variability in telomere and centromere sizes and structural organization. We thus add an additional 213 Mb of new sequence to the reference genome, which contains 517 protein-coding genes. We also examined two important but incomplete loci in the mouse genome-the pseudoautosomal region (PAR) on the sex chromosomes and KRAB zinc-finger protein loci. We identified distant locations of the PAR boundary, different copy numbers and sizes of segmental duplications and a multitude of amino acid substitution mutations in PAR genes.
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