ArticleProceedings of the National Academy of Sciences of the United States of America2003
Evolution's cauldron: duplication, deletion, and rearrangement in the mouse and human genomes.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 530 papers, 3 of them syntheses that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
530 citing papers in PubMed, 3 syntheses or guidelines pooled it.
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- Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases.Nature communications · 2018Pooled it
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- A study of sex-specific genetic effects underlying risk of orofacial clefts also highlights the potential impact of sequencing errors due to short read mis-mapping.medRxiv : the preprint server for health sciences · 2026Article
- Genomic insights into marine-freshwater transition: evolutionary adaptations in freshwater Pusa seals.Genetica · 2026Article
- Segmentally Duplicated Regulatory Elements Undergo Human-Specific Rewiring.Molecular biology and evolution · 2026Article
- MGA: a tool for haplotype-mixed assembly of long and accurate reads.Genome biology · 2026Article
- CrossFilt: a cross-species filtering tool that eliminates alignment bias in comparative genomics studies of primates.Genome biology · 2026Article
- Comparative Genomics Reveals the Ancestral Recombination Landscape of Placental Mammals.bioRxiv : the preprint server for biology · 2026Article
- The diploid reference genome of a human embryonic stem cell line.bioRxiv : the preprint server for biology · 2026Article
- Identification of theInternational journal of molecular sciences · 2026Article
- Comparative centromere genomics reveals evolutionary divergence in Solanaceae genomes.Genome biology · 2026Article
- Genome-wide identification and functional analysis of the WRKY transcription factor family in Reynoutria japonica reveals its role in balancing growth and abiotic stress tolerance.BMC plant biology · 2026Article
- Accelerating minimap2 for whole-genome alignment.Bioinformatics (Oxford, England) · 2026Article
- Sub-pangenome analysis reveals structural variants associated with fruit color and bacterial wilt resistance in eggplant.Nature communications · 2026Article
- Boundary-associated propagation of a processed pseudogene dissects pre-existing limitations of genome annotation in the T2T era.Mobile DNA · 2026Article
- Lassa virus circumvents macrophage and dendritic cell antiviral defences in its natural reservoir, the Natal multimammate mouse (Mastomys natalensis).Npj viruses · 2026Article
470 more citing papers are in PubMed but not listed here.
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5 authors.
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Abstract
This study examines genomic duplications, deletions, and rearrangements that have happened at scales ranging from a single base to complete chromosomes by comparing the mouse and human genomes. From whole-genome sequence alignments, 344 large (>100-kb) blocks of conserved synteny are evident, but these are further fragmented by smaller-scale evolutionary events. Excluding transposon insertions, on average in each megabase of genomic alignment we observe two inversions, 17 duplications (five tandem or nearly tandem), seven transpositions, and 200 deletions of 100 bases or more. This includes 160 inversions and 75 duplications or transpositions of length >100 kb. The frequencies of these smaller events are not substantially higher in finished portions in the assembly. Many of the smaller transpositions are processed pseudogenes; we define a "syntenic" subset of the alignments that excludes these and other small-scale transpositions. These alignments provide evidence that approximately 2% of the genes in the human/mouse common ancestor have been deleted or partially deleted in the mouse. There also appears to be slightly less nontransposon-induced genome duplication in the mouse than in the human lineage. Although some of the events we detect are possibly due to misassemblies or missing data in the current genome sequence or to the limitations of our methods, most are likely to represent genuine evolutionary events. To make these observations, we developed new alignment techniques that can handle large gaps in a robust fashion and discriminate between orthologous and paralogous alignments.
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