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  • Constraints on eQTL Fine Mapping in the Presence of Multi-site Local Regulation of Gene Expression
    Biao Zeng, Luke R. Lloyd-Jones, Alexander Holloway, Urko M. Marigorta, Andres Metspalu, Grant W. Montgomery, Tonu Esko, Kenneth L. Brigham, Arshed A. Quyyumi, Youssef Idaghdour, Jian Yang, Peter M. Visscher, Joseph E. Powell, Greg Gibson
    G3: Genes|Genomes|Genetics June 2017 g3.117.043752; https://doi.org/10.1534/g3.117.043752
    ...Constraints on eQTL fine mapping in the presence of multi-site local regulation of gene expression Biao Zeng*, Luke R. Lloyd-Jones, Alexander Holloway, Urko M. Marigorta*, Andres Metspalu, Grant W. Montgomery, Tonu Esko, Kenneth L. Brigham, Arshed A. Quyyumi, Youssef Idaghdour, Jian Yang ~~~
  • A Model for Epigenetic Inhibition via Transvection in the Mouse
    Juan D. Rodriguez, Dexter A. Myrick, Ilaria Falciatori, Michael A. Christopher, Teresa W. Lee, Gregory J. Hannon, David J. Katz
    Genetics July 2017 genetics.117.201913; https://doi.org/10.1534/genetics.117.201913
    ...generation to our crossing scheme. This finding confirms that the LoxP sites are inhibited via an epigenetic mechanism, and provides a method for the use of other Cre transgenes associated with a similar LoxP inhibition event. Furthermore, the abrogation of LoxP inhibition by the simple addition of an extra ~~~
  • Untangling Heteroplasmy, Structure, and Evolution of an Atypical Mitochondrial Genome by PacBio Sequencing
    Jean Peccoud, Mohamed Amine Chebbi, Alexandre Cormier, Bouziane Moumen, Clément Gilbert, Isabelle Marcadé, Christopher Chandler, Richard Cordaux
    Genetics July 2017 genetics.117.203380; https://doi.org/10.1534/genetics.117.203380
    ..., several loci can individually encode two tRNAs, thanks to single-nucleotide 31 polymorphisms at anticodon sites. Within-individual variation (heteroplasmy) at these loci is thought 32 to have been maintained for millions of years because individuals that do not carry all tRNA genes 33 die, resulting ~~~
  • Two Types of Etiological Mutation in the Limb-Specific Enhancer of Shh
    Takanori Amano, Tomoko Sagai, Ryohei Seki, Toshihiko Shiroishi
    G3: Genes|Genomes|Genetics July 2017 g3.117.044669; https://doi.org/10.1534/g3.117.044669
    ..., 2011; Anderson et al., 2012). In the mouse, a spontaneous mouse mutation Hx, and the N-ethyl-N-nitrosourea (ENU)-induced mouse mutations, M100081, M101116 and DZ, have a single nucleotide substitution at different sites in MFCS1, and they all show a typical PPD phenotype with ectopic Shh expression ~~~
  • Decomposing the Site Frequency Spectrum: The Impact of Tree Topology on Neutrality Tests
    Luca Ferretti, Alice Ledda, Thomas Wiehe, Guillaume Achaz, Sebastian E. Ramos-Onsins
    Genetics July 2017 genetics.116.188763; https://doi.org/10.1534/genetics.116.188763
    ...Decomposing the Site Frequency Spectrum: the impact of tree topology on neutrality tests Luca Ferretti1, Alice Ledda2, Thomas Wiehe3, Guillaume Achaz4 and Sebastian E. Ramos-Onsins5 (1) The Pirbright Institute, Woking, UK. (2) Department of Infectious Disease Epidemiology, Imperial College, London ~~~
  • RNA Binding Protein Vigilin Collaborates with miRNAs To Regulate Gene Expression for Caenorhabditis elegans Larval Development
    Rebecca A. Zabinsky, Brett Weum, Mingxue Cui, Min Han
    G3: Genes|Genomes|Genetics June 2017 g3.117.043414; https://doi.org/10.1534/g3.117.043414
    ...identified five specific miRNAs and miRNA families that act semi-redundantly with VGLN-1 to regulate larval development. By RIP-Seq analysis, we identified mRNAs that are directly bound by VGLN-1 and highly enriched for miRNA binding sites, leading to a hypothesis that VGLN-1 may share common targets with mi ~~~
  • Caenorhabditis elegans CES-1 Snail Represses pig-1 MELK Expression To Control Asymmetric Cell Division
    Hai Wei, Bo Yan, Julien Gagneur, Barbara Conradt
    Genetics June 2017 genetics.117.202754; https://doi.org/10.1534/genetics.117.202754
    ...27 the expression of cdc-25.2 CDC25. However, the mechanism through which CES-1 Snail 28 affects cell polarity has been elusive. Here, we systematically searched for direct targets of 29 CES-1 Snail by genome-wide profiling of CES-1 Snail binding sites and identified more 30 than 3,000 potential CES ~~~
  • Transcriptional Complexity and Distinct Expression Patterns of auts2 Paralogs in Danio rerio
    Igor Kondrychyn, Lena Robra, Vatsala Thirumalai
    G3: Genes|Genomes|Genetics June 2017 g3.117.042622; https://doi.org/10.1534/g3.117.042622
    ...analysis of cDNA clones from our 5-RACE and RT-PCR experiments (see below). The 104 putative alternative transcription start sites (TSSs) were identified using our 5-RACE data 105 and RNASeq gene models, generated from the Wellcome Trust Sanger Institute Zebrafish 106 Transcriptome Sequencing Project ~~~
  • McClintock: An Integrated Pipeline for Detecting Transposable Element Insertions in Whole Genome Shotgun Sequencing Data
    Michael G. Nelson, Raquel S. Linheiro, Casey M. Bergman
    G3: Genes|Genomes|Genetics June 2017 g3.117.043893; https://doi.org/10.1534/g3.117.043893
    ...positional accuracy. Analysis of a large sample of real yeast genomes reveals that most McClintock component methods can recover known aspects of TE biology in yeast such as the transpositional activity status of families, target preferences, and target site duplication structure, albeit with varying levels ~~~
  • Tracing Genetic Exchange and Biogeography of Cryptococcus neoformans var. grubii at the Global Population Level
    Johanna Rhodes, Christopher A. Desjardins, Sean M. Sykes, Mathew A. Beale, Mathieu Vanhove, Sharadha Sakthikumar, Yuan Chen, Sharvari Gujja, Sakina Saif, Anuradha Chowdhary, Daniel John Lawson, Vinicius Ponzio, Arnaldo Lopes Colombo, Wieland Meyer, David M. Engelthaler, Ferry Hagen, Maria Teresa Illnait-Zaragozi, Alexandre Alanio, Jo-Marie Vreulink, Joseph Heitman, John R. Perfect, Anastasia Litvintseva, Tihana Bicanic, Thomas S. Harrison, Matthew C. Fisher, Christina A. Cuomo
    Genetics July 2017 genetics.117.203836; https://doi.org/10.1534/genetics.117.203836
    ...using GATK version 3.4-46 210 HaplotypeCaller in GVCF mode with ploidy = 1, and genotypeGVCFs was used to predict 211 variants in each isolate. All VCFs were then combined and sites were filtered using 212 variantFiltration with QD < 2.0, FS > 60.0, and MQ < 40.0. Individual genotypes were ~~~

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