A Method for Detecting Recent Selection in the Human Genome from Allele Age Estimates

Overview

Journal Genetics

Publisher Oxford University Press

Specialty Genetics

Date 2003 Sep 25

PMID 14504236

Citations 27

Authors

Christopher Toomajian

Richard S Ajioka

Lynn B Jorde

James P Kushner

Martin Kreitman

Affiliations

Soon will be listed here.

Abstract

Mutations that have recently increased in frequency by positive natural selection are an important component of naturally occurring variation that affects fitness. To identify such variants, we developed a method to test for recent selection by estimating the age of an allele from the extent of haplotype sharing at linked sites. Neutral coalescent simulations are then used to determine the likelihood of this age given the allele's observed frequency. We applied this method to a common disease allele, the hemochromatosis-associated HFE C282Y mutation. Our results allow us to reject neutral models incorporating plausible human demographic histories for HFE C282Y and one other young but common allele, indicating positive selection at HFE or a linked locus. This method will be useful for scanning the human genome for alleles under selection using the haplotype map now being constructed.

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