Abstract

Molecular population genetics aims to explain genetic variation and molecular evolution from population genetics principles. The field was born 50 years ago with the first measures of genetic variation in allozyme loci, continued with the nucleotide sequencing era, and is currently in the era of population genomics. During this period, molecular population genetics has been revolutionized by progress in data acquisition and theoretical developments. The conceptual elegance of the neutral theory of molecular evolution or the footprint carved by natural selection on the patterns of genetic variation are two examples of the vast number of inspiring findings of population genetics research. Since the inception of the field, Drosophila has been the prominent model species: molecular variation in populations was first described in Drosophila and most of the population genetics hypotheses were tested in Drosophila species. In this review, we describe the main concepts, methods, and landmarks of molecular population genetics, using the Drosophila model as a reference. We describe the different genetic data sets made available by advances in molecular technologies, and the theoretical developments fostered by these data. Finally, we review the results and new insights provided by the population genomics approach, and conclude by enumerating challenges and new lines of inquiry posed by increasingly large population scale sequence data.

Highlights

  • Molecular population genetics aims to explain genetic variation and molecular evolution from population genetics principles

  • We focus largely on what we have learned about the intragenomic component of genetic variation; showing that genome variation at a given genomic region depends on the sequence functional class and on the underlying genomic context such as level of recombination or mutation rate, gene density, chromosomal region, or chromosome associated with such a region

  • We describe the different genetic data sets that the successive molecular technologies have made available, and the theoretical contributions and improvements fostered by the data

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Summary

Introduction

Molecular population genetics aims to explain genetic variation and molecular evolution from population genetics principles. After .30 years of surveys of nucleotide variation in either particular loci (Kreitman 1983; Hasson et al 1998; Balakirev and Ayala 2003a,b, 2004) or in 100s of genomic regions at a time (Andolfatto 2007; Hutter et al 2007), very large numbers of sequences in many genes and species accumulated in the databases (Clark et al 2016), and tools were developed to make use of these publicly available data to characterize genetic diversity at a large scale (Casillas and Barbadilla 2004, 2006; Casillas et al 2005).

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