Interpreting the pervasive observation of U-shaped Site Frequency Spectra

PLoS Genet. 2023 Mar 23;19(3):e1010677. doi: 10.1371/journal.pgen.1010677. eCollection 2023 Mar.

Abstract

The standard neutral model of molecular evolution has traditionally been used as the null model for population genomics. We gathered a collection of 45 genome-wide site frequency spectra from a diverse set of species, most of which display an excess of low and high frequency variants compared to the expectation of the standard neutral model, resulting in U-shaped spectra. We show that multiple merger coalescent models often provide a better fit to these observations than the standard Kingman coalescent. Hence, in many circumstances these under-utilized models may serve as the more appropriate reference for genomic analyses. We further discuss the underlying evolutionary processes that may result in the widespread U-shape of frequency spectra.

Publication types

  • Research Support, U.S. Gov't, Non-P.H.S.
  • Research Support, N.I.H., Extramural

MeSH terms

  • Biological Evolution*
  • Evolution, Molecular*
  • Models, Genetic