Abstract

BackgroundWhole genome re-sequencing provides powerful data for population genomic studies, allowing robust inferences of population structure, gene flow and evolutionary history. For the major malaria vector in Africa, Anopheles gambiae, other genetic aspects such as selection and adaptation are also important. In the present study, we explore population genetic variation from genome-wide sequencing of 765 An. gambiae and An. coluzzii specimens collected from across Africa. We used t-SNE, a recently popularized dimensionality reduction method, to create a 2D-map of An. gambiae and An. coluzzii genes that reflect their population structure similarities.ResultsThe map allows intuitive navigation among genes distributed throughout the so-called “mainland” and numerous surrounding “island-like” gene clusters. These gene clusters of various sizes correspond predominantly to low recombination genomic regions such as inversions and centromeres, and also to recent selective sweeps. Because this mosquito species complex has been studied extensively, we were able to support our interpretations with previously published findings. Several novel observations and hypotheses are also made, including selective sweeps and a multi-locus selection event in Guinea-Bissau, a known intense hybridization zone between An. gambiae and An. coluzzii.ConclusionsOur results present a rich dataset that could be utilized in functional investigations aiming to shed light onto An. gambiae s.l genome evolution and eventual speciation. In addition, the methodology presented here can be used to further characterize other species not so well studied as An. gambiae, shortening the time required to progress from field sampling to the identification of genes and genomic regions under unique evolutionary processes.

Highlights

  • Whole genome re-sequencing provides powerful data for population genomic studies, allowing robust inferences of population structure, gene flow and evolutionary history

  • Using genome re-sequencing or Single Nucleotide Polymorphism (SNP) microarrays, genomic regions and loci were identified that have diverged between An. gambiae s.s. and An. coluzzii [16,17,18,19], or between populations with differing insecticide resistance phenotypes [20, 21]

  • The latest most ambitious population study was the re-sequencing of nearly 1000 genomes of An. gambiae s.s. and An. coluzzii, which revealed high levels of genetic diversity in natural populations and provided a platform to explore further genetic factors in this important malaria vector

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Summary

Introduction

Whole genome re-sequencing provides powerful data for population genomic studies, allowing robust inferences of population structure, gene flow and evolutionary history. We explore population genetic variation from genome-wide sequencing of 765 An. gambiae and An. coluzzii specimens collected from across Africa. The frequencies of the largest and most geographically distributed inversions in the second chromosome of An. gambiae (2La and 2Rb) have been shown to correlate with an African aridity cline [5, 11, 12]. Causal validation of this correlation was performed by phenotypic experiments with characterized laboratory colonies [13, 14] and controlled karyotype crosses [8]. The study surveyed genomic population structure heterogeneity by analysing 100 kbp windows and identified four types of evolutionary dynamics, whereby population structure is governed by species, geography, 2La inversion genotype or 2Rb inversion genotype [22]

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