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Apparent mutational hotspots and long distance linkage disequilibrium resulting from a bottleneck
Author(s) -
TENAILLON M. I.,
AUSTERLITZ F.,
TENAILLON O.
Publication year - 2008
Publication title -
journal of evolutionary biology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.289
H-Index - 128
eISSN - 1420-9101
pISSN - 1010-061X
DOI - 10.1111/j.1420-9101.2007.01490.x
Subject(s) - linkage disequilibrium , biology , demographic history , disequilibrium , bottleneck , evolutionary biology , population bottleneck , locus (genetics) , genetics , nucleotide diversity , effective population size , genetic variation , single nucleotide polymorphism , haplotype , allele , gene , microsatellite , genotype , ophthalmology , computer science , embedded system , medicine
Genome wide patterns of nucleotide diversity and recombination reveal considerable variation including hotspots. Some studies suggest that these patterns are primarily dictated by individual locus history related at a broader scale to the population demographic history. Because bottlenecks have occurred in the history of numerous species, we undertook a simulation approach to investigate their impact on the patterns of aggregation of polymorphic sites and linkage disequilibrium (LD). We developed a new index (Polymorphism Aggregation Index) to characterize this aggregation and showed that variation in the density of polymorphic sites results from an interplay between the bottleneck scenario and the recombination rate. Under particular conditions, aggregation is maximized and apparent mutation hotspots resulting in a 50‐fold increase in polymorphic sites density can occur. In similar conditions, long distance LD can be detected.