Understanding how and why populations evolve is of fundamental importance to molecular ecology. Restriction site-associated DNA sequencing (RADseq), a popular reduced representation method, has ushered in a new era of genome-scale research for assessing population structure, hybridization, demographic history, phylogeography and migration. RADseq has also been widely used to conduct genome scans to detect loci involved in adaptive divergence among natural populations. Here, we examine the capacity of those RADseq-based genome scan studies to detect loci involved in local adaptation. To understand what proportion of the genome is missed by RADseq studies, we developed a simple model using different numbers of RAD-tags, genome sizes and extents of linkage disequilibrium (length of haplotype blocks). Under the best-case modelling scenario, we found that RADseq using six- or eight-base pair cutting restriction enzymes would fail to sample many regions of the genome, especially for species with short linkage disequilibrium. We then surveyed recent studies that have used RADseq for genome scans and found that the median density of markers across these studies was 4.08 RAD-tag markers per megabase (one marker per 245 kb). The length of linkage disequilibrium for many species is one to three orders of magnitude less than density of the typical recent RADseq study. Thus, we conclude that genome scans based on RADseq data alone, while useful for studies of neutral genetic variation and genetic population structure, will likely miss many loci under selection in studies of local adaptation.
Understanding how and why populations evolve is of fundamental importance to molecular ecology. Restriction site-associated DNA sequencing (RADseq), a popular reduced representation method, has ushered in a new era of genome-scale research for assessing population structure, hybridization, demographic history, phylogeography and migration. RADseq has also been widely used to conduct genome scans to detect loci involved in adaptive divergence among natural Correspondence: David B. Lowry, Fax: 517-353-1926; dlowry@msu.edu. Correction noteThe original advance online paper contained two errors associated with the calculation of the median density of RAD-seq tags in the survey of recent RAD-seq genome scan studies (Table S1). The first error was in the size of the assembled stickleback genome, which was reported as 0.53 Gbp, but should have been 0.46 Gbp. The second error was an accidental inversion of terms. These two mistakes contributed to an erroneous statement in the original abstract that the median density of RAD-tags across recent studies "was one marker per 3.96 megabases." The statement has been revised to read: "was 4.08 RAD-tag markers per megabase." Following these corrections, changes were made in the abstract and elsewhere in the paper to reflect a modified interpretation of the results, though we note the main arguments in the article are unaffected. Other minor modifications to the paper were made based upon suggestions by the editors of Molecular Ecology Resources. This version of the article, published as an "accepted article" on 12 November 2016 under DOI 10.1111/1755-0998.12635 replaces the original version of the article published on 12 September 2016 under DOI 10.1111/1755-0998.12596.The idea for the manuscript was conceived collectively by all authors during an NSF National Institute for Mathematical and Biological Synthesis (NIMBioS) working group. All authors contributed to the writing of the manuscript.Supporting Information Additional Supporting Information may be found in the online version of this article: Appendix S1 Supplementary R scripts for Breaking RAD. Table S1 Recent (January 2015 to April 2016) genome scan studies, which used RAD-seq for genotyping. Andrews et al. (2016). Generally, RADseq methods produce DNA libraries for high-throughput sequencing using restriction enzymes that cut at specific motifs throughout the genome. RADseq markers come in the form of RAD-tags, which are short-read sequences adjacent to restriction enzyme cut sites. Because many polymorphic markers are produced by RADseq, it has frequently been used successfully for population genetic analyses, including assessment of population structure, hybridization, demographic history, phylogeography and migration (Catchen et al. 2013;Cavender-Bares et al. 2015;Combosch & Vollmer 2015;Qi et al. 2015). Markers generated by RADseq have also been quite useful for constructing linkage maps and identifying quantitative trait loci (QTL;Pfender et al. 2011;Houston et al. 2012;Weber et al. 2013;Laporte et al. 2015...
Among terrestrial organisms, arthropods are especially susceptible to dehydration, given their small body size and high surface area to volume ratio. This challenge is particularly acute for polar arthropods that face near-constant desiccating conditions, as water is frozen and thus unavailable for much of the year. The molecular mechanisms that govern extreme dehydration tolerance in insects remain largely undefined. In this study, we used RNA sequencing to quantify transcriptional mechanisms of extreme dehydration tolerance in the Antarctic midge, Belgica antarctica, the world's southernmost insect and only insect endemic to Antarctica. Larvae of B. antarctica are remarkably tolerant of dehydration, surviving losses up to 70% of their body water. Gene expression changes in response to dehydration indicated up-regulation of cellular recycling pathways including the ubiquitin-mediated proteasome and autophagy, with concurrent down-regulation of genes involved in general metabolism and ATP production. Metabolomics results revealed shifts in metabolite pools that correlated closely with changes in gene expression, indicating that coordinated changes in gene expression and metabolism are a critical component of the dehydration response. Finally, using comparative genomics, we compared our gene expression results with a transcriptomic dataset for the Arctic collembolan, Megaphorura arctica. Although B. antarctica and M. arctica are adapted to similar environments, our analysis indicated very little overlap in expression profiles between these two arthropods. Whereas several orthologous genes showed similar expression patterns, transcriptional changes were largely species specific, indicating these polar arthropods have developed distinct transcriptional mechanisms to cope with similar desiccating conditions. physiological ecology | environmental stress
The unique inheritance pattern of the X chromosome exposes it to natural selection in a way that is different from that of the autosomes, potentially resulting in accelerated evolution. We perform a comparative analysis of X chromosome polymorphism in 10 great ape species, including humans. In most species, we identify striking megabase-wide regions, where nucleotide diversity is less than 20% of the chromosomal average. Such regions are found exclusively on the X chromosome. The regions overlap partially among species, suggesting that the underlying targets are partly shared among species. The regions have higher proportions of singleton SNPs, higher levels of population differentiation, and a higher nonsynonymous-to-synonymous substitution ratio than the rest of the X chromosome. We show that the extent to which diversity is reduced is incompatible with direct selection or the action of background selection and soft selective sweeps alone, and therefore, we suggest that very strong selective sweeps have independently targeted these specific regions in several species. The only genomic feature that we can identify as strongly associated with loss of diversity is the location of testis-expressed ampliconic genes, which also have reduced diversity around them. We hypothesize that these genes may be responsible for selective sweeps in the form of meiotic drive caused by an intragenomic conflict in male meiosis. X-chromosome evolution | great apes | selective sweeps | ampliconic genes | meiotic drive
Hydrogen sulfide (H2S) is a respiratory toxicant that creates extreme environments tolerated by few organisms. H2S is also produced endogenously by metazoans and plays a role in cell signaling. The mechanisms of H2S toxicity and its physiological functions serve as a basis to discuss the multifarious strategies that allow animals to survive in H2S-rich environments. Despite their toxicity, H2S-rich environments also provide ecological opportunities, and complex selective regimes of covarying abiotic and biotic factors drive trait evolution in organisms inhabiting H2S-rich environments. Furthermore, adaptation to H2S-rich environments can drive speciation, giving rise to biodiversity hot spots with high levels of endemism in deep-sea hydrothermal vents, cold seeps, and freshwater sulfide springs. The diversity of H2S-rich environments and their inhabitants provides ideal systems for comparative studies of the effects of a clear-cut source of selection across vast geographic and phylogenetic scales, ultimately informing our understanding of how environmental stressors affect ecological and evolutionary processes.
Extreme environments test the limits of life; yet, some organisms thrive in harsh conditions. Extremophile lineages inspire questions about how organisms can tolerate physiochemical stressors and whether the repeated colonization of extreme environments is facilitated by predictable and repeatable evolutionary innovations. We identified the mechanistic basis underlying convergent evolution of tolerance to hydrogen sulfide (H2S)—a toxicant that impairs mitochondrial function—across evolutionarily independent lineages of a fish (Poecilia mexicana, Poeciliidae) from H2S-rich springs. Using comparative biochemical and physiological analyses, we found that mitochondrial function is maintained in the presence of H2S in sulfide spring P. mexicana but not ancestral lineages from nonsulfidic habitats due to convergent adaptations in the primary toxicity target and a major detoxification enzyme. Genome-wide local ancestry analyses indicated that convergent evolution of increased H2S tolerance in different populations is likely caused by a combination of selection on standing genetic variation and de novo mutations. On a macroevolutionary scale, H2S tolerance in 10 independent lineages of sulfide spring fishes across multiple genera of Poeciliidae is correlated with the convergent modification and expression changes in genes associated with H2S toxicity and detoxification. Our results demonstrate that the modification of highly conserved physiological pathways associated with essential mitochondrial processes mediates tolerance to physiochemical stress. In addition, the same pathways, genes, and—in some instances—codons are implicated in H2S adaptation in lineages that span 40 million years of evolution.
We investigated the possibility of positive selection acting on members of the putative seven-pass chemoreceptor superfamily in Caenorhabditis elegans, which comprises Ϸ1,300 genes encoding seven-pass G protein-coupled receptors (GPCRs). Using a maximum-likelihood approach, we conducted statistical tests for evidence of codon sites where the ratio of nonsynonymous substitutions per nonsynonymous site to synonymous substitutions per synonymous site (d N͞dS) was >1. Evidence for positive selection was found only for the srz family, about which virtually nothing specific is known. We extended the annotation of the srz gene family, establishing gene models for 60 srz genes in C. elegans and 28 srz genes in Caenorhabditis briggsae. d N͞dS ratios varied dramatically in different regions of the SRZ proteins, peaking in predicted extracellular regions. These regions included 23 sites where evidence of positive selection was highly significant, corresponding remarkably well with regions implicated in ligand binding in other GPCR family members. We interpret these results as indicating that the srz family is under positive selection, probably driven by ligand binding.positive selection ͉ ligand binding ͉ maximum likelihood ͉ synonymous ͉ nonsynonymous C aenorhabditis elegans has Ϸ1,300 predicted genes that encode members of putative chemosensory receptors and together define the seven-pass receptor (SR) superfamily (1-4), which belongs to the broader class of G protein-coupled receptors (GPCRs). Based on sequence alignment and phylogenetic analysis, SR superfamily members fall into about a dozen families. These families range in size from the large srh and str families (a few hundred genes each) to the modestly sized sra and srv families (Ϸ30 genes each). Each SR family appears to have arisen by gene duplication and divergence from a founder gene. These duplications have occurred sporadically over a long evolutionary period, giving rise to complex relationships. Near one extreme, str-5 and str-6 result from a recent duplication and differ by only two nucleotides in their coding regions. Near the other extreme, the str-1 and str-47 proteins are only 19% identical and presumably arose from an ancient duplication. Members of different SR families are even more distantly related, with the most distant pairs barely alignable.Proteins in the SR superfamily appear to be more rapidly diverging than the average gene (2, 3, 5, 6). For example, the average ortholog pair between C. elegans and Caenorhabditis briggsae has 80% amino acid identity (5), whereas the average str pair from the same data set has 59% identity (J.H.T., unpublished data). Rapidly diverging proteins may result from relaxed selective constraints, in which changes in protein sequence are relatively well tolerated. Alternatively, they may result from selective pressure for changes in amino acid sequence (positive selection or diversifying selection). In extreme cases, positive selection acts on all or most of a protein and can be detected in pairwise d N ͞d S ratio...
Landscape genomics studies focus on identifying candidate genes under selection via spatial variation in abiotic environmental variables, but rarely by biotic factors (i.e., disease). The Tasmanian devil (Sarcophilus harrisii) is found only on the environmentally heterogeneous island of Tasmania and is threatened with extinction by a transmissible cancer, devil facial tumor disease (DFTD). Devils persist in regions of long‐term infection despite epidemiological model predictions of species’ extinction, suggesting possible adaptation to DFTD. Here, we test the extent to which spatial variation and genetic diversity are associated with the abiotic environment (i.e., climatic variables, elevation, vegetation cover) and/or DFTD. We employ genetic‐environment association analyses using 6886 SNPs from 3287 individuals sampled pre‐ and post‐disease arrival across the devil's geographic range. Pre‐disease, we find significant correlations of allele frequencies with environmental variables, including 365 unique loci linked to 71 genes, suggesting local adaptation to abiotic environment. The majority of candidate loci detected pre‐DFTD are not detected post‐DFTD arrival. Several post‐DFTD candidate loci are associated with disease prevalence and were in linkage disequilibrium with genes involved in tumor suppression and immune response. Loss of apparent signal of abiotic local adaptation post‐disease suggests swamping by strong selection resulting from the rapid onset of DFTD.
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