scholarly journals Molecular adaptation in Rubisco: discriminating between convergent evolution and positive selection using mechanistic and classical codon models

2016 ◽  
Author(s):  
Sahar Parto ◽  
Nicolas Lartillot
Keyword(s):  
Positive Selection ◽  
Convergent Evolution ◽  
Synonymous Substitution ◽  
Molecular Signature ◽  
C3 Plants ◽  
Molecular Adaptation ◽  
Codon Models ◽  
Ribulose 1 ◽  
Synonymous Substitution Rates ◽  
Overlapping Sets

AbstractRubisco (Ribulose-1, 5-biphosphate carboxylase/oxygenase) is the most important enzyme on earth, catalyzing the first step of CO2 fixation in photosynthesis. Its molecular adaptation to C4 photosynthetic pathway has attracted a lot of attention. C4 plants, which comprise less than 5% of land plants, have evolved more efficient photosynthesis compared to C3 plants. Interestingly, a large number of independent transitions from C3 to C4 phenotype have occurred. Each time, the Rubisco enzyme has been subject to similar changes in selective pressure, thus providing an excellent model for convergent evolution at the molecular level. Molecular adaptation is often identified with positive selection and is typically characterized by an elevated ratio of non-synonymous over synonymous substitution rates (dN/dS). However, convergent adaptation is expected to leave a different molecular signature, taking the form of repeated transitions toward identical or similar amino acids.Here, we use a previously introduced codon-based differential selection model to detect and quantify consistent patterns of convergent adaptation in Rubisco in Amaranthaceae. We further contrast the results thus obtained with those obtained under classical codon models based on the estimation of dN/dS. We find that the two classes of models tend to select distinct, although overlapping, sets of positions. This discrepancy in the results illustrates the conceptual difference between these models, while emphasizing the need to better discriminate between qualitatively different selective regimes, by using a broader class of codon models than those currently considered in molecular evolutionary studies.

scholarly journals Detecting positive selection within genomes: the problem of biased gene conversion

2010 ◽  
Vol 365 (1552) ◽  
pp. 2571-2580 ◽  
Author(s):  
Abhirami Ratnakumar ◽  
Sylvain Mousset ◽  
Sylvain Glémin ◽  
Jonas Berglund ◽  
Nicolas Galtier ◽  
...  
Keyword(s):  
Positive Selection ◽  
Gene Conversion ◽  
Evolutionary Genetics ◽  
Synonymous Substitution ◽  
Nucleotide Substitutions ◽  
Accelerated Evolution ◽  
A Genome ◽  
Biased Gene Conversion ◽  
Synonymous Substitution Rates ◽  
Wide Scale

The identification of loci influenced by positive selection is a major goal of evolutionary genetics. A popular approach is to perform scans of alignments on a genome-wide scale in order to find regions evolving at accelerated rates on a particular branch of a phylogenetic tree. However, positive selection is not the only process that can lead to accelerated evolution. Notably, GC-biased gene conversion (gBGC) is a recombination-associated process that results in the biased fixation of G and C nucleotides. This process can potentially generate bursts of nucleotide substitutions within hotspots of meiotic recombination. Here, we analyse the results of a scan for positive selection on genes on branches across the primate phylogeny. We show that genes identified as targets of positive selection have a significant tendency to exhibit the genomic signature of gBGC. Using a maximum-likelihood framework, we estimate that more than 20 per cent of cases of significantly elevated non-synonymous to synonymous substitution rates ratio ( d N / d S ), particularly in shorter branches, could be due to gBGC. We demonstrate that in some cases, gBGC can lead to very high d N / d S (more than 2). Our results indicate that gBGC significantly affects the evolution of coding sequences in primates, often leading to patterns of evolution that can be mistaken for positive selection.

scholarly journals Genealogical Evidence for Positive Selection in the nef Gene of HIV-1

Genetics ◽  
1999 ◽  
Vol 153 (3) ◽  
pp. 1077-1089
Author(s):  
Paolo M de A. Zanotto ◽  
Esper G Kallas ◽  
Robson F de Souza ◽  
Edward C Holmes
Keyword(s):  
Positive Selection ◽  
Gene Evolution ◽  
Synonymous Substitution ◽  
Good Evidence ◽  
Likelihood Method ◽  
Variable Intensity ◽  
Subtype B ◽  
Synonymous Substitution Rates ◽  
Hiv 1 ◽  
Positively Selected Sites

Abstract The pattern and process of evolution in the nef gene of HIV-1 was analyzed within and among patients. Using a maximum likelihood method that allows for variable intensity of selection pressure among codons, strong positive selection was detected in a hemophiliac patient over 30 mo of infection. By reconstructing the process of allele substitution in this patient using parsimony, the synapomorphic amino acid changes separating each time point were found to have high probabilities of being under positive selection, with selective coefficients of at least 3.6%. Positive selection was also detected among 39 nef sequences from HIV-1 subtype B. In contrast, multiple pairwise comparisons of nonsynonymous and synonymous substitution rates provided no good evidence for positive selection and sliding window analyses failed to detect most positively selected sites. These findings demonstrate that positive selection is an important determinant of nef gene evolution and that genealogy-based methods outperform pairwise methods in the detection of adaptive evolution. Mapping the locations of positively selected sites may also be of use in identifying targets of the immune response and hence aid vaccine design.

scholarly journals Large-Scale Comparative Analysis of Codon Models Accounting for Protein and Nucleotide Selection

2017 ◽  
Author(s):  
Iakov I. Davydov ◽  
Nicolas Salamin ◽  
Marc Robinson-Rechavi
Keyword(s):  
Positive Selection ◽  
Mutation Rate ◽  
Substitution Rate ◽  
Large Scale ◽  
Synonymous Substitution ◽  
Rate Variation ◽  
New Model ◽  
Codon Models ◽  
Substitution Rate Variation ◽  
Mutation Rate Variation

AbstractThere are numerous sources of variation in the rate of synonymous substitutions inside genes, such as direct selection on the nucleotide sequence, or mutation rate variation. Yet scans for positive selection rely on codon models which incorporate an assumption of effectively neutral synonymous substitution rate, constant between sites of each gene. Here we perform a large-scale comparison of approaches which incorporate codon substitution rate variation and propose our own simple yet effective modification of existing models. We find strong effects of substitution rate variation on positive selection inference. More than 70% of the genes detected by the classical branch-site model are presumably false positives caused by the incorrect assumption of uniform synonymous substitution rate. We propose a new model which is strongly favored by the data while remaining computationally tractable. With the new model we can capture signatures of nucleotide level selection acting on translation initiation and on splicing sites within the coding region. Finally, we show that rate variation is highest in the highly recombining regions, and we propose that recombination and mutation rate variation, such as high CpG mutation rate, are the two main sources of nucleotide rate variation. While we detect fewer genes under positive selection in Drosophila than without rate variation, the genes which we detect contain a stronger signal of adaptation of dynein, which could be associated with Wolbachia infection. We provide software to perform positive selection analysis using the new model.

scholarly journals SIX6 Shows High Divergence in Fusarium oxysporum f. sp. cubense TR4

2021 ◽  
Vol 25 (06) ◽  
pp. 1331-1338
Author(s):  
Nadya Farah
Keyword(s):  
Positive Selection ◽  
Fusarium Oxysporum ◽  
Purifying Selection ◽  
Synonymous Substitution ◽  
Effector Proteins ◽  
Pr Genes ◽  
Ratio Distribution ◽  
Formae Speciales ◽  
Pathogenesis Related ◽  
Synonymous Substitution Rates

Secreted fungal effector proteins and their host targets are good examples to understand the mechanism of host-pathogen co-evolution with genes involved in the interaction undergoing positive selection. SIX genes (secreted in xylem) are obtained via horizontal transfer and can be found within the formae speciales of Fusarium oxysporum. SIX6 and SIX9 of F. oxysporum f. spp. cubense (Foc) are predicted to play a role as effectors. However, their involvement in the pathogenicity of Foc in banana plants has not been determined yet. In the susceptible banana cultivar, we found that the SIX6 and SIX9 genes of Foc TR4 were highly expressed in roots, but not in corms or leaves. The host, however, expressed the pathogenesis-related (PR) genes, PR-1 and PR-3, in corms earlier than in the roots. Phylogenetic analysis on SIX6 and SIX9 genes of F. oxysporum has revealed the separation of SIX6 and SIX9 of Foc from other formae speciales. This leads to detecting genes under positive selection using the ratio nonsynonymous to synonymous substitution rates (Ka/Ks). SIX6 of Foc showed an increase in diversity, but insufficient to drive positive selection. Conversely, SIX9 of Foc showed no divergence in the dN/dS ratio distribution, indicating purifying selection. © 2021 Friends Science Publishers

A Phenotype–Genotype Codon Model for Detecting Adaptive Evolution

2019 ◽  
Vol 69 (4) ◽  
pp. 722-738 ◽  
Author(s):  
Christopher T Jones ◽  
Noor Youssef ◽  
Edward Susko ◽  
Joseph P Bielawski
Keyword(s):  
Positive Selection ◽  
Adaptive Evolution ◽  
Evolutionary History ◽  
Life History Trait ◽  
Molecular Adaptation ◽  
Simulation Studies ◽  
Site Model ◽  
Branch Site ◽  
A Site ◽  
Post Hoc

Abstract A central objective in biology is to link adaptive evolution in a gene to structural and/or functional phenotypic novelties. Yet most analytic methods make inferences mainly from either phenotypic data or genetic data alone. A small number of models have been developed to infer correlations between the rate of molecular evolution and changes in a discrete or continuous life history trait. But such correlations are not necessarily evidence of adaptation. Here, we present a novel approach called the phenotype–genotype branch-site model (PG-BSM) designed to detect evidence of adaptive codon evolution associated with discrete-state phenotype evolution. An episode of adaptation is inferred under standard codon substitution models when there is evidence of positive selection in the form of an elevation in the nonsynonymous-to-synonymous rate ratio $\omega$ to a value $\omega > 1$. As it is becoming increasingly clear that $\omega > 1$ can occur without adaptation, the PG-BSM was formulated to infer an instance of adaptive evolution without appealing to evidence of positive selection. The null model makes use of a covarion-like component to account for general heterotachy (i.e., random changes in the evolutionary rate at a site over time). The alternative model employs samples of the phenotypic evolutionary history to test for phenomenological patterns of heterotachy consistent with specific mechanisms of molecular adaptation. These include 1) a persistent increase/decrease in $\omega$ at a site following a change in phenotype (the pattern) consistent with an increase/decrease in the functional importance of the site (the mechanism); and 2) a transient increase in $\omega$ at a site along a branch over which the phenotype changed (the pattern) consistent with a change in the site’s optimal amino acid (the mechanism). Rejection of the null is followed by post hoc analyses to identify sites with strongest evidence for adaptation in association with changes in the phenotype as well as the most likely evolutionary history of the phenotype. Simulation studies based on a novel method for generating mechanistically realistic signatures of molecular adaptation show that the PG-BSM has good statistical properties. Analyses of real alignments show that site patterns identified post hoc are consistent with the specific mechanisms of adaptation included in the alternate model. Further simulation studies show that the covarion-like component of the PG-BSM plays a crucial role in mitigating recently discovered statistical pathologies associated with confounding by accounting for heterotachy-by-any-cause. [Adaptive evolution; branch-site model; confounding; mutation-selection; phenotype–genotype.]

Pseudogenized Amelogenin Reveals Early Tooth Loss in True Toads (Anura: Bufonidae)

2021 ◽  
Author(s):  
John Shaheen ◽  
Austin B Mudd ◽  
Thomas G H Diekwisch ◽  
John Abramyan
Keyword(s):  
Tooth Loss ◽  
Tooth Enamel ◽  
Synonymous Substitution ◽  
Bufo Bufo ◽  
Molecular Dating ◽  
Bufo Gargarizans ◽  
The Family ◽  
Synonymous Substitution Rates ◽  
Mandibular Teeth ◽  
Early Tooth Loss

Abstract Extant anurans (frogs and toads) exhibit reduced dentition, ranging from a lack of mandibular teeth to complete edentulation, as observed in the true toads of the family Bufonidae. The evolutionary timeline of these reductions remains vague due to a poor fossil record. Previous studies have demonstrated an association between the lack of teeth in edentulous vertebrates and the pseudogenization of the major tooth enamel gene amelogenin (AMEL) through accumulation of deleterious mutations and the disruption of its coding sequence. In the present study we have harnessed the pseudogenization of AMEL as a molecular dating tool to correlate loss of dentition with genomic mutation patterns during the rise of the family Bufonidae. Specifically, we have utilized AMEL pseudogenes in three members of the family as a tool to estimate the putative date of edentulation in true toads. Comparison of AMEL sequences from Rhinella marina, Bufo gargarizans and Bufo bufo, with nine extant, dentulous frogs, revealed mutations confirming AMEL inactivation in Bufonidae. AMEL pseudogenes in modern bufonids also exhibited remarkably high 86–93% sequence identity among each other, with only a slight increase in substitution rate and relaxation of selective pressure, in comparison to functional copies in other anurans. Moreover, using selection intensity estimates and synonymous substitution rates, analysis of functional and pseudogenized AMEL resulted in an estimated inactivation window of 46-60 MYA in the lineage leading to modern true toads, a timeline that coincides with the rise of the family Bufonidae.

scholarly journals Comparing Patterns of Nucleotide Substitution Rates Among Chloroplast Loci Using the Relative Ratio Test

Genetics ◽  
1997 ◽  
Vol 146 (1) ◽  
pp. 393-399 ◽  
Author(s):  
Spencer V Muse ◽  
Brandon S Gaut
Keyword(s):  
Nucleotide Substitution ◽  
Nonsynonymous Substitution ◽  
Synonymous Substitution ◽  
Joint Analysis ◽  
Ratio Test ◽  
Substitution Rates ◽  
Chloroplast Genomes ◽  
Synonymous Substitution Rates ◽  
Nucleotide Substitution Rates ◽  
Evolutionary Lineages

Even when several genetic loci are used in molecular evolutionary studies, each locus is typically analyzed independently of the others. This type of approach makes it difficult to study mechanisms and processes that affect multiple genes. In this work we develop a statistical approach for the joint analysis of two or more loci. The tests we propose examine whether or not nucleotide substitution rates across evolutionary lineages have the same relative proportions at two loci. Theses procedures are applied to 33 genes from the chloroplast genomes of rice, tobacco, pine, and liverwort. With the exception of five clearly distinct loci, we find that synonymous substitution rates tend to change proportionally across genes. We interpret these results to be consistent with a “lineage effect” acting on the entire chloroplast genome. In contrast, nonsynonymous rates do not change proportionally across genes, suggesting that locus-specific evolutionary effects dominate patterns of nonsynonymous substitution.

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