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Initial sequencing and comparative analysis of the mouse genome
Open accessAbstract
The sequence of the mouse genome is a key informational tool for understanding the contents of the human genome and a key experimental tool for biomedical research. Here, we report the results of an international collaboration to produce a high-quality draft sequence of the mouse genome. We also present an initial comparative analysis of the mouse and human genomes, describing some of the insights that can be gleaned from the two sequences. We discuss topics including the analysis of the evolutionary forces shaping the size, structure and sequence of the genomes; the conservation of large-scale synteny across most of the genomes; the much lower extent of sequence orthology covering less than half of the genomes; the proportions of the genomes under selection; the number of protein-coding genes; the expansion of gene families related to reproduction and immunity; the evolution of proteins; and the identification of intraspecies polymorphism.
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“In 2002, the mouse reference genome was based on a single inbred mouse strain, namely, C57BL/6J (BL6).3”
From High-quality mouse reference genomes reveal the structural complexity of the murine protein-coding landscape (2026) · cites this paper as [3]
In the citing paper
“The median value of K S is 1.02.”
From Genome of the marsupial Monodelphis domestica reveals innovation in non-coding sequences (2007) · cites this paper as [7]
In the citing paper
“The most surprising discovery to emerge from comparative analyses of eutherian genomes is the finding that the majority of evolutionarily conserved sequence does not represent protein-coding genes, but rather are conserved non-coding elements (CNEs) 7,10 .”
From Genome of the marsupial Monodelphis domestica reveals innovation in non-coding sequences (2007) · cites this paper as [7]
In the citing paper
“sequencing of mouse and human genomes reveals great conservation of function and only about 300 unique genes”
From Retinal ultrastructure of murine models of dry age-related macular degeneration (AMD) (2010) · cites this paper as Waterston et al., 2002
In the citing paper
“Comparative genome analysis has shown that 5% of the human genome is evolutionarily conserved and thus functional; less than one-third of this 5% consists of genes that encode proteins (108).”
From Genetic Mapping in Human Disease (2008) · cites this paper as [108]
In the citing paper
“Useful tools will include maps of evolutionary conservation (108) and chromatin state (140), as well as databases of cell-state signatures, such as genome-wide expression patterns, that may integrate aspects of cell biology under resting and provoked conditions (141).”
From Genetic Mapping in Human Disease (2008) · cites this paper as [108]
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Metadata
- Authors
- Mouse Genome Sequencing Consortium
- Venue
- Nature
- Published
- 2002-12
- Volume
- 420
- Issue
- 6915
- Pages
- 520-562
- ISSN
- 0028-0836 (ISSN-L)
- 1476-4687
- OpenAlex
- W2151464048
- Cited by
- 7,187
- References
- 330
- Citations by year
- 2026: 111 · 2025: 171 · 2024: 209 · 2023: 173 · 2022: 212 · 2021: 237 · 2020: 204 · 2019: 234 · 2018: 214 · 2017: 182 · 2016: 214 · 2015: 262 · 2014: 268 · 2013: 300 · 2012: 298
- FWCI
- 181.79
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature (publishedVersion)
- PubMed (publishedVersion)
- Cold Spring Harbor Laboratory Institutional Repository (Cold Spring Harbor Laboratory) (acceptedVersion)
- CaltechAUTHORS (California Institute of Technology) (submittedVersion)
- ENLIGHTEN (Jurnal Bimbingan dan Konseling Islam) (submittedVersion)
- UCL Discovery (University College London) (submittedVersion)
- Research Portal (King's College London) (submittedVersion)
- The Mouseion at the JAXlibrary (Jackson Laboratory) (submittedVersion)
- ANU Open Research (Australian National University) (submittedVersion)
- Research Explorer (The University of Manchester) (submittedVersion)
- Archive ouverte UNIGE (University of Geneva) (submittedVersion)
- Archive ouverte UNIGE (University of Geneva) (submittedVersion, cc-by)
- Funders
- National Science Foundation
- Foundation for the National Institutes of Health
- Howard Hughes Medical Institute
- U.S. Department of Energy
- GlaxoSmithKline
- Wellcome Trust
- European Molecular Biology Laboratory
- Ministry of Education, Culture, Sports, Science and Technology
- Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung
- Bundesministerium für Bildung und Forschung
- National Institutes of Health
- Natural Sciences and Engineering Research Council of Canada
- Medical Research Council
- National Institute of Mental Health
- National Cancer Institute
- National Institute on Deafness and Other Communication Disorders
- National Institute of General Medical Sciences
- Fogarty International Center
- National Institute of Diabetes and Digestive and Kidney Diseases
- National Center for Research Resources
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Genomics and Phylogenetic Studies
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Chromosomal and Genetic Variations
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genome Rearrangement Algorithms
- Keywords
- mouse genome, genome sequencing, comparative genomics, human genome, synteny, positive selection, protein-coding genes, gene family expansion, protein evolution, genome evolution
- MeSH terms
- Animals, Base Composition, Gene Expression Regulation, Genes, Multigene Family, Humans, Mice, Transgenic, Neoplasms, Pseudogenes, Repetitive Sequences, Nucleic Acid, Selection, Genetic, Sex Chromosomes, Species Specificity, Genetic Variation, Genome, Human, Mutagenesis, Genome, Conserved Sequence, Sequence Analysis, DNA, Mice, Knockout, CpG Islands, Evolution, Molecular, Physical Chromosome Mapping, Proteome, RNA, Untranslated, Genomics, Models, Animal, Synteny, Chromosomes, Mammalian, Quantitative Trait Loci, Mice
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