Sònia Casillas and Antonio Barbadilla
Genetics March 1, 2017 vol. 205 no. 3 1003-1035;
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.
See http://www.genetics.org/content/205/3/1003?etoc
Figure 2: Kimura’s neutral theory of molecular evolution. By postulating the revolutionary new concept of neutral variants, Kimura’s neutral theory summarizes molecular evolution in one the most elegant mathematical expressions in science. The expression (the rate of molecular evolution equals the neutral mutation rate) unifies the three levels of genetic variation from its origin to its substitution in the population: mutation (individual level), polymorphism (population level), and divergence (species level). According to the neutral theory, intrapopulation polymorphism is just a random walk of variants in their process to fixation or loss (represented for species A: gray, neutral mutations; maroon, strongly deleterious mutations; see also Figure 3B). Orange arrows represent the average lifetime of a neutral mutation from its appearance to its fixation in the population (1/μ0).
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