Table of Contents

August 2010

Mutations in either TSC1 or TSC2 result in tuberous sclerosis, a rare genetic disease that causes benign tumors. In this issue of PLoS Genetics, Hsieh et al. report that TSC1 and TSC2 in Drosophila regulate dE2F1 protein expression and cooperate with RBF1 to control cellular survival and proliferation. This image is an eye-antennal imaginal disc that contains tsc2 mutant clones. In the tsc2 mutant clones (GFP negative), dE2F1 proteins (red) are expressed at a higher level compared to the neighboring wild type clones (GFP positive cells). The difference can be clearly seen in photoreceptors that are marked by ELAV (blue).

Image Credit: Ting-Chiu Hsieh and Nam-Sung Moon



Transmission of Mitochondrial DNA Diseases and Ways to Prevent Them

Joanna Poulton, Marcos R. Chiaratti, Flávio V. Meirelles, Stephen Kennedy, Dagan Wells, Ian J. Holt

Research Articles

Inactivation of VCP/ter94 Suppresses Retinal Pathology Caused by Misfolded Rhodopsin in Drosophila

Ana Griciuc, Liviu Aron, Michel J. Roux, Rüdiger Klein, Angela Giangrande, Marius Ueffing

Consistent Association of Type 2 Diabetes Risk Variants Found in Europeans in Diverse Racial and Ethnic Groups

Kevin M. Waters, Daniel O. Stram, Mohamed T. Hassanein, Loïc Le Marchand, Lynne R. Wilkens, Gertraud Maskarinec, Kristine R. Monroe, Laurence N. Kolonel, David Altshuler, Brian E. Henderson, Christopher A. Haiman

Identification of the Bovine Arachnomelia Mutation by Massively Parallel Sequencing Implicates Sulfite Oxidase (SUOX) in Bone Development

Cord Drögemüller, Jens Tetens, Snaevar Sigurdsson, Arcangelo Gentile, Stefania Testoni, Kerstin Lindblad-Toh, Tosso Leeb

Did Genetic Drift Drive Increases in Genome Complexity?

Kenneth D. Whitney, Theodore Garland Jr

Mutation in the Gene Encoding Ubiquitin Ligase LRSAM1 in Patients with Charcot-Marie-Tooth Disease

Duane L. Guernsey, Haiyan Jiang, Karen Bedard, Susan C. Evans, Meghan Ferguson, Makoto Matsuoka, Christine Macgillivray, Mathew Nightingale, Scott Perry, Andrea L. Rideout, Andrew Orr, Mark Ludman, David L. Skidmore, Timothy Benstead, Mark E. Samuels

Genetic Analysis of Baker's Yeast Msh4-Msh5 Reveals a Threshold Crossover Level for Meiotic Viability

K. T. Nishant, Cheng Chen, Miki Shinohara, Akira Shinohara, Eric Alani

Ancient Protostome Origin of Chemosensory Ionotropic Glutamate Receptors and the Evolution of Insect Taste and Olfaction

Vincent Croset, Raphael Rytz, Scott F. Cummins, Aidan Budd, David Brawand, Henrik Kaessmann, Toby J. Gibson, Richard Benton

Genome-Wide Profiling of p63 DNA–Binding Sites Identifies an Element that Regulates Gene Expression during Limb Development in the 7q21 SHFM1 Locus

Evelyn N. Kouwenhoven, Simon J. van Heeringen, Juan J. Tena, Martin Oti, Bas E. Dutilh, M. Eva Alonso, Elisa de la Calle-Mustienes, Leonie Smeenk, Tuula Rinne, Lilian Parsaulian, Emine Bolat, Rasa Jurgelenaite, Martijn A. Huynen, Alexander Hoischen, Joris A. Veltman, Han G. Brunner, Tony Roscioli, Emily Oates, Meredith Wilson, Miguel Manzanares, José Luis Gómez-Skarmeta, Hendrik G. Stunnenberg, Marion Lohrum, Hans van Bokhoven, Huiqing Zhou

A Global Overview of the Genetic and Functional Diversity in the Helicobacter pylori cag Pathogenicity Island

Patrick Olbermann, Christine Josenhans, Yoshan Moodley, Markus Uhr, Christiana Stamer, Marc Vauterin, Sebastian Suerbaum, Mark Achtman, Bodo Linz

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The Transcriptomes of Two Heritable Cell Types Illuminate the Circuit Governing Their Differentiation

Brian B. Tuch, Quinn M. Mitrovich, Oliver R. Homann, Aaron D. Hernday, Cinna K. Monighetti, Francisco M. De La Vega, Alexander D. Johnson

Microtubule Actin Crosslinking Factor 1 Regulates the Balbiani Body and Animal-Vegetal Polarity of the Zebrafish Oocyte

Tripti Gupta, Florence L. Marlow, Deborah Ferriola, Katarzyna Mackiewicz, Johannes Dapprich, Dimitri Monos, Mary C. Mullins

Disease-Associated Mutations That Alter the RNA Structural Ensemble

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A Wnt-Frz/Ror-Dsh Pathway Regulates Neurite Outgrowth in Caenorhabditis elegans

Song Song, Bo Zhang, Hui Sun, Xia Li, Yanhui Xiang, Zhonghua Liu, Xun Huang, Mei Ding

Conserved Role of unc-79 in Ethanol Responses in Lightweight Mutant Mice

David J. Speca, Daisuke Chihara, Amir M. Ashique, M. Scott Bowers, Jonathan T. Pierce-Shimomura, Jungsoo Lee, Nusrat Rabbee, Terence P. Speed, Rodrigo J. Gularte, James Chitwood, Juan F. Medrano, Mark Liao, James M. Sonner, Edmond I. Eger II, Andrew S. Peterson, Steven L. McIntire

Common Inherited Variation in Mitochondrial Genes Is Not Enriched for Associations with Type 2 Diabetes or Related Glycemic Traits

Ayellet V. Segrè, DIAGRAM Consortium, MAGIC investigators, Leif Groop, Vamsi K. Mootha, Mark J. Daly, David Altshuler

Dynamic Chromatin Organization during Foregut Development Mediated by the Organ Selector Gene PHA-4/FoxA

Tala H. I. Fakhouri, Jeff Stevenson, Andrew D. Chisholm, Susan E. Mango

Telomere Disruption Results in Non-Random Formation of De Novo Dicentric Chromosomes Involving Acrocentric Human Chromosomes

Kaitlin M. Stimpson, Ihn Young Song, Anna Jauch, Heidi Holtgreve-Grez, Karen E. Hayden, Joanna M. Bridger, Beth A. Sullivan

Mouse TRIP13/PCH2 Is Required for Recombination and Normal Higher-Order Chromosome Structure during Meiosis

Ignasi Roig, James A. Dowdle, Attila Toth, Dirk G. de Rooij, Maria Jasin, Scott Keeney

Transcriptional Regulation by CHIP/LDB Complexes

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Genome-Wide Association Studies of Serum Magnesium, Potassium, and Sodium Concentrations Identify Six Loci Influencing Serum Magnesium Levels

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A Missense Mutation in a Highly Conserved Alternate Exon of Dynamin-1 Causes Epilepsy in Fitful Mice

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The Extinction Dynamics of Bacterial Pseudogenes

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The 5p15.33 Locus Is Associated with Risk of Lung Adenocarcinoma in Never-Smoking Females in Asia

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Multiple Independent Loci at Chromosome 15q25.1 Affect Smoking Quantity: a Meta-Analysis and Comparison with Lung Cancer and COPD

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Multivesicular Body Formation Requires OSBP–Related Proteins and Cholesterol

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