Estimation of the spontaneous mutation rate per nucleotide site in a Drosophila melanogaster full-sib family.

ABSTRACT: We employed deep genome sequencing of two parents and 12 of their offspring to estimate the mutation rate per site per generation in a full-sib family of Drosophila melanogaster recently sampled from a natural population. Sites that were homozygous for the same allele in the parents and heterozygous in one or more offspring were categorized as candidate mutations and subjected to detailed analysis. In 1.23 × 10(9) callable sites from 12 individuals, we confirmed six single nucleotide mutations. We estimated the false negative rate in the experiment by generating synthetic mutations using the empirical distributions of numbers of nonreference bases at heterozygous sites in the offspring. The proportion of synthetic mutations at callable sites that we failed to detect was <1%, implying that

SUBMITTER: Keightley PD 

PROVIDER: S-EPMC3872194 | biostudies-literature | 2014 Jan

REPOSITORIES: biostudies-literature