# Selective strolls: fixation and extinction in diploids are slower for weakly selected mutations than for neutral ones

Selective strolls: fixation and extinction in diploids are slower for weakly selected mutations than for neutral ones

fabrizio mafessoni , Michael Lachmann
doi: http://dx.doi.org/10.1101/016881

In finite populations, an allele disappears or reaches fixation due to two main forces, selection and drift. Selec- tion is generally thought to accelerate the process: a selected mutation will reach fixation faster than a neutral one, and a disadvantageous one will quickly disappear from the population. We show that even in simple diploid populations, this is often not true. Dominance and recessivity unexpectedly slow down the evolutionary process for weakly selected alleles. In particular, slightly advantageous dominant and mildly deleterious recessive mu- tations reach fixation more slowly than neutral ones. This phenomenon determines genetic signatures opposite to those expected under strong selection, such as increased instead of decreased genetic diversity around the selected site. Furthermore, we characterize a new phenomenon: mildly deleterious recessive alleles, thought to represent the vast majority of newly arising mutations, survive in a population longer than neutral ones, before getting lost. Hence, natural selection is less effective than previously thought in getting rid rapidly of slightly negative mutations, contributing their observed persistence in present populations. Consequently, low frequency slightly deleterious mutations are on average older than neutral ones.

# The fate of a mutation in a fluctuating environment

The fate of a mutation in a fluctuating environment

Ivana Cvijovic , Benjamin H. Good , Elizabeth R. Jerison , Michael M. Desai
doi: http://dx.doi.org/10.1101/016709

Natural environments are never truly constant, but the evolutionary implications of temporally varying selection pressures remain poorly understood. Here we investigate how the fate of a new mutation in a variable environment depends on the dynamics of environmental fluctuations and on the selective pressures in each condition. We find that even when a mutation experiences many environmental epochs before fixing or going extinct, its fate is not necessarily determined by its time-averaged selective effect. Instead, environmental variability reduces the efficiency of selection across a broad parameter regime, rendering selection unable to distinguish between mutations that are substantially beneficial and substantially deleterious on average. Temporal fluctuations can also dramatically increase fixation probabilities, often making the details of these fluctuations more important than the average selection pressures acting on each new mutation. For example, mutations that result in a tradeoff between conditions but are strongly deleterious on average can nevertheless be more likely to fix than mutations that are always neutral or beneficial. These effects can have important implications for patterns of molecular evolution in variable environments, and they suggest that it may often be difficult for populations to maintain specialist traits, even when their loss leads to a decline in time-averaged fitness.

# Beyond 2/3 and 1/3: the complex signatures of sex-biased admixture on the X chromosome

Beyond 2/3 and 1/3: the complex signatures of sex-biased admixture on the X chromosome
Amy Goldberg , Noah A Rosenberg
doi: http://dx.doi.org/10.1101/016543

Sex-biased demography, in which parameters governing migration and population size differ between females and males, has been studied through comparisons of X chromosomes, which are inherited sex-specifically, and autosomes, which are not. A common form of sex bias in humans is sex-biased admixture, in which at least one of the source populations differs in its proportions of females and males contributing to an admixed population. Studies of sex-biased admixture often examine the mean ancestry for markers on the X chromosome in relation to the autosomes. A simple framework noting that in a population with equally many females and males, 2/3 of X chromosomes appear in females, suggests that the mean X-chromosomal admixture fraction is a linear combination of female and male admixture parameters, with coefficients 2/3 and 1/3, respectively. Extending a mechanistic admixture model to accommodate the X chromosome, we demonstrate that this prediction is not generally true in admixture models, though it holds in the limit for an admixture process occurring as a single event. For a model with constant ongoing admixture, we determine the mean X-chromosomal admixture, comparing admixture on female and male X chromosomes to corresponding autosomal values. Surprisingly, in reanalyzing African-American genetic data to estimate sex-specific contributions from African and European sources, we find that the range of contributions compatible with the excess African ancestry on the X chromosome compared to autosomes has a wide spread, permitting scenarios either without male-biased contributions from Europe or without female-biased contributions from Africa.

# The Spatial Mixing of Genomes in Secondary Contact Zones

The Spatial Mixing of Genomes in Secondary Contact Zones
Alisa Sedghifar , Yaniv Brandvain , Peter L. Ralph , Graham Coop
doi: http://dx.doi.org/10.1101/016337

Recent genomic studies have highlighted the important role of admixture in shaping genome-wide patterns of diversity. Past admixture leaves a population genomic signature of linkage disequilibrium (LD), reflecting the mixing of parental chromosomes by segregation and recombination. The extent of this LD can be used to infer the timing of admixture. However, the results of inference can depend strongly on the assumed demographic model. Here, we introduce a theoretical framework for modeling patterns of LD in a geographic contact zone where two differentiated populations are diffusing back together. We derive expressions for the expected LD and admixture tract lengths across geographic space as a function of the age of the contact zone and the dispersal distance of individuals. We develop an approach to infer age of contact zones using population genomic data from multiple spatially sampled populations by fitting our model to the decay of LD with recombination distance. We use our approach to explore the fit of a geographic contact zone model to three human population genomic datasets from populations along the Indonesian archipelago, populations in Central Asia and populations in India.

# Coalescent histories for lodgepole species trees

Coalescent histories for lodgepole species trees
Filippo Disanto, Noah A. Rosenberg
Subjects: Populations and Evolution (q-bio.PE); Combinatorics (math.CO)

Coalescent histories are combinatorial structures that describe for a given gene tree and species tree the possible lists of branches of the species tree on which the gene tree coalescences take place. Properties of the number of coalescent histories for gene trees and species trees affect a variety of probabilistic calculations in mathematical phylogenetics. Exact and asymptotic evaluations of the number of coalescent histories, however, are known only in a limited number of cases. Here we introduce a particular family of species trees, the \emph{lodgepole} species trees $(\lambda_n)_{n\geq 0}$, in which tree $\lambda_n$ has $m=2n+1$ taxa. We determine the number of coalescent histories for the lodgepole species trees, in the case that the gene tree matches the species tree, showing that this number grows with $m!!$ in the number of taxa $m$. This computation demonstrates the existence of tree families in which the growth in the number of coalescent histories is faster than exponential. Further, it provides a substantial improvement on the lower bound for the ratio of the largest number of matching coalescent histories to the smallest number of matching coalescent histories for trees with $m$ taxa, increasing a previous bound of $(\sqrt{\pi} / 32)[(5m-12)/(4m-6)] m \sqrt{m}$ to $[ \sqrt{m-1}/(4 \sqrt{e}) ]^{m}$. We discuss the implications of our enumerative results for phylogenetic computations.

# Catch me if you can: Adaptation from standing genetic variation to a moving phenotypic optimum

Catch me if you can: Adaptation from standing genetic variation to a moving phenotypic optimum

Sebastian Matuszewski , Joachim Hermisson , Michael Kopp
doi: http://dx.doi.org/10.1101/015685
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Abstract

Adaptation lies at the heart of Darwinian evolution. Accordingly, numerous studies have tried to provide a formal framework for the description of the adaptive process. Out of these, two complementary modelling approaches have emerged: While so-called adaptive-walk models consider adaptation from the successive fixation of de-novo mutations only, quantitative genetic models assume that adaptation proceeds exclusively from pre-existing standing genetic variation. The latter approach, however, has focused on short-term evolution of population means and variances rather than on the statistical properties of adaptive substitutions. Our aim is to combine these two approaches by describing the ecological and genetic factors that determine the genetic basis of adaptation from standing genetic variation in terms of the effect-size distribution of individual alleles. Specifically, we consider the evolution of a quantitative trait to a gradually changing environment. By means of analytical approximations, we derive the distribution of adaptive substitutions from standing genetic variation, that is, the distribution of the phenotypic effects of those alleles from the standing variation that become fixed during adaptation. Our results are checked against individual-based simulations. We find that, compared to adaptation from de-novo mutations, (i) adaptation from standing variation proceeds by the fixation of more alleles of small effect; (ii) populations that adapt from standing genetic variation can traverse larger distances in phenotype space and, thus, have a higher potential for adaptation if the rate of environmental change is fast rather than slow.

# Partitioning, duality, and linkage disequilibria in the Moran model with recombination

Partitioning, duality, and linkage disequilibria in the Moran model with recombination
Mareike Esser, Sebastian Probst, Ellen Baake
The Moran model with recombination is considered, which describes the evolution of the genetic composition of a population under recombination and resampling. There are $n$ sites (or loci), a finite number of letters (or alleles) at every site, and we do not make any scaling assumptions. In particular, we do not assume a diffusion limit. We consider the following marginal ancestral recombination process. Let $S = \{1,…c,n\}$ and $\mathcal A=\{A_1, …c, A_m\}$ be a partition of $S$. We concentrate on the joint probability of the letters at the sites in $A_1$ in individual $1$, $…c$, at the sites in $A_m$ in individual $m$, where the individuals are sampled from the current population without replacement. Following the ancestry of these sites backwards in time yields a process on the set of partitions of $S$, which, in the diffusion limit, turns into a marginalised version of the $n$-locus ancestral recombination graph. With the help of an inclusion-exclusion principle, we show that the type distribution corresponding to a given partition may be represented in a systematic way, with the help of so-called recombinators and sampling functions. The same is true of correlation functions (known as linkage disequilibria in genetics) of all orders.