Patterns of positive selection in six Mammalian genomes.

Abstract:

:Genome-wide scans for positively selected genes (PSGs) in mammals have provided insight into the dynamics of genome evolution, the genetic basis of differences between species, and the functions of individual genes. However, previous scans have been limited in power and accuracy owing to small numbers of available genomes. Here we present the most comprehensive examination of mammalian PSGs to date, using the six high-coverage genome assemblies now available for eutherian mammals. The increased phylogenetic depth of this dataset results in substantially improved statistical power, and permits several new lineage- and clade-specific tests to be applied. Of approximately 16,500 human genes with high-confidence orthologs in at least two other species, 400 genes showed significant evidence of positive selection (FDR<0.05), according to a standard likelihood ratio test. An additional 144 genes showed evidence of positive selection on particular lineages or clades. As in previous studies, the identified PSGs were enriched for roles in defense/immunity, chemosensory perception, and reproduction, but enrichments were also evident for more specific functions, such as complement-mediated immunity and taste perception. Several pathways were strongly enriched for PSGs, suggesting possible co-evolution of interacting genes. A novel Bayesian analysis of the possible "selection histories" of each gene indicated that most PSGs have switched multiple times between positive selection and nonselection, suggesting that positive selection is often episodic. A detailed analysis of Affymetrix exon array data indicated that PSGs are expressed at significantly lower levels, and in a more tissue-specific manner, than non-PSGs. Genes that are specifically expressed in the spleen, testes, liver, and breast are significantly enriched for PSGs, but no evidence was found for an enrichment for PSGs among brain-specific genes. This study provides additional evidence for widespread positive selection in mammalian evolution and new genome-wide insights into the functional implications of positive selection.

journal_name

PLoS Genet

journal_title

PLoS genetics

authors

Kosiol C,Vinar T,da Fonseca RR,Hubisz MJ,Bustamante CD,Nielsen R,Siepel A

doi

10.1371/journal.pgen.1000144

subject

Has Abstract

pub_date

2008-08-01 00:00:00

pages

e1000144

issue

8

eissn

1553-7390

issn

1553-7404

journal_volume

4

pub_type

杂志文章
  • Multi-nucleotide de novo Mutations in Humans.

    abstract::Mutation of the DNA molecule is one of the most fundamental processes in biology. In this study, we use 283 parent-offspring trios to estimate the rate of mutation for both single nucleotide variants (SNVs) and short length variants (indels) in humans and examine the mutation process. We found 17812 SNVs, correspondin...

    journal_title:PLoS genetics

    pub_type: 杂志文章

    doi:10.1371/journal.pgen.1006315

    authors: Besenbacher S,Sulem P,Helgason A,Helgason H,Kristjansson H,Jonasdottir A,Jonasdottir A,Magnusson OT,Thorsteinsdottir U,Masson G,Kong A,Gudbjartsson DF,Stefansson K

    更新日期:2016-11-15 00:00:00

  • A single enhancer regulating the differential expression of duplicated red-sensitive opsin genes in zebrafish.

    abstract::A fundamental step in the evolution of the visual system is the gene duplication of visual opsins and differentiation between the duplicates in absorption spectra and expression pattern in the retina. However, our understanding of the mechanism of expression differentiation is far behind that of spectral tuning of ops...

    journal_title:PLoS genetics

    pub_type: 杂志文章

    doi:10.1371/journal.pgen.1001245

    authors: Tsujimura T,Hosoya T,Kawamura S

    更新日期:2010-12-16 00:00:00

  • Lipid-induced epigenomic changes in human macrophages identify a coronary artery disease-associated variant that regulates PPAP2B Expression through Altered C/EBP-beta binding.

    abstract::Genome-wide association studies (GWAS) have identified over 40 loci that affect risk of coronary artery disease (CAD) and the causal mechanisms at the majority of loci are unknown. Recent studies have suggested that many causal GWAS variants influence disease through altered transcriptional regulation in disease-relev...

    journal_title:PLoS genetics

    pub_type: 杂志文章

    doi:10.1371/journal.pgen.1005061

    authors: Reschen ME,Gaulton KJ,Lin D,Soilleux EJ,Morris AJ,Smyth SS,O'Callaghan CA

    更新日期:2015-04-02 00:00:00

  • The SMC-5/6 Complex and the HIM-6 (BLM) Helicase Synergistically Promote Meiotic Recombination Intermediate Processing and Chromosome Maturation during Caenorhabditis elegans Meiosis.

    abstract::Meiotic recombination is essential for the repair of programmed double strand breaks (DSBs) to generate crossovers (COs) during meiosis. The efficient processing of meiotic recombination intermediates not only needs various resolvases but also requires proper meiotic chromosome structure. The Smc5/6 complex belongs to...

    journal_title:PLoS genetics

    pub_type: 杂志文章

    doi:10.1371/journal.pgen.1005872

    authors: Hong Y,Sonneville R,Agostinho A,Meier B,Wang B,Blow JJ,Gartner A

    更新日期:2016-03-24 00:00:00

  • Deep sequencing of plant and animal DNA contained within traditional Chinese medicines reveals legality issues and health safety concerns.

    abstract::Traditional Chinese medicine (TCM) has been practiced for thousands of years, but only within the last few decades has its use become more widespread outside of Asia. Concerns continue to be raised about the efficacy, legality, and safety of many popular complementary alternative medicines, including TCMs. Ingredients...

    journal_title:PLoS genetics

    pub_type: 杂志文章

    doi:10.1371/journal.pgen.1002657

    authors: Coghlan ML,Haile J,Houston J,Murray DC,White NE,Moolhuijzen P,Bellgard MI,Bunce M

    更新日期:2012-01-01 00:00:00

  • A groupwise association test for rare mutations using a weighted sum statistic.

    abstract::Resequencing is an emerging tool for identification of rare disease-associated mutations. Rare mutations are difficult to tag with SNP genotyping, as genotyping studies are designed to detect common variants. However, studies have shown that genetic heterogeneity is a probable scenario for common diseases, in which mu...

    journal_title:PLoS genetics

    pub_type: 杂志文章

    doi:10.1371/journal.pgen.1000384

    authors: Madsen BE,Browning SR

    更新日期:2009-02-01 00:00:00

  • Exocyst-Dependent Membrane Addition Is Required for Anaphase Cell Elongation and Cytokinesis in Drosophila.

    abstract::Mitotic and cytokinetic processes harness cell machinery to drive chromosomal segregation and the physical separation of dividing cells. Here, we investigate the functional requirements for exocyst complex function during cell division in vivo, and demonstrate a common mechanism that directs anaphase cell elongation a...

    journal_title:PLoS genetics

    pub_type: 杂志文章

    doi:10.1371/journal.pgen.1005632

    authors: Giansanti MG,Vanderleest TE,Jewett CE,Sechi S,Frappaolo A,Fabian L,Robinett CC,Brill JA,Loerke D,Fuller MT,Blankenship JT

    更新日期:2015-11-03 00:00:00

  • Global transcriptome and deletome profiles of yeast exposed to transition metals.

    abstract::A variety of pathologies are associated with exposure to supraphysiological concentrations of essential metals and to non-essential metals and metalloids. The molecular mechanisms linking metal exposure to human pathologies have not been clearly defined. To address these gaps in our understanding of the molecular biol...

    journal_title:PLoS genetics

    pub_type: 杂志文章

    doi:10.1371/journal.pgen.1000053

    authors: Jin YH,Dunlap PE,McBride SJ,Al-Refai H,Bushel PR,Freedman JH

    更新日期:2008-04-25 00:00:00

  • Differential paralog divergence modulates genome evolution across yeast species.

    abstract::Evolutionary outcomes depend not only on the selective forces acting upon a species, but also on the genetic background. However, large timescales and uncertain historical selection pressures can make it difficult to discern such important background differences between species. Experimental evolution is one tool to c...

    journal_title:PLoS genetics

    pub_type: 杂志文章

    doi:10.1371/journal.pgen.1006585

    authors: Sanchez MR,Miller AW,Liachko I,Sunshine AB,Lynch B,Huang M,Alcantara E,DeSevo CG,Pai DA,Tucker CM,Hoang ML,Dunham MJ

    更新日期:2017-02-14 00:00:00

  • Genome wide association studies using a new nonparametric model reveal the genetic architecture of 17 agronomic traits in an enlarged maize association panel.

    abstract::Association mapping is a powerful approach for dissecting the genetic architecture of complex quantitative traits using high-density SNP markers in maize. Here, we expanded our association panel size from 368 to 513 inbred lines with 0.5 million high quality SNPs using a two-step data-imputation method which combines ...

    journal_title:PLoS genetics

    pub_type: 杂志文章

    doi:10.1371/journal.pgen.1004573

    authors: Yang N,Lu Y,Yang X,Huang J,Zhou Y,Ali F,Wen W,Liu J,Li J,Yan J

    更新日期:2014-09-11 00:00:00

  • Prp4 Kinase Grants the License to Splice: Control of Weak Splice Sites during Spliceosome Activation.

    abstract::The genome of the fission yeast Schizosaccharomyces pombe encodes 17 kinases that are essential for cell growth. These include the cell-cycle regulator Cdc2, as well as several kinases that coordinate cell growth, polarity, and morphogenesis during the cell cycle. In this study, we further characterized another of the...

    journal_title:PLoS genetics

    pub_type: 杂志文章

    doi:10.1371/journal.pgen.1005768

    authors: Eckert D,Andrée N,Razanau A,Zock-Emmenthal S,Lützelberger M,Plath S,Schmidt H,Guerra-Moreno A,Cozzuto L,Ayté J,Käufer NF

    更新日期:2016-01-05 00:00:00

  • Extensive Regulation of Diurnal Transcription and Metabolism by Glucocorticoids.

    abstract::Altered daily patterns of hormone action are suspected to contribute to metabolic disease. It is poorly understood how the adrenal glucocorticoid hormones contribute to the coordination of daily global patterns of transcription and metabolism. Here, we examined diurnal metabolite and transcriptome patterns in a zebraf...

    journal_title:PLoS genetics

    pub_type: 杂志文章

    doi:10.1371/journal.pgen.1006512

    authors: Weger BD,Weger M,Görling B,Schink A,Gobet C,Keime C,Poschet G,Jost B,Krone N,Hell R,Gachon F,Luy B,Dickmeis T

    更新日期:2016-12-12 00:00:00

  • Translation in giant viruses: a unique mixture of bacterial and eukaryotic termination schemes.

    abstract::Mimivirus and Megavirus are the best characterized representatives of an expanding new family of giant viruses infecting Acanthamoeba. Their most distinctive features, megabase-sized genomes carried in particles of size comparable to that of small bacteria, fill the gap between the viral and cellular worlds. These gia...

    journal_title:PLoS genetics

    pub_type: 杂志文章

    doi:10.1371/journal.pgen.1003122

    authors: Jeudy S,Abergel C,Claverie JM,Legendre M

    更新日期:2012-01-01 00:00:00

  • The euchromatic and heterochromatic landscapes are shaped by antagonizing effects of transcription on H2A.Z deposition.

    abstract::A role for variant histone H2A.Z in gene expression is now well established but little is known about the mechanisms by which it operates. Using a combination of ChIP-chip, knockdown and expression profiling experiments, we show that upon gene induction, human H2A.Z associates with gene promoters and helps in recruiti...

    journal_title:PLoS genetics

    pub_type: 杂志文章

    doi:10.1371/journal.pgen.1000687

    authors: Hardy S,Jacques PE,Gévry N,Forest A,Fortin ME,Laflamme L,Gaudreau L,Robert F

    更新日期:2009-10-01 00:00:00

  • Tissue- and Time-Specific Expression of Otherwise Identical tRNA Genes.

    abstract::Codon usage bias affects protein translation because tRNAs that recognize synonymous codons differ in their abundance. Although the current dogma states that tRNA expression is exclusively regulated by intrinsic control elements (A- and B-box sequences), we revealed, using a reporter that monitors the levels of indivi...

    journal_title:PLoS genetics

    pub_type: 杂志文章

    doi:10.1371/journal.pgen.1006264

    authors: Sagi D,Rak R,Gingold H,Adir I,Maayan G,Dahan O,Broday L,Pilpel Y,Rechavi O

    更新日期:2016-08-25 00:00:00

  • Transcriptional dynamics elicited by a short pulse of notch activation involves feed-forward regulation by E(spl)/Hes genes.

    abstract::Dynamic activity of signaling pathways, such as Notch, is vital to achieve correct development and homeostasis. However, most studies assess output many hours or days after initiation of signaling, once the outcome has been consolidated. Here we analyze genome-wide changes in transcript levels, binding of the Notch pa...

    journal_title:PLoS genetics

    pub_type: 杂志文章

    doi:10.1371/journal.pgen.1003162

    authors: Housden BE,Fu AQ,Krejci A,Bernard F,Fischer B,Tavaré S,Russell S,Bray SJ

    更新日期:2013-01-01 00:00:00

  • The amidation step of diphthamide biosynthesis in yeast requires DPH6, a gene identified through mining the DPH1-DPH5 interaction network.

    abstract::Diphthamide is a highly modified histidine residue in eukaryal translation elongation factor 2 (eEF2) that is the target for irreversible ADP ribosylation by diphtheria toxin (DT). In Saccharomyces cerevisiae, the initial steps of diphthamide biosynthesis are well characterized and require the DPH1-DPH5 genes. However...

    journal_title:PLoS genetics

    pub_type: 杂志文章

    doi:10.1371/journal.pgen.1003334

    authors: Uthman S,Bär C,Scheidt V,Liu S,ten Have S,Giorgini F,Stark MJ,Schaffrath R

    更新日期:2013-01-01 00:00:00

  • Adaptive evolution among cytoplasmic piRNA proteins leads to decreased genomic auto-immunity.

    abstract::In metazoan germlines, the piRNA pathway acts as a genomic immune system, employing small RNA-mediated silencing to defend host DNA from the harmful effects of transposable elements (TEs). Expression of genomic TEs is proposed to initiate self regulation by increasing the production of repressive piRNAs, thereby "adap...

    journal_title:PLoS genetics

    pub_type: 杂志文章

    doi:10.1371/journal.pgen.1008861

    authors: Wang L,Barbash DA,Kelleher ES

    更新日期:2020-06-11 00:00:00

  • A latent pro-survival function for the mir-290-295 cluster in mouse embryonic stem cells.

    abstract::MicroRNAs (miRNAs) post-transcriptionally regulate the expression of thousands of distinct mRNAs. While some regulatory interactions help to maintain basal cellular functions, others are likely relevant in more specific settings, such as response to stress. Here we describe such a role for the mir-290-295 cluster, the...

    journal_title:PLoS genetics

    pub_type: 杂志文章

    doi:10.1371/journal.pgen.1002054

    authors: Zheng GX,Ravi A,Calabrese JM,Medeiros LA,Kirak O,Dennis LM,Jaenisch R,Burge CB,Sharp PA

    更新日期:2011-05-01 00:00:00

  • PNUTS/PP1 regulates RNAPII-mediated gene expression and is necessary for developmental growth.

    abstract::In multicellular organisms, tight regulation of gene expression ensures appropriate tissue and organismal growth throughout development. Reversible phosphorylation of the RNA Polymerase II (RNAPII) C-terminal domain (CTD) is critical for the regulation of gene expression states, but how phosphorylation is actively mod...

    journal_title:PLoS genetics

    pub_type: 杂志文章

    doi:10.1371/journal.pgen.1003885

    authors: Ciurciu A,Duncalf L,Jonchere V,Lansdale N,Vasieva O,Glenday P,Rudenko A,Vissi E,Cobbe N,Alphey L,Bennett D

    更新日期:2013-10-01 00:00:00

  • ------Widespread conservation and lineage-specific diversification of genome-wide DNA methylation patterns across arthropods.

    abstract::Cytosine methylation is an ancient epigenetic modification yet its function and extent within genomes is highly variable across eukaryotes. In mammals, methylation controls transposable elements and regulates the promoters of genes. In insects, DNA methylation is generally restricted to a small subset of transcribed g...

    journal_title:PLoS genetics

    pub_type: 杂志文章

    doi:10.1371/journal.pgen.1008864

    authors: Lewis SH,Ross L,Bain SA,Pahita E,Smith SA,Cordaux R,Miska EA,Lenhard B,Jiggins FM,Sarkies P

    更新日期:2020-06-25 00:00:00

  • A kinase-independent role for the Rad3(ATR)-Rad26(ATRIP) complex in recruitment of Tel1(ATM) to telomeres in fission yeast.

    abstract::ATM and ATR are two redundant checkpoint kinases essential for the stable maintenance of telomeres in eukaryotes. Previous studies have established that MRN (Mre11-Rad50-Nbs1) and ATRIP (ATR Interacting Protein) interact with ATM and ATR, respectively, and recruit their partner kinases to sites of DNA damage. Here, we...

    journal_title:PLoS genetics

    pub_type: 杂志文章

    doi:10.1371/journal.pgen.1000839

    authors: Subramanian L,Nakamura TM

    更新日期:2010-02-05 00:00:00

  • Correction: Maternal Diet and Insulin-Like Signaling Control Intergenerational Plasticity of Progeny Size and Starvation Resistance.

    abstract::[This corrects the article DOI: 10.1371/journal.pgen.1006396.]. ...

    journal_title:PLoS genetics

    pub_type: 杂志文章,已发布勘误

    doi:10.1371/journal.pgen.1007639

    authors: Hibshman JD,Hung A,Baugh LR

    更新日期:2018-08-30 00:00:00

  • Mechanisms involved in the functional divergence of duplicated GroEL chaperonins in Myxococcus xanthus DK1622.

    abstract::The gene encoding the GroEL chaperonin is duplicated in nearly 30% of bacterial genomes; and although duplicated groEL genes have been comprehensively determined to have distinct physiological functions in different species, the mechanisms involved have not been characterized to date. Myxococcus xanthus DK1622 has two...

    journal_title:PLoS genetics

    pub_type: 杂志文章

    doi:10.1371/journal.pgen.1003306

    authors: Wang Y,Zhang WY,Zhang Z,Li J,Li ZF,Tan ZG,Zhang TT,Wu ZH,Liu H,Li YZ

    更新日期:2013-01-01 00:00:00

  • Retinoid-X-receptors (α/β) in melanocytes modulate innate immune responses and differentially regulate cell survival following UV irradiation.

    abstract::Understanding the molecular mechanisms of ultraviolet (UV) induced melanoma formation is becoming crucial with more reported cases each year. Expression of type II nuclear receptor Retinoid-X-Receptor α (RXRα) is lost during melanoma progression in humans. Here, we observed that in mice with melanocyte-specific ablati...

    journal_title:PLoS genetics

    pub_type: 杂志文章

    doi:10.1371/journal.pgen.1004321

    authors: Coleman DJ,Garcia G,Hyter S,Jang HS,Chagani S,Liang X,Larue L,Ganguli-Indra G,Indra AK

    更新日期:2014-05-08 00:00:00

  • An evolutionary analysis of antigen processing and presentation across different timescales reveals pervasive selection.

    abstract::The antigenic repertoire presented by MHC molecules is generated by the antigen processing and presentation (APP) pathway. We analyzed the evolutionary history of 45 genes involved in APP at the inter- and intra-species level. Results showed that 11 genes evolved adaptively in mammals. Several positively selected site...

    journal_title:PLoS genetics

    pub_type: 杂志文章

    doi:10.1371/journal.pgen.1004189

    authors: Forni D,Cagliani R,Tresoldi C,Pozzoli U,De Gioia L,Filippi G,Riva S,Menozzi G,Colleoni M,Biasin M,Lo Caputo S,Mazzotta F,Comi GP,Bresolin N,Clerici M,Sironi M

    更新日期:2014-03-27 00:00:00

  • Coronary artery disease genes SMAD3 and TCF21 promote opposing interactive genetic programs that regulate smooth muscle cell differentiation and disease risk.

    abstract::Although numerous genetic loci have been associated with coronary artery disease (CAD) with genome wide association studies, efforts are needed to identify the causal genes in these loci and link them into fundamental signaling pathways. Recent studies have investigated the disease mechanism of CAD associated gene SMA...

    journal_title:PLoS genetics

    pub_type: 杂志文章

    doi:10.1371/journal.pgen.1007681

    authors: Iyer D,Zhao Q,Wirka R,Naravane A,Nguyen T,Liu B,Nagao M,Cheng P,Miller CL,Kim JB,Pjanic M,Quertermous T

    更新日期:2018-10-11 00:00:00

  • The population genetics of evolutionary rescue.

    abstract::Evolutionary rescue occurs when a population that is threatened with extinction by an environmental change adapts to the change sufficiently rapidly to survive. Here we extend the mathematical theory of evolutionary rescue. In particular, we model evolutionary rescue to a sudden environmental change when adaptation in...

    journal_title:PLoS genetics

    pub_type: 杂志文章

    doi:10.1371/journal.pgen.1004551

    authors: Orr HA,Unckless RL

    更新日期:2014-08-14 00:00:00

  • Differential effects of RASA3 mutations on hematopoiesis are profoundly influenced by genetic background and molecular variant.

    abstract::Studies of the severely pancytopenic scat mouse model first demonstrated the crucial role of RASA3, a dual RAS and RAP GTPase activating protein (GAP), in hematopoiesis. RASA3 is required for survival in utero; germline deletion is lethal at E12.5-13.5 due to severe hemorrhage. Here, conditional deletion in hematopoie...

    journal_title:PLoS genetics

    pub_type: 杂志文章

    doi:10.1371/journal.pgen.1008857

    authors: Robledo RF,Ciciotte SL,Graber JH,Zhao Y,Lambert AJ,Gwynn B,Maki NJ,Brindley EC,Hartman E,Blanc L,Peters LL

    更新日期:2020-12-28 00:00:00

  • H3 lysine 4 is acetylated at active gene promoters and is regulated by H3 lysine 4 methylation.

    abstract::Methylation of histone H3 lysine 4 (H3K4me) is an evolutionarily conserved modification whose role in the regulation of gene expression has been extensively studied. In contrast, the function of H3K4 acetylation (H3K4ac) has received little attention because of a lack of tools to separate its function from that of H3K...

    journal_title:PLoS genetics

    pub_type: 杂志文章

    doi:10.1371/journal.pgen.1001354

    authors: Guillemette B,Drogaris P,Lin HH,Armstrong H,Hiragami-Hamada K,Imhof A,Bonneil E,Thibault P,Verreault A,Festenstein RJ

    更新日期:2011-03-01 00:00:00