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Rxivist combines preprints from bioRxiv with data from Twitter to help you find the papers being discussed in your field. Currently indexing 62,745 bioRxiv papers from 278,406 authors.

Most downloaded bioRxiv papers, all time

in category evolutionary biology

4,154 results found. For more information, click each entry to expand.

81: Genomic architecture and introgression shape a butterfly radiation
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Posted to bioRxiv 08 Nov 2018

Genomic architecture and introgression shape a butterfly radiation
2,184 downloads evolutionary biology

Nathaniel B Edelman, Paul Frandsen, Michael Miyagi, Bernardo J. Clavijo, John Davey, Rebecca Dikow, Gonzalo Garcia Accinelli, Steven Van Belleghem, Nick Patterson, Daniel E. Neafsey, Richard Challis, Sujai Kumar, Gilson Moreira, Camilo Salazar, Mathieu Chouteau, Brian Counterman, Riccardo Papa, Mark Blaxter, Robert Reed, Kanchon Dasmahapatra, Marcus Kronforst, Mathieu Joron, Chris D Jiggins, W. Owen McMillan, Federica Di-Palma, Andrew J. Blumberg, John Wakeley, David Jaffe, James Mallet

We here pioneer a low-cost assembly strategy for 20 Heliconiini genomes to characterize the evolutionary history of the rapidly radiating genus Heliconius. A bifurcating tree provides a poor fit to the data, and we therefore explore a reticulate phylogeny for Heliconius. We probe the genomic architecture of gene flow, and develop a new method to distinguish incomplete lineage sorting from introgression. We find that most loci with non-canonical histories arose through introgression, and are strongly underrepresented in regions of low recombination and high gene density. This is expected if introgressed alleles are more likely to be purged in such regions due to tighter linkage with incompatibility loci. Finally, we identify a hitherto unrecognized inversion, and show it is a convergent structural rearrangement that captures a known color pattern switch locus within the genus. Our multi-genome assembly approach enables an improved understanding of adaptive radiation.

82: Global Epistasis Makes Adaptation Predictable Despite Sequence-Level Stochasticity
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Posted to bioRxiv 13 Jan 2014

Global Epistasis Makes Adaptation Predictable Despite Sequence-Level Stochasticity
2,175 downloads evolutionary biology

Sergey Kryazhimskiy, Daniel Paul Rice, Elizabeth Jerison, Michael M Desai

Epistasis can make adaptation highly unpredictable, rendering evolutionary trajectories contingent on the chance effects of initial mutations. We used experimental evolution in Saccharomyces cerevisiae to quantify this effect, finding dramatic differences in adaptability between 64 closely related genotypes. Despite these differences, sequencing of 105 evolved clones showed no significant effect of initial genotype on future sequence-level evolution. Instead, reconstruction experiments revealed a consistent pattern of diminishing returns epistasis. Our results suggest that many beneficial mutations affecting a variety of biological processes are globally coupled: they interact strongly, but only through their combined effect on fitness. Sequence-level adaptation is thus highly stochastic. Nevertheless, fitness evolution is strikingly predictable because differences in adaptability are determined only by global fitness-mediated epistasis, not by the identity of individual mutations.

83: Tempo and mode of genome evolution in a 50,000-generation experiment
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Posted to bioRxiv 15 Jan 2016

Tempo and mode of genome evolution in a 50,000-generation experiment
2,165 downloads evolutionary biology

Olivier Tenaillon, Jeffrey E. Barrick, Noah Ribeck, Daniel E. Deatherage, Jeffrey L. Blanchard, Aurko Dasgupta, Gabriel C. Wu, Sébastien Wielgoss, Stéphane Cruveiller, Claudine Médigue, Dominique Schneider, Richard E. Lenski

Adaptation depends on the rates, effects, and interactions of many mutations. We analyzed 264 genomes from 12 Escherichia coli populations to characterize their dynamics over 50,000 generations. The trajectories for genome evolution in populations that retained the ancestral mutation rate fit a model where most fixed mutations are beneficial, the fraction of beneficial mutations declines as fitness rises, and neutral mutations accumulate at a constant rate. We also compared these populations to lines evolved under a mutation-accumulation regime that minimizes selection. Nonsynonymous mutations, intergenic mutations, insertions, and deletions are overrepresented in the long-term populations, supporting the inference that most fixed mutations are favored by selection. These results illuminate the shifting balance of forces that govern genome evolution in populations adapting to a new environment.

84: Male sex pheromone components in Heliconius butterflies released by the androconia affect female choice
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Posted to bioRxiv 02 Dec 2015

Male sex pheromone components in Heliconius butterflies released by the androconia affect female choice
2,152 downloads evolutionary biology

Kathy Darragh, Sohini Vanjari, Florian Mann, Maria F Gonzalez-R, Colin R Morrison, Camilo Salazar, Carolina Pardo-Diaz, Richard M Merrill, W. Owen McMillan, Stefan Schulz, Chris D Jiggins

Sex specific pheromones are known to play an important role in butterfly courtship, and may influence both individual reproductive success and reproductive isolation between species. Extensive ecological, behavioural and genetic studies of Heliconius butterflies have made a substantial contribution to our understanding of speciation. However, although long suspected to play an important role, chemical signals have received relatively little attention in this genus. Here, we combine morphological, chemical and behavioural analyses of a male pheromone in the neotropical butterfly Heliconius melpomene. First we identify specialized brush-like scales that are putative androconia, and lie within the shiny grey region found on the hindwing of males. We then describe six putative male sex pheromone compounds, which are largely confined to the androconial region of the hindwing of mature males, but not immature males or females. Finally, behavioural assays reveal subtle, but detectable, differences in female response to models scented with hindwing androconial extracts of mature conspecific males as compared to unscented controls. Collectively, the results describe structures involved in release of the pheromone and a list of potential male sex pheromone compounds triggering a behavioural response in females.

85: Evolution of resistance against CRISPR/Cas9 gene drive
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Posted to bioRxiv 11 Jun 2016

Evolution of resistance against CRISPR/Cas9 gene drive
2,151 downloads evolutionary biology

Robert L Unckless, Andrew G. Clark, Philipp W Messer

The idea of driving genetically modified alleles to fixation in a population has fascinated scientists for over 40 years. Potential applications are broad and ambitious, including the eradication of disease vectors, the control of pest species, and the preservation of endangered species from extinction. Until recently, these possibilities have remained largely abstract due to the lack of an effective drive mechanism. CRISPR/Cas9 gene drive (CGD) now promise a highly adaptable approach for driving even deleterious alleles to high population frequency, and this approach was recently shown to be effective in small laboratory populations of insects. However, it remains unclear whether CGD will also work in large natural populations in the face of potential resistance mechanisms. Here we show that resistance against CGD will inevitably evolve unless populations are small and repair of CGD-induced cleavage via nonhomologous end joining (NHEJ) can be effectively suppressed, or resistance costs are on par with those of the driver. We specifically calculate the probability that resistance evolves from variants at the target site that are not recognized by the driver's guide RNA, either because they are already present when the driver allele is introduced, arise by de novo mutation, or are created by the driver itself when NHEJ introduces mutations at the target site. Our results shed light on strategies that could facilitate the engineering of a successful drive by lowering resistance potential, as well as strategies that could promote resistance as a possible mechanism for controlling a drive. This study highlights the need for careful modeling of CGD prior to the actual release of a driver construct into the wild.

86: Population-genomic inference of the strength and timing of selection against gene flow
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Posted to bioRxiv 31 Aug 2016

Population-genomic inference of the strength and timing of selection against gene flow
2,137 downloads evolutionary biology

Simon Aeschbacher, Jessica P Selby, John H. Willis, Graham Coop

The interplay of divergent selection and gene flow is key to understanding how populations adapt to local environments and how new species form. Here, we use DNA polymorphism data and genome-wide variation in recombination rate to jointly infer the strength and timing of selection, as well as the baseline level of gene flow under various demographic scenarios. We model how divergent selection leads to a genome-wide negative correlation between recombination rate and genetic differentiation among populations. Our theory shows that the selection density, i.e. the selection coefficient per base pair, is a key parameter underlying this relationship. We then develop a procedure for parameter estimation that accounts for the confounding effect of background selection. Applying this method to two datasets from Mimulus guttatus, we infer a strong signal of adaptive divergence in the face of gene flow between populations growing on and off phytotoxic serpentine soils. However, the genome-wide intensity of this selection is not exceptional compared to what M. guttatus populations may typically experience when adapting to local conditions. We also find that selection against genome-wide introgression from the selfing sister species M. nasutus has acted to maintain a barrier between these two species over at least the last 250 ky. Our study provides a theoretical framework for linking genome-wide patterns of divergence and recombination with the underlying evolutionary mechanisms that drive this differentiation.

87: Evolution and coexistence in response to a key innovation in a long-term evolution experiment with Escherichia coli
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Posted to bioRxiv 17 Jun 2015

Evolution and coexistence in response to a key innovation in a long-term evolution experiment with Escherichia coli
2,135 downloads evolutionary biology

Caroline B. Turner, Zachary D. Blount, Daniel H. Mitchell, Richard E. Lenski

Evolution of a novel function can greatly alter the effects of an organism on its environment. These environmental changes can, in turn, affect the further evolution of that organism and any coexisting organisms. We examine these effects and feedbacks following evolution of a novel function in the long-term evolution experiment (LTEE) with Escherichia coli. A characteristic feature of E. coli is its inability to consume citrate aerobically. However, that ability evolved in one of the LTEE populations. In this population, citrate-utilizing bacteria (Cit+) coexisted stably with another clade of bacteria that lacked the capacity to utilize citrate (Cit−). This coexistence was shaped by the evolution of a cross-feeding relationship in which Cit+ cells released the dicarboxylic acids succinate, fumarate, and malate into the medium, and Cit− cells evolved improved growth on these carbon sources, as did the Cit+ cells. Thus, the evolution of citrate consumption led to a flask-based ecosystem that went from a single limiting resource, glucose, to one with five resources either shared or partitioned between two coexisting clades. Our findings show how evolutionary novelties can change environmental conditions, thereby facilitating diversity and altering both the structure of an ecosystem and the evolutionary trajectories of coexisting organisms.

88: Comparative evidence for the independent evolution of hair and sweat gland traits in primates
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Posted to bioRxiv 29 Sep 2018

Comparative evidence for the independent evolution of hair and sweat gland traits in primates
2,104 downloads evolutionary biology

Yana G Kamberov, Samantha M Guhan, Alessandra DeMarchis, Judy Jiang, Sara Sherwood Wright, Bruce A Morgan, Pardis C Sabeti, Clifford J. Tabin, Daniel E Lieberman

Humans differ in many respects from other primates, but perhaps no derived human feature is more striking than our naked skin. Long purported to be adaptive, our species' unique external appearance is characterized by changes in both the patterning of hair follicles and eccrine sweat glands, producing decreased hair cover and increased sweat gland density. Despite the conspicuousness of these features and their potential evolutionary importance, there is a lack of clarity regarding how they evolved within the primate lineage. We thus collected and quantified the density of hair follicles and eccrine sweat glands from five regions of the skin in three species of primates: macaque, chimpanzee and human. Although human hair cover is greatly attenuated relative to that of our close relatives, we find that humans have a chimpanzee-like hair density that is significantly lower than that of macaques. In contrast, eccrine gland density is on average 10-fold higher in humans compared to chimpanzees and macaques, whose density is strikingly similar. Our findings suggest that a decrease in hair density in the ancestors of humans and apes was followed by an increase in eccrine gland density and a reduction in fur cover in humans. This work answers long-standing questions about the traits that make human skin unique and substantiates a model in which the evolution of expanded eccrine gland density was exclusive to the human lineage.

89: Inferring Continuous and Discrete Population Genetic Structure Across Space
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Posted to bioRxiv 15 Sep 2017

Inferring Continuous and Discrete Population Genetic Structure Across Space
2,098 downloads evolutionary biology

Gideon S. Bradburd, Graham M. Coop, Peter L Ralph

A classic problem in population genetics is the characterization of discrete population structure in the presence of continuous patterns of genetic differentiation. Especially when sampling is discontinuous, the use of clustering or assignment methods may incorrectly ascribe differentiation due to continuous processes (e.g., geographic isolation by distance) to discrete processes, such as geographic, ecological, or reproductive barriers between populations. This reflects a shortcoming of current methods for inferring and visualizing population structure when applied to genetic data deriving from geographically distributed populations. Here, we present a statistical framework for the simultaneous inference of continuous and discrete patterns of population structure. The method estimates ancestry proportions for each sample from a set of two-dimensional population layers, and, within each layer, estimates a rate at which relatedness decays with distance. This thereby explicitly addresses the “clines versus cluster” problem in modeling population genetic variation. The method produces useful descriptions of structure in genetic relatedness in situations where separated, geographically distributed populations interact, as after a range expansion or secondary contact. We demonstrate the utility of this approach using simulations and by applying it to empirical datasets of poplars and black bears in North America.

90: Inferring Phylogenetic Networks Using PhyloNet
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Posted to bioRxiv 22 Dec 2017

Inferring Phylogenetic Networks Using PhyloNet
2,073 downloads evolutionary biology

Dingqiao Wen, Yun Yu, Jiafan Zhu, Luay Nakhleh

PhyloNet was released in 2008 as a software package for representing and analyzing phylogenetic networks. At the time of its release, the main functionalities in PhyloNet consisted of measures for comparing network topologies and a single heuristic for reconciling gene trees with a species tree. Since then, PhyloNet has grown significantly. The software package now includes a wide array of methods for inferring phylogenetic networks from data sets of unlinked loci while accounting for both reticulation (e.g., hybridization) and incomplete lineage sorting. In particular, PhyloNet now allows for maximum parsimony, maximum likelihood, and Bayesian inference of phylogenetic networks from gene tree estimates. Furthermore, Bayesian inference directly from sequence data (sequence alignments or bi-allelic markers) is implemented. Maximum parsimony is based on an extension of the "minimizing deep coalescences" criterion to phylogenetic networks, whereas maximum likelihood and Bayesian inference are based on the multispecies network coalescent. All methods allow for multiple individuals per species. As computing the likelihood of a phylogenetic network is computationally hard, PhyloNet allows for evaluation and inference of networks using a pseudo-likelihood measure. PhyloNet summarizes the results of the various analyses, and generates phylogenetic networks in the extended Newick format that is readily viewable by existing visualization software.

91: Genetic evidence for natural selection in humans in the contemporary United States
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Posted to bioRxiv 05 May 2016

Genetic evidence for natural selection in humans in the contemporary United States
2,036 downloads evolutionary biology

Jonathan Beauchamp

Recent findings from molecular genetics now make it possible to test directly for natural selection by analyzing whether genetic variants associated with various phenotypes have been under selection. I leverage these findings to construct polygenic scores that use individuals' genotypes to predict their body mass index, educational attainment (EA), glucose concentration, height, schizophrenia, total cholesterol, and (in females) age at menarche. I then examine associations between these scores and fitness to test whether natural selection has been occurring. My study sample includes individuals of European ancestry born between 1931 and 1953 in the Health and Retirement Study, a representative study of the US population. My results imply that natural selection has been slowly favoring lower EA in both females and males, and are suggestive that natural selection may have favored a higher age at menarche in females. For EA, my estimates imply a rate of selection of about -1.5 months of education per generation (which pales in comparison with the increases in EA observed in contemporary times). Though they cannot be projected over more than one generation, my results provide additional evidence that humans are still evolving--albeit slowly, especially when compared to the rapid secular changes that have occurred over the past few generations due to cultural and environmental factors.

92: Random Sequences Rapidly Evolve Into De Novo Promoters
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Posted to bioRxiv 09 May 2017

Random Sequences Rapidly Evolve Into De Novo Promoters
2,036 downloads evolutionary biology

Avihu H. Yona, Eric J. Alm, Jeff Gore

How do new promoters evolve? To follow evolution of de novo promoters, we put various random sequences upstream to the lac operon in Escherichia coli and evolved the cells in the presence of lactose. We found that a typical random sequence of ~100 bases requires only one mutation in order to enable growth on lactose by increasing resemblance to the canonical promoter motifs. We further found that ~10% of random sequences could serve as active promoters even without any period of evolutionary adaptation. Such a short mutational distance from a random sequence to an active promoter may improve evolvability yet may also lead to undesirable accidental expression. We found that across the E. coli genome accidental expression is minimized by avoiding codon combinations that resemble promoter motifs. Our results suggest that the promoter recognition machinery has been tuned to allow high accessibility to new promoters, and similar findings might also be observed in higher organisms or in other motif recognition machineries, like transcription factor binding sites or protein-protein interactions.

93: Massively parallel dissection of human accelerated regions in human and chimpanzee neural progenitors
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Posted to bioRxiv 29 Jan 2018

Massively parallel dissection of human accelerated regions in human and chimpanzee neural progenitors
2,033 downloads evolutionary biology

Hane Ryu, Fumitaka Inoue, Sean Whalen, Alex Williams, Martin Kircher, Beth Martin, Beatriz Alvarado, Md. Abul Hassan Samee, Kathleen Keough, Sean Thomas, Arnold Kriegstein, Jay Shendure, Alex Pollen, Nadav Ahituv, Katherine S Pollard

How mutations in gene regulatory elements lead to evolutionary changes remains largely unknown. Human accelerated regions (HARs) are ideal for exploring this question, because they are associated with human-specific traits and contain multiple human-specific variants at sites conserved across mammals, suggesting that they alter or compensate to preserve function. We performed massively parallel reporter assays on all human and chimpanzee HAR sequences in human and chimpanzee iPSC-derived neural progenitors at two differentiation stages. Forty-three percent (306/714) of HARs function as neuronal enhancers, with two-thirds (204/306) showing consistent changes in activity between human and chimpanzee sequences. These changes were almost all sequence dependent and not affected by cell species or differentiation stage. We tested all evolutionary intermediates between human and chimpanzee sequences of seven HARs, finding variants that interact both positively and negatively. This study shows that variants acquired during human evolution interact to buffer and amplify changes to enhancer function.

94: Late mitochondrial origin is pure artefact
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Posted to bioRxiv 25 May 2016

Late mitochondrial origin is pure artefact
2,030 downloads evolutionary biology

William F. Martin, Mayo Roettger, Chuan Ku, Sriram G. Garg, Shijulal Nelson-Sathi, Giddy Landan

Pittis and Gabaldon(1) recently claimed that the mitochondrion came late in eukaryotic evolution, following an earlier phase of evolution in which the eukaryotic host lineage acquired genes from bacteria. Here we show that their paper has multiple fatal flaws founded in inappropriate statistical methods and analyses, in addition to erroneous interpretations.

95: Convergent regulatory evolution and the origin of flightlessness in palaeognathous birds
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Posted to bioRxiv 08 Feb 2018

Convergent regulatory evolution and the origin of flightlessness in palaeognathous birds
2,027 downloads evolutionary biology

Timothy B Sackton, Phil Grayson, Alison Cloutier, Zhirui Hu, Jun S. Liu, Nicole E. Wheeler, Paul P. Gardner, Julia A. Clarke, Allan J. Baker, Michele Clamp, Scott V. Edwards

The relative roles of regulatory and protein evolution in the origin and loss of convergent phenotypic traits is a core question in evolutionary biology. Here we combine phylogenomic, epigenomic and developmental data to show that convergent evolution of regulatory regions, but not protein-coding genes, is associated with flightlessness in palaeognathous birds, a classic example of a convergent phenotype. Eleven new genomes, including a draft genome from an extinct moa, resolve palaeognath phylogeny and show that the incidence of independent, convergent accelerations among 284,000 conserved non-exonic elements is significantly more frequent in ratites than other bird lineages. Ratite-specific acceleration of conserved regions and measures of open chromatin across eight tissues in the developing chick identify candidate regulatory regions that may have modified or lost function in ratites. Enhancer activity assays conducted in the early developing chicken forelimb confirm that volant versions of a conserved element in the first intron of the TEAD1 gene display conserved enhancer activity, whereas an accelerated flightless version fails to drive reporter gene expression. Our results show that convergent molecular changes associated with loss of flight are largely regulatory in nature.

96: Inferring the landscape of recombination using recurrent neural networks
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Posted to bioRxiv 06 Jun 2019

Inferring the landscape of recombination using recurrent neural networks
2,011 downloads evolutionary biology

Jeffrey R. Adrion, Jared G. Galloway, Andrew D Kern

Accurately inferring the genome-wide landscape of recombination rates in natural populations is a central aim in genomics, as patterns of linkage influence everything from genetic mapping to understanding evolutionary history. Here we describe ReLERNN, a deep learning method for accurately estimating a genome-wide recombination landscape using as few as four samples. Rather than use summaries of linkage disequilibrium as its input, ReLERNN considers columns from a genotype alignment, which are then modeled as a sequence across the genome using a recurrent neural network. We demonstrate that ReLERNN improves accuracy and reduces bias relative to existing methods and maintains high accuracy in the face of demographic model misspecification. We apply ReLERNN to natural populations of African Drosophila melanogaster and show that genome-wide recombination landscapes, while largely correlated among populations, exhibit important population-specific differences. Lastly, we connect the inferred patterns of recombination with the frequencies of major inversions segregating in natural Drosophila populations.

97: Comparing RADseq and microsatellites to infer complex phylogeographic patterns, a real data informed perspective in the Crucian carp, Carassius carassius, L.
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Posted to bioRxiv 02 Sep 2015

Comparing RADseq and microsatellites to infer complex phylogeographic patterns, a real data informed perspective in the Crucian carp, Carassius carassius, L.
2,009 downloads evolutionary biology

Daniel L Jeffries, Gordon H Copp, Lori Lawson Handley, K. Håkan Olsén, Carl D Sayer, Bernd Hänfling

The conservation of threatened species must be underpinned by phylogeographic knowledge in order to be effective. This need is epitomised by the freshwater fish Carassius carassius, which has recently undergone drastic declines across much of its European range. Restriction Site Associated DNA sequencing (RADseq) is being increasingly used for such phylogeographic questions, however RADseq is expensive, and limitations on sample number must be weighed against the benefit of large numbers of markers. Such tradeoffs have predominantly been addressed using simulated data. Here we compare the results generated from microsatellites and RADseq to the phylogeography of C. carassius, to add real-data-informed perspectives to this important debate. These datasets, along with data from the mitochondrial cytochrome b gene, agree on broad phylogeographic patterns; showing the existence of two previously unidentified C. carassius lineages in Europe. These lineages have been isolated for approximately 2.2-2.3 M years, and should arguably be considered as separate conservation units. RADseq recovered finer population structure and stronger patterns of IBD than microsatellites, despite including only 17.6% of samples (38% of populations and 52% of samples per population). RADseq was also used along with Approximate Bayesian Computation to show that the postglacial colonisation routes of C. carassius differ from the general patterns of freshwater fish in Europe, likely as a result of their distinctive ecology.

98: Sex-dependent dominance at a single locus maintains variation in age at maturity in Atlantic salmon
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Posted to bioRxiv 17 Aug 2015

Sex-dependent dominance at a single locus maintains variation in age at maturity in Atlantic salmon
2,002 downloads evolutionary biology

Nicola J Barson, Tutku Aykanat, Kjetil Hindar, Matthew Baranski, Geir H Bolstad, Peder Fiske, Céleste Jacq, Arne J. Jensen, Susan E Johnston, Sten Karlsoon, Matthew Kent, Eero Niemelä, Torfinn Nome, Tor F. Næsje, Panu Orell, Atso Romakkaniemi, Harald Sægrov, Kurt Urdal, Jaakko Erkinaro, Sigbjørn Lien, Craig R Primmer

Males and females share many traits that have a common genetic basis, however selection on these traits often differs between the sexes leading to sexual conflict. Under such sexual antagonism, theory predicts the evolution of genetic architectures that resolve this sexual conflict. Yet, despite intense theoretical and empirical interest, the specific genetic loci behind sexually antagonistic phenotypes have rarely been identified, limiting our understanding of how sexual conflict impacts genome evolution and the maintenance of genetic diversity. Here, we identify a large effect locus controlling age at maturity in 57 salmon populations, an important fitness trait in which selection favours earlier maturation in males than females, and show it is a clear example of sex dependent dominance reducing intralocus sexual conflict and maintaining adaptive variation in wild populations. Using high density SNP data and whole genome re-sequencing, we found that vestigial-like family member 3 (VGLL3) exhibits sex-dependent dominance in salmon, promoting earlier and later maturation in males and females, respectively. VGLL3, an adiposity regulator associated with size and age at maturity in humans, explained 39.4% of phenotypic variation, an unexpectedly high effect size for what is usually considered a highly polygenic trait. Such large effects are predicted under balancing selection from either sexually antagonistic or spatially varying selection. Our results provide the first empirical example of dominance reversal permitting greater optimisation of phenotypes within each sex, contributing to the resolution of sexual conflict in a major and widespread evolutionary trade-off between age and size at maturity. They also provide key empirical evidence for how variation in reproductive strategies can be maintained over large geographical scales. We further anticipate these findings will have a substantial impact on population management in a range of harvested species where trends towards earlier maturation have been observed

99: Archaic adaptive introgression in TBX15/WARS2
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Posted to bioRxiv 08 Dec 2015

Archaic adaptive introgression in TBX15/WARS2
1,992 downloads evolutionary biology

Fernando Racimo, David Gokhman, Matteo Fumagalli, Amy Ko, Torben Hansen, Ida Moltke, Anders Albrechtsen, Liran Carmel, Emilia Huerta-Sánchez, Rasmus Nielsen

A recent study conducted the first genome-wide scan for selection in Inuit from Greenland using SNP chip data. Here, we report that selection in the region with the second most extreme signal of positive selection in Greenlandic Inuit favored a deeply divergent haplotype that is closely related to the sequence in the Denisovan genome, and was likely introgressed from an archaic population. The region contains two genes, WARS2 and TBX15, and has previously been associated with adipose tissue differentiation and body-fat distribution in humans. We show that the adaptively introgressed allele has been under selection in a much larger geographic region than just Greenland. Furthermore, it is associated with changes in expression of WARS2 and TBX15 in multiple tissues including the adrenal gland and subcutaneous adipose tissue, and with regional DNA methylation changes in TBX15.

100: Blockwise Site Frequency Spectra for Inferring Complex Population Histories and Recombination
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Posted to bioRxiv 28 Sep 2016

Blockwise Site Frequency Spectra for Inferring Complex Population Histories and Recombination
1,987 downloads evolutionary biology

Champak R. Beeravolu, Michael J. Hickerson, Laurent A.F. Frantz, Konrad Lohse

We introduce ABLE (Approximate Blockwise Likelihood Estimation), a novel composite likelihood framework based on a recently introduced summary of sequence variation: the blockwise site frequency spectrum (bSFS). This simulation-based framework uses the the frequencies of bSFS configurations to jointly model demographic history and recombination and is explicitly designed to make inference using multiple whole genomes or genome-wide multi-locus data (e.g. RADSeq) catering to the needs of researchers studying model or non-model organisms respectively. The flexible nature of our method further allows for arbitrarily complex population histories using unphased and unpolarized whole genome sequences. In silico experiments demonstrate accurate parameter estimates across a range of divergence models with increasing complexity, and as a proof of principle, we infer the demographic history of the two species of orangutan from multiple genome sequences (over 160 Mbp in length) from each species. Our results indicate that the two orangutan species split approximately 650-950 thousand years ago but experienced a pulse of secondary contact much more recently, most likely during a period of low sea-level South East Asia (~300,000 years ago). Unlike previous analyses we can reject a history of continuous gene flow and co-estimate genome-wide recombination. ABLE is available for download at https://github.com/champost/ABLE.

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