Abstract

Several inferential methods using genomic data have been proposed to quantify and date population size changes in the history of species. At the same time an increasing number of studies have shown that population structure can generate spurious signals of population size change. Recently, Mazet et al. (2016) introduced, for a sample size of two, a time-dependent parameter, which they called the IICR (inverse instantaneous coalescence rate). The IICR is equivalent to a population size in panmictic models, but not necessarily in structured models. It is characterised by a temporal trajectory that suggests population size changes, as a function of the sampling scheme, even when the total population size was constant. Here, we extend the work of Mazet et al. (2016) by (i) showing how the IICR can be computed for any demographic model of interest, under the coalescent, (ii) applying this approach to models of population structure (1D and 2D stepping stone, split models, two- and three-island asymmetric gene flow, continent-island models), (iii) stressing the importance of the sampling strategy in generating different histories, (iv) arguing that IICR plots can be seen as summaries of genomic information that can thus be used for model choice or model exclusion (v) applying this approach to the question of admixture between humans and Neanderthals. Altogether these results are potentially important given that the widely used PSMC (pairwise sequentially Markovian coalescent) method of Li and Durbin (2011) estimates the IICR of the sample, not necessarily the history of the populations.

Highlights

  • Lounès Chikhi and Willy Rodríguez contributed to this work.Electronic supplementary material The online version of this article contains supplementary material, which is available to authorised users.P-2780-156 Oeiras, Portugal 4 Université de Toulouse, Institut National des Sciences Appliquées, Institut de Mathématiques de Toulouse, F-31077 Toulouse, France 5 GenPhySE, Université de Toulouse, INRA, INPT, INP-ENVT, Castanet Tolosan, FranceThe habitats of most animal and plant species have expanded and contracted on various occasions during their history (Hewitt 2000)

  • A growing number of studies have shown that population structure per se can generate spurious signals of population size change, even when populations were stationary and that these signals depend on the sampling strategy used (Wakeley 1999, 2001; Beaumont 2004; Nielsen and Beaumont 2009; Städler et al 2009; Chikhi et al 2010; Peter et al 2010; Heller et al 2013; Paz-Vinas et al 2013; Mazet et al 2015, 2016)

  • To demonstrate how our approach can be used with genomic data we identified a study (Yang et al 2012), which aimed at determining whether the presence of “Neanderthal DNA” that has been reported in some human populations was due to admixture between Neanderthals and humans or to ancient population structure without admixture

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Summary

Introduction

Whereas initial studies suggested or assumed that there was a relatively simple relationship between population size changes inferred from genetic data and real demographic changes, it has become increasingly clear that the relationship is not necessarily simple (Marjoram and Donnelly 1994; Wakeley 1999; Mazet et al 2016). Several studies have shown that the direction of change inferred from genetic data can even be opposite to the actual change in total size when populations are structured (Wakeley 1999; Mazet et al 2016). There is, a need to understand whether and how spurious population size changes may be generated under different models of population structure

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