Purifying selection modulates the estimates of population differentiation and confounds genome-wide comparisons across single-nucleotide polymorphisms.

Abstract:

:An improved understanding of the biological and numerical properties of measures of population differentiation across loci is becoming increasingly more important because of their growing use in analyzing genome-wide polymorphism data for detecting population structures, inferring the rates of migration, and identifying local adaptations. In a genome-wide analysis, we discovered that the estimates of population differentiation (e.g., F(ST), θ, and Jost's D) calculated for human single-nucleotide polymorphisms (SNPs) are strongly and positively correlated to the position-specific evolutionary rates measured from multispecies alignments. That is, genomic positions (loci) experiencing higher purifying selection (lower evolutionary rates) produce lower values for the degree of population differentiation than those evolving with faster rates. We show that this pattern is completely mediated by the negative effects of purifying selection on the minor allele frequency (MAF) at individual loci. Our results suggest that inferences and methods relying on the comparison of population differentiation estimates (F(ST), θ, and Jost's D) based on SNPs across genomic positions should be restricted to loci with similar MAFs and/or the rates of evolution in genome scale surveys.

journal_name

Mol Biol Evol

authors

Maruki T,Kumar S,Kim Y

doi

10.1093/molbev/mss187

subject

Has Abstract

pub_date

2012-12-01 00:00:00

pages

3617-23

issue

12

eissn

0737-4038

issn

1537-1719

pii

mss187

journal_volume

29

pub_type

杂志文章
  • The shoot stem cell niche in angiosperms: expression patterns of WUS orthologues in rice and maize imply major modifications in the course of mono- and dicot evolution.

    abstract::In Arabidopsis, stem cell homeostasis in the shoot apical meristem (SAM) is controlled by a feedback loop between WUS and CLV functions. We have identified WUS orthologues in maize and rice by a detailed phylogenetic analysis of the WOX gene family and subsequent cloning. A single WUS orthologue is present in the rice...

    journal_title:Molecular biology and evolution

    pub_type: 杂志文章

    doi:10.1093/molbev/msl125

    authors: Nardmann J,Werr W

    更新日期:2006-12-01 00:00:00

  • Novel rearrangements of arthropod mitochondrial DNA detected with long-PCR: applications to arthropod phylogeny and evolution.

    abstract::Rearrangements of mitochondrial DNA gene order have been suggested as a tool for defining the pattern of evolutionary divergence in arthropod taxa. We have employed a combination of highly conserved insect-based polymerase chain reaction (PCR) primers with long-PCR to survey 14 noninsect arthropods for mitochondrial g...

    journal_title:Molecular biology and evolution

    pub_type: 杂志文章

    doi:10.1093/oxfordjournals.molbev.a004141

    authors: Roehrdanz RL,Degrugillier ME,Black WC 4th

    更新日期:2002-06-01 00:00:00

  • Bayesian Phylogeography and Pathogenic Characterization of Smallpox Based on HA, ATI, and CrmB Genes.

    abstract::Variola virus is at risk of re-emergence either through accidental release, bioterrorism, or synthetic biology. The use of phylogenetics and phylogeography to support epidemic field response is expected to grow as sequencing technology becomes miniaturized, cheap, and ubiquitous. In this study, we aimed to explore the...

    journal_title:Molecular biology and evolution

    pub_type: 杂志文章

    doi:10.1093/molbev/msy153

    authors: Adam DC,Scotch M,MacIntyre CR

    更新日期:2018-11-01 00:00:00

  • Deciphering the relationship between mating system and the molecular evolution of the pheromone and receptor genes in Neurospora.

    abstract::Here, we present a study of the molecular evolution of the pheromone receptor genes (pre-1 and pre-2) in Neurospora taxa with different mating systems. We focus on comparisons between heterothallic and homothallic taxa, reproducing sexually by outcrossing and by intrahaploid selfing, respectively. Our general aim was ...

    journal_title:Molecular biology and evolution

    pub_type: 杂志文章

    doi:10.1093/molbev/mss193

    authors: Nygren K,Strandberg R,Gioti A,Karlsson M,Johannesson H

    更新日期:2012-12-01 00:00:00

  • Proteomic Analysis of Histones H2A/H2B and Variant Hv1 in Tetrahymena thermophila Reveals an Ancient Network of Chaperones.

    abstract::Epigenetic information, which can be passed on independently of the DNA sequence, is stored in part in the form of histone posttranslational modifications and specific histone variants. Although complexes necessary for deposition have been identified for canonical and variant histones, information regarding the chroma...

    journal_title:Molecular biology and evolution

    pub_type: 杂志文章

    doi:10.1093/molbev/msz039

    authors: Ashraf K,Nabeel-Shah S,Garg J,Saettone A,Derynck J,Gingras AC,Lambert JP,Pearlman RE,Fillingham J

    更新日期:2019-05-01 00:00:00

  • Effective Population Size Predicts Local Rates but Not Local Mitigation of Read-through Errors.

    abstract::In correctly predicting that selection efficiency is positively correlated with the effective population size (Ne), the nearly neutral theory provides a coherent understanding of between-species variation in numerous genomic parameters, including heritable error (germline mutation) rates. Does the same theory also exp...

    journal_title:Molecular biology and evolution

    pub_type: 杂志文章

    doi:10.1093/molbev/msaa210

    authors: Ho AT,Hurst LD

    更新日期:2021-01-04 00:00:00

  • Evolution of closely linked gene pairs in vertebrate genomes.

    abstract::The orientation of closely linked genes in mammalian genomes is not random: there are more head-to-head (h2h) gene pairs than expected. To understand the origin of this enrichment in h2h gene pairs, we have analyzed the phylogenetic distribution of gene pairs separated by less than 600 bp of intergenic DNA (gene duos)...

    journal_title:Molecular biology and evolution

    pub_type: 杂志文章

    doi:10.1093/molbev/msn136

    authors: Franck E,Hulsen T,Huynen MA,de Jong WW,Lubsen NH,Madsen O

    更新日期:2008-09-01 00:00:00

  • Empirical assessment of RAD sequencing for interspecific phylogeny.

    abstract::Next-generation sequencing opened up new possibilities in phylogenetics; however, choosing an appropriate method of sample preparation remains challenging. Here, we demonstrate that restriction-site-associated DNA sequencing (RAD-seq) generates useful data for phylogenomics. Analysis of our RAD library using current b...

    journal_title:Molecular biology and evolution

    pub_type: 杂志文章

    doi:10.1093/molbev/msu063

    authors: Cruaud A,Gautier M,Galan M,Foucaud J,Sauné L,Genson G,Dubois E,Nidelet S,Deuve T,Rasplus JY

    更新日期:2014-05-01 00:00:00

  • Human L1 Transposition Dynamics Unraveled with Functional Data Analysis.

    abstract::Long INterspersed Elements-1 (L1s) constitute >17% of the human genome and still actively transpose in it. Characterizing L1 transposition across the genome is critical for understanding genome evolution and somatic mutations. However, to date, L1 insertion and fixation patterns have not been studied comprehensively. ...

    journal_title:Molecular biology and evolution

    pub_type: 杂志文章

    doi:10.1093/molbev/msaa194

    authors: Chen D,Cremona MA,Qi Z,Mitra RD,Chiaromonte F,Makova KD

    更新日期:2020-12-16 00:00:00

  • Origin of a giant sex chromosome.

    abstract::Chromosome size and morphology vary within and among species, but little is known about the proximate or ultimate causes of these differences. Cichlid fish species in the tribe Oreochromini share an unusual giant chromosome that is ∼3 times longer than the other chromosomes. This giant chromosome functions as a sex ch...

    journal_title:Molecular biology and evolution

    pub_type: 杂志文章

    doi:10.1093/molbev/msaa319

    authors: Conte MA,Clark FE,Roberts RB,Xu L,Tao W,Zhou Q,Wang D,Kocher TD

    更新日期:2020-12-10 00:00:00

  • Phylogenetic and biochemical evidence supports the recruitment of an ADP-glucose translocator for the export of photosynthate during plastid endosymbiosis.

    abstract::The acquisition of photosynthesis by eukaryotic cells through enslavement of a cyanobacterium represents one of the most remarkable turning points in the history of life on Earth. In addition to endosymbiotic gene transfer, the acquisition of a protein import apparatus and the coordination of gene expression between h...

    journal_title:Molecular biology and evolution

    pub_type: 杂志文章

    doi:10.1093/molbev/msq158

    authors: Colleoni C,Linka M,Deschamps P,Handford MG,Dupree P,Weber AP,Ball SG

    更新日期:2010-12-01 00:00:00

  • Multilocus analysis of nucleotide variation of Oryza sativa and its wild relatives: severe bottleneck during domestication of rice.

    abstract::Varying degrees of reduction of genetic diversity in crops relative to their wild progenitors occurred during the process of domestication. Such information, however, has not been available for the Asian cultivated rice (Oryza sativa) despite its importance as a staple food and a model organism. To reveal levels and p...

    journal_title:Molecular biology and evolution

    pub_type: 杂志文章

    doi:10.1093/molbev/msm005

    authors: Zhu Q,Zheng X,Luo J,Gaut BS,Ge S

    更新日期:2007-03-01 00:00:00

  • Automated structural comparisons clarify the phylogeny of the right-hand-shaped polymerases.

    abstract::Polymerases are essential for life, being responsible for replication, transcription, and the repair of nucleic acid molecules. Those that share a right-hand-shaped fold and catalytic site structurally similar to the DNA polymerase I of Escherichia coli may catalyze RNA- or DNA-dependent RNA polymerization, reverse tr...

    journal_title:Molecular biology and evolution

    pub_type: 杂志文章

    doi:10.1093/molbev/msu219

    authors: Mönttinen HA,Ravantti JJ,Stuart DI,Poranen MM

    更新日期:2014-10-01 00:00:00

  • Comparative transcriptome analyses reveal core parasitism genes and suggest gene duplication and repurposing as sources of structural novelty.

    abstract::The origin of novel traits is recognized as an important process underlying many major evolutionary radiations. We studied the genetic basis for the evolution of haustoria, the novel feeding organs of parasitic flowering plants, using comparative transcriptome sequencing in three species of Orobanchaceae. Around 180 g...

    journal_title:Molecular biology and evolution

    pub_type: 杂志文章

    doi:10.1093/molbev/msu343

    authors: Yang Z,Wafula EK,Honaas LA,Zhang H,Das M,Fernandez-Aparicio M,Huang K,Bandaranayake PC,Wu B,Der JP,Clarke CR,Ralph PE,Landherr L,Altman NS,Timko MP,Yoder JI,Westwood JH,dePamphilis CW

    更新日期:2015-03-01 00:00:00

  • Functional regulatory divergence of the innate immune system in interspecific Drosophila hybrids.

    abstract::In order to investigate divergence of immune regulation among Drosophila species, we have engaged in a study of innate immune function in F1 hybrids of Drosophila melanogaster and D. simulans. If pathways have diverged between the species such that incompatibilities have arisen between interacting components of the im...

    journal_title:Molecular biology and evolution

    pub_type: 杂志文章

    doi:10.1093/molbev/msq146

    authors: Hill-Burns EM,Clark AG

    更新日期:2010-11-01 00:00:00

  • Phylogenomic analysis of the uracil-DNA glycosylase superfamily.

    abstract::The spontaneous deamination of cytosine produces uracil mispaired with guanine in DNA, which will produce a mutation, unless repaired. In all domains of life, uracil-DNA glycosylases (UDGs) are responsible for the elimination of uracil from DNA. Thus, UDGs contribute to the integrity of the genetic information and the...

    journal_title:Molecular biology and evolution

    pub_type: 杂志文章

    doi:10.1093/molbev/msq318

    authors: Lucas-Lledó JI,Maddamsetti R,Lynch M

    更新日期:2011-03-01 00:00:00

  • Investigation of loss and gain of introns in the compact genomes of pufferfishes (Fugu and Tetraodon).

    abstract::We have investigated intron evolution in the compact genomes of 2 closely related species of pufferfishes, Fugu rubripes and Tetraodon nigroviridis, that diverged about 32 million years ago (MYA). Analysis of 148,028 aligned intron positions in 13,547 gene pairs using human as an outgroup identified 57 and 24 intron l...

    journal_title:Molecular biology and evolution

    pub_type: 杂志文章

    doi:10.1093/molbev/msm278

    authors: Loh YH,Brenner S,Venkatesh B

    更新日期:2008-03-01 00:00:00

  • Distinct roles for SOS1 in the convergent evolution of salt tolerance in Eutrema salsugineum and Schrenkiella parvula.

    abstract::Eutrema salsugineum and Schrenkiella parvula are salt-tolerant relatives of the salt-sensitive species Arabidopsis thaliana. An important component of salt tolerance is the regulation of Na(+) ion homeostasis, which occurs in part through proteins encoded by the Cation/Proton Antiporter-1 (CPA1) gene family. We used a...

    journal_title:Molecular biology and evolution

    pub_type: 杂志文章

    doi:10.1093/molbev/msu152

    authors: Jarvis DE,Ryu CH,Beilstein MA,Schumaker KS

    更新日期:2014-08-01 00:00:00

  • Global patterns of human DNA sequence variation in a 10-kb region on chromosome 1.

    abstract::Human DNA variation is currently a subject of intense research because of its importance for studying human origins, evolution, and demographic history and for association studies of complex diseases. A approximately 10-kb region on chromosome 1, which contains only four small exons (each <155 bp), was sequenced for 6...

    journal_title:Molecular biology and evolution

    pub_type: 杂志文章

    doi:10.1093/oxfordjournals.molbev.a003795

    authors: Yu N,Zhao Z,Fu YX,Sambuughin N,Ramsay M,Jenkins T,Leskinen E,Patthy L,Jorde LB,Kuromori T,Li WH

    更新日期:2001-02-01 00:00:00

  • Appropriate likelihood ratio tests and marginal distributions for evolutionary tree models with constraints on parameters.

    abstract::We show how to make appropriate likelihood ratio tests for evolutionary tree models when parameters such as edge (internodes or branches) lengths have nonnegativity constraints. In such cases, under the null model of an edge length being zero, the marginal distribution of this parameter is proven to be a "half-normal"...

    journal_title:Molecular biology and evolution

    pub_type: 杂志文章

    doi:10.1093/oxfordjournals.molbev.a026358

    authors: Ota R,Waddell PJ,Hasegawa M,Shimodaira H,Kishino H

    更新日期:2000-05-01 00:00:00

  • Archaic Adaptive Introgression in TBX15/WARS2.

    abstract::A recent study conducted the first genome-wide scan for selection in Inuit from Greenland using single nucleotide polymorphism 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 rela...

    journal_title:Molecular biology and evolution

    pub_type: 杂志文章

    doi:10.1093/molbev/msw283

    authors: Racimo F,Gokhman D,Fumagalli M,Ko A,Hansen T,Moltke I,Albrechtsen A,Carmel L,Huerta-Sánchez E,Nielsen R

    更新日期:2017-03-01 00:00:00

  • Quantitative Mass Spectrometry Reveals Partial Translational Regulation for Dosage Compensation in Chicken.

    abstract::There is increasing evidence that dosage compensation is not a ubiquitous feature following sex chromosome evolution, especially not in organisms where females are the heterogametic sex, like in birds. Even when it occurs, compensation can be incomplete and limited to dosage-sensitive genes. However, previous work has...

    journal_title:Molecular biology and evolution

    pub_type: 杂志文章

    doi:10.1093/molbev/msv147

    authors: Uebbing S,Konzer A,Xu L,Backström N,Brunström B,Bergquist J,Ellegren H

    更新日期:2015-10-01 00:00:00

  • Taxonomic congruence versus total evidence, and amniote phylogeny inferred from fossils, molecules, and morphology.

    abstract::Taxonomic congruence and total evidence are competing paradigms in phylogenetic inference. Taxonomic congruence focuses on deriving a consensus from the results obtained from separately analyzed data sets, whereas total evidence uses character congruence in the search for the best-fitting hypothesis for all of the ava...

    journal_title:Molecular biology and evolution

    pub_type: 杂志文章

    doi:10.1093/oxfordjournals.molbev.a040071

    authors: Eernisse DJ,Kluge AG

    更新日期:1993-11-01 00:00:00

  • Observations of amino acid gain and loss during protein evolution are explained by statistical bias.

    abstract::The authors of a recent manuscript in "Nature" claim to have discovered "universal trends" of amino acid gain and loss in protein evolution. Here, we show that this universal trend can be simply explained by a bias that is unavoidable with the 3-taxon trees used in the original analysis. We demonstrate that a rigorous...

    journal_title:Molecular biology and evolution

    pub_type: 杂志文章

    doi:10.1093/molbev/msl010

    authors: Goldstein RA,Pollock DD

    更新日期:2006-07-01 00:00:00

  • An unusual form of purifying selection in a sperm protein.

    abstract::Protamines are small, highly basic DNA-binding proteins found in the sperm of animals. Interestingly, the proportion of arginine residues in one type of protamine, protamine P1, is about 50% in mammals. Upon closer examination, it was found that both the total number of amino acids and the positions of arginine residu...

    journal_title:Molecular biology and evolution

    pub_type: 杂志文章

    doi:10.1093/oxfordjournals.molbev.a026307

    authors: Rooney AP,Zhang J,Nei M

    更新日期:2000-02-01 00:00:00

  • Evolution of glucagon genes.

    abstract::Statistical analyses of DNA sequences of the preproglucagon genes from bovine, human, hamster, and anglerfish suggest that a gene duplication creating two anglerfish genes (AF I and II) occurred about 160 Myr ago, long after the separation of fish and mammals. The analyses further suggest that the internal duplication...

    journal_title:Molecular biology and evolution

    pub_type: 杂志文章

    doi:10.1093/oxfordjournals.molbev.a040322

    authors: Lopez LC,Li WH,Frazier ML,Luo CC,Saunders GF

    更新日期:1984-07-01 00:00:00

  • Recent Out-of-Africa Migration of Human Herpes Simplex Viruses.

    abstract::Herpes simplex virus types 1 and 2 (HSV-1 and HSV-2) are ubiquitous human pathogens. Both viruses evolved from simplex viruses infecting African primates and they are thus thought to have left Africa during early human migrations. We analyzed the population structure of HSV-1 and HSV-2 circulating strains. Results ind...

    journal_title:Molecular biology and evolution

    pub_type: 杂志文章

    doi:10.1093/molbev/msaa001

    authors: Forni D,Pontremoli C,Clerici M,Pozzoli U,Cagliani R,Sironi M

    更新日期:2020-05-01 00:00:00

  • The effects of nucleotide substitution model assumptions on estimates of nonparametric bootstrap support.

    abstract::The use of parameter-rich substitution models in molecular phylogenetics has been criticized on the basis that these models can cause a reduction both in accuracy and in the ability to discriminate among competing topologies. We have explored the relationship between nucleotide substitution model complexity and nonpar...

    journal_title:Molecular biology and evolution

    pub_type: 杂志文章

    doi:10.1093/oxfordjournals.molbev.a004094

    authors: Buckley TR,Cunningham CW

    更新日期:2002-04-01 00:00:00

  • Extensive gene conversion drives the concerted evolution of paralogous copies of the SRY gene in European rabbits.

    abstract::The human Y chromosome consists of ampliconic genes, which are located in palindromes and undergo frequent gene conversion, and single-copy genes including the primary sex-determining locus, SRY. Here, we demonstrate that SRY is duplicated in a large palindrome in the European rabbit (Oryctolagus cuniculus). Furthermo...

    journal_title:Molecular biology and evolution

    pub_type: 杂志文章

    doi:10.1093/molbev/msq139

    authors: Geraldes A,Rambo T,Wing RA,Ferrand N,Nachman MW

    更新日期:2010-11-01 00:00:00

  • Frequent Retroviral Gene Co-option during the Evolution of Vertebrates.

    abstract::Endogenous retroviruses are ubiquitous in the vertebrate genomes. On occasion, hosts recruited retroviral genes to mediate their own biological functions, a process formally known as co-option or exaptation. Much remains unknown about the extent of retroviral gene co-option in vertebrates, although more than ten retro...

    journal_title:Molecular biology and evolution

    pub_type: 杂志文章

    doi:10.1093/molbev/msaa180

    authors: Wang J,Han GZ

    更新日期:2020-11-01 00:00:00