Abstract

BackgroundEntamoeba histolytica is a significant cause of disease worldwide. However, little is known about the genetic diversity of the parasite. We re-sequenced the genomes of ten laboratory cultured lines of the eukaryotic pathogen Entamoeba histolytica in order to develop a picture of genetic diversity across the genome.ResultsThe extreme nucleotide composition bias and repetitiveness of the E. histolytica genome provide a challenge for short-read mapping, yet we were able to define putative single nucleotide polymorphisms in a large portion of the genome. The results suggest a rather low level of single nucleotide diversity, although genes and gene families with putative roles in virulence are among the more polymorphic genes. We did observe large differences in coverage depth among genes, indicating differences in gene copy number between genomes. We found evidence indicating that recombination has occurred in the history of the sequenced genomes, suggesting that E. histolytica may reproduce sexually.ConclusionsE. histolytica displays a relatively low level of nucleotide diversity across its genome. However, large differences in gene family content and gene copy number are seen among the sequenced genomes. The pattern of polymorphism indicates that E. histolytica reproduces sexually, or has done so in the past, which has previously been suggested but not proven.

Highlights

  • Entamoeba histolytica is a significant cause of disease worldwide

  • We show that single nucleotide diversity is relatively low among these parasites, but that gene copy number variation may be a significant contributor to genome diversity

  • We provide evidence that E. histolytica may reproduce sexually and define a set of high quality single nucleotide polymorphism (SNP) that could be used as markers for genotyping E. histolytica isolates

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Summary

Introduction

Entamoeba histolytica is a significant cause of disease worldwide. Little is known about the genetic diversity of the parasite. We re-sequenced the genomes of ten laboratory cultured lines of the eukaryotic pathogen Entamoeba histolytica in order to develop a picture of genetic diversity across the genome. Entamoeba histolytica is a parasite of the human large intestine, commonly contracted by ingesting contaminated water or food. The parasite has a two stage lifecycle consisting of a cyst, the infective stage outside of the host, and a trophozoite, the reproductive stage within the host. Invasive amoebiasis results when trophozoites attack the gut wall, leading to diarrhoea, dysentery and in some cases dissemination to organs (commonly the liver) where abscesses result [1]. Exposure can be extremely high: an annual

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