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Table of Contents: August 2010

COVER

An eye-antennal imaginal disc containing TSC2 mutant clones.

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

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).

Interview

Review

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

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

Matthew Halvorsen, Joshua S. Martin, Sam Broadaway, Alain Laederach

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

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

Revital Bronstein, Liron Levkovitz, Nir Yosef, Michaela Yanku, Eytan Ruppin, Roded Sharan, Heiner Westphal, Brian Oliver, Daniel Segal

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

Tamra E. Meyer, Germaine C. Verwoert, Shih-Jen Hwang, Nicole L. Glazer, Albert V. Smith, Frank J. A. van Rooij, Georg B. Ehret, Eric Boerwinkle, Janine F. Felix, Tennille S. Leak, Tamara B. Harris, Qiong Yang, Abbas Dehghan, Thor Aspelund, Ronit Katz, Georg Homuth, Thomas Kocher, Rainer Rettig, Janina S. Ried, Christian Gieger, Hanna Prucha, Arne Pfeufer, Thomas Meitinger, Josef Coresh, Albert Hofman, Mark J. Sarnak, Yii-Der Ida Chen, André G. Uitterlinden, Aravinda Chakravarti, Bruce M. Psaty, Cornelia M. van Duijn, W. H. Linda Kao, Jacqueline C. M. Witteman, Vilmundur Gudnason, David S. Siscovick, Caroline S. Fox, Anna Köttgen , The Genetic Factors for Osteoporosis (GEFOS) Consortium, Meta Analysis of Glucose and Insulin Related Traits Consortium (MAGIC)

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

Rebecca M. Boumil, Verity A. Letts, Monica C. Roberts, Christine Lenz, Connie L. Mahaffey, Zhong-wei Zhang, Tobias Moser, Wayne N. Frankel

Dynamics of Rad9 Chromatin Binding and Checkpoint Function Are Mediated by Its Dimerization and Are Cell Cycle–Regulated by CDK1 Activity

Magda Granata, Federico Lazzaro, Daniele Novarina, Davide Panigada, Fabio Puddu, Carla Manuela Abreu, Ramesh Kumar, Muriel Grenon, Noel F. Lowndes, Paolo Plevani, Marco Muzi-Falconi

RNAi Screening Implicates a SKN-1–Dependent Transcriptional Response in Stress Resistance and Longevity Deriving from Translation Inhibition

Jinling Wang, Stacey Robida-Stubbs, Jennifer M. A. Tullet, Jean-François Rual, Marc Vidal, T. Keith Blackwell

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

Chao Agnes Hsiung, Qing Lan, Yun-Chul Hong, Chien-Jen Chen, H. Dean Hosgood III, I-Shou Chang, Nilanjan Chatterjee, Paul Brennan, Chen Wu, Wei Zheng, Gee-Chen Chang, Tangchun Wu, Jae Yong Park, Chin-Fu Hsiao, Yeul Hong Kim, Hongbing Shen, Adeline Seow, Meredith Yeager, Ying-Huang Tsai, Young Tae Kim, Wong-Ho Chow, Huan Guo, Wen-Chang Wang, Sook Whan Sung, Zhibin Hu, Kuan-Yu Chen, Joo Hyun Kim, Ying Chen, Liming Huang, Kyoung-Mu Lee, Yen-Li Lo, Yu-Tang Gao, Jin Hee Kim, Li Liu, Ming-Shyan Huang, Tae Hoon Jung, Guangfu Jin, Neil Caporaso, Dianke Yu, Chang Ho Kim, Wu-Chou Su, Xiao-Ou Shu, Ping Xu, In-San Kim, Yuh-Min Chen, Hongxia Ma, Min Shen, Sung Ick Cha, Wen Tan, Chin-Hao Chang, Jae Sook Sung, Mingfeng Zhang, Tsung-Ying Yang, Kyong Hwa Park, Jeff Yuenger, Chih-Liang Wang, Jeong-Seon Ryu, Yongbing Xiang, Qifei Deng, Amy Hutchinson, Jun Suk Kim, Qiuyin Cai, Maria Teresa Landi, Chong-Jen Yu, Ju-Yeon Park, Margaret Tucker, Jen-Yu Hung, Chien-Chung Lin, Reury-Perng Perng, Paolo Boffetta, Chih-Yi Chen, Kun-Chieh Chen, Shi-Yi Yang, Chi-Yuan Hu, Chung-Kai Chang, Joseph F. Fraumeni Jr, Stephen Chanock, Pan-Chyr Yang, Nathaniel Rothman, Dongxin Lin

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

Nancy L. Saccone, Robert C. Culverhouse, Tae-Hwi Schwantes-An, Dale S. Cannon, Xiangning Chen, Sven Cichon, Ina Giegling, Shizhong Han, Younghun Han, Kaisu Keskitalo-Vuokko, Xiangyang Kong, Maria Teresa Landi, Jennie Z. Ma, Susan E. Short, Sarah H. Stephens, Victoria L. Stevens, Lingwei Sun, Yufei Wang, Angela S. Wenzlaff, Steven H. Aggen, Naomi Breslau, Peter Broderick, Nilanjan Chatterjee, Jingchun Chen, Andrew C. Heath, Markku Heliövaara, Nicole R. Hoft, David J. Hunter, Majken K. Jensen, Nicholas G. Martin, Grant W. Montgomery, Tianhua Niu, Thomas J. Payne, Leena Peltonen, Michele L. Pergadia, John P. Rice, Richard Sherva, Margaret R. Spitz, Juzhong Sun, Jen C. Wang, Robert B. Weiss, William Wheeler, Stephanie H. Witt, Bao-Zhu Yang, Neil E. Caporaso, Marissa A. Ehringer, Tim Eisen, Susan M. Gapstur, Joel Gelernter, Richard Houlston, Jaakko Kaprio, Kenneth S. Kendler, Peter Kraft, Mark F. Leppert, Ming D. Li, Pamela A. F. Madden, Markus M. Nöthen, Sreekumar Pillai, Marcella Rietschel, Dan Rujescu, Ann Schwartz, Christopher I. Amos, Laura J. Bierut

Multivesicular Body Formation Requires OSBP–Related Proteins and Cholesterol

Hiroyuki Kobuna, Takao Inoue, Machiko Shibata, Keiko Gengyo-Ando, Akitsugu Yamamoto, Shohei Mitani, Hiroyuki Arai