Abstract

BackgroundComparative genomic studies are revealing frequent gains and losses of whole genes via duplication and pseudogenization. One commonly used method for inferring the number and timing of gene gains and losses reconciles the gene tree for each gene family with the species tree of the taxa considered. Recent studies using this approach have found a large number of ancient duplications and recent losses among vertebrate genomes.ResultsI show that tree reconciliation methods are biased when the inferred gene tree is not correct. This bias places duplicates towards the root of the tree and losses towards the tips of the tree. I demonstrate that this bias is present when tree reconciliation is conducted on both multiple mammal and Drosophila genomes, and that lower bootstrap cut-off values on gene trees lead to more extreme bias. I also suggest a method for dealing with reconciliation bias, although this method only corrects for the number of gene gains on some branches of the species tree.ConclusionBased on the results presented, it is likely that most tree reconciliation analyses show biases, unless the gene trees used are exceptionally well-resolved and well-supported. These results cast doubt upon previous conclusions that vertebrate genome history has been marked by many ancient duplications and many recent gene losses.

Highlights

  • Comparative genomic studies are revealing frequent gains and losses of whole genes via duplication and pseudogenization

  • If one of the trees is not correct (I assume in the following that this will usually be the gene tree), additional gains and losses are added to the species tree in order to completely reconcile the two trees

  • In order to reconcile this gene tree with the species tree, a single duplication must be placed above the point at which the affected lineages split and three separate gene losses must occur on the terminal lineages (Figure 2a)

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Summary

Introduction

Comparative genomic studies are revealing frequent gains and losses of whole genes via duplication and pseudogenization. One commonly used method for inferring the number and timing of gene gains and losses reconciles the gene tree for each gene family with the species tree of the taxa considered. Recent studies using this approach have found a large number of ancient duplications and recent losses among vertebrate genomes. Though there exist many widely used methods for studying the evolution of nucleotide substitutions, the study of gene gain and loss presents many more challenges These challenges exist in both data collection (for example, accurate assembly of whole-genome shotgun sequencing) and data analysis (for example, accurate estimation of duplication times).

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