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Molecular Biology and Evolution 19:336-340 (2002)
© 2002 Society for Molecular Biology and Evolution

Gene Density and Human Nucleotide Polymorphism

Bret A. Payseur and Michael W. Nachman

Department of Ecology and Evolutionary Biology, Biosciences West Building, University of Arizona

Population genetics theory indicates that natural selection will affect levels and patterns of genetic variation at closely linked loci. Background selection (Charlesworth, Morgan, and Charlesworth 1993Citation ) proposes that the removal of recurrent deleterious mutations and associated neutral variants will cause a reduction of nucleotide variation in low-recombination regions. The strength of background selection depends on the deleterious mutation rate, the magnitude of selection and dominance, and the recombination rate. Genetic hitchhiking (Maynard Smith and Haigh 1974Citation ), the fixation of advantageous alleles and the associated fixation of linked neutral alleles, can also decrease nucleotide diversity in low-recombination regions. The extent of genetic hitchhiking depends on the strength of selection and the rate of recombination. Therefore, under both background selection and genetic hitchhiking, theory predicts that genomic regions that rarely recombine may be subject to reductions in nucleotide diversity. Furthermore, if the rate of deleterious mutation or selective sweeps (or . . . [Full Text of this Article]

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