Proceedings of the National Academy of Sciences · 2003 · 230 citations · 20 references
Life SciencesGeneticsMolecular GeneticsGenome EvolutionGenomicsMolecular EvolutionGenetic DiversityGenetic VariationGenomic VariationHaplotype AnalysisRodent GeneticsBiological VariationHaplotype StructureHeritable Disease SusceptibilityPhenotypic TraitsSingle Nucleotide Polymorphism DiversitySingle-nucleotide Polymorphism AnalysisSingle-nucleotide PolymorphismsSingle-nucleotide Variants
The nature and organization of polymorphisms, or differences, between genomes of individuals are of great interest, because these variations can be associated with or even underlie phenotypic traits, including disease susceptibility. To gain insight into the genetic and evolutionary factors influencing such biological variation, we have examined the arrangement (haplotype) of single-nucleotide polymorphisms across the genomes of eight inbred strains of mice. These analyses define blocks of high or low diversity, often extending across tens of megabases that are delineated by abrupt transitions. These observations provide a striking contrast to the haplotype structure of the human genome.
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