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Table of Contents: February 2012

COVER

Anterior development during early mouse embryogenesis.

Image Credit: Kenichiro Taniguchi and David Wotton (University of Virginia).
Issue Image

Holoprosencephaly is a severe genetic disease affecting human brain and craniofacial development. The work by Taniguchi et al. demonstrates that Tgif1, a gene implicated in human holoprosencephaly, is involved in regulating Sonic Hedgehog signaling and forebrain development during early mouse embryogenesis. This image shows a scanning electron micrograph of the frontal view of a normal mouse embryo at nine days post fertilization.

Perspectives

Diced Triplets Expose Neurons to RISC

Dobrila D. Rudnicki, Russell L. Margolis, Christopher E. Pearson, Wlodzimierz J. Krzyzosiak

Research Articles

Cell Lineage Analysis of the Mammalian Female Germline

Yitzhak Reizel, Shalev Itzkovitz, Rivka Adar, Judith Elbaz, Adrian Jinich, Noa Chapal-Ilani, Yosef E. Maruvka, Nava Nevo, Zipora Marx, Inna Horovitz, Adam Wasserstrom, Avi Mayo, Irena Shur, Dafna Benayahu, Karl Skorecki, Eran Segal, Nava Dekel, Ehud Shapiro

A Pathogenic Mechanism in Huntington's Disease Involves Small CAG-Repeated RNAs with Neurotoxic Activity

Mónica Bañez-Coronel, Silvia Porta, Birgit Kagerbauer, Elisabet Mateu-Huertas, Lorena Pantano, Isidre Ferrer, Manuel Guzmán, Xavier Estivill, Eulàlia Martí

Coexpression Network Analysis in Abdominal and Gluteal Adipose Tissue Reveals Regulatory Genetic Loci for Metabolic Syndrome and Related Phenotypes

Josine L. Min, George Nicholson, Ingileif Halgrimsdottir, Kristian Almstrup, Andreas Petri, Amy Barrett, Mary Travers, Nigel W. Rayner, Reedik Mägi, Fredrik H. Pettersson, John Broxholme, Matt J. Neville, Quin F. Wills, Jane Cheeseman, Maxine Allen, Chris C. Holmes, Tim D. Spector, Jan Fleckner, Mark I. McCarthy, Fredrik Karpe, Cecilia M. Lindgren, Krina T. Zondervan , The GIANT Consortium, The MolPAGE Consortium

Genome-Wide Association Study Identifies Chromosome 10q24.32 Variants Associated with Arsenic Metabolism and Toxicity Phenotypes in Bangladesh

Brandon L. Pierce, Muhammad G. Kibriya, Lin Tong, Farzana Jasmine, Maria Argos, Shantanu Roy, Rachelle Paul-Brutus, Ronald Rahaman, Muhammad Rakibuz-Zaman, Faruque Parvez, Alauddin Ahmed, Iftekhar Quasem, Samar K. Hore, Shafiul Alam, Tariqul Islam, Vesna Slavkovich, Mary V. Gamble, Md Yunus, Mahfuzar Rahman, John A. Baron, Joseph H. Graziano, Habibul Ahsan

Association of a Functional Variant in the Wnt Co-Receptor LRP6 with Early Onset Ileal Crohn's Disease

Maureen J. Koslowski, Zora Teltschik, Julia Beisner, Elke Schaeffeler, Guoxing Wang, Irmgard Kübler, Michael Gersemann, Rachel Cooney, Derek Jewell, Walter Reinisch, Séverine Vermeire, Paul Rutgeerts, Matthias Schwab, Eduard F. Stange, Jan Wehkamp

Loss of Tgif Function Causes Holoprosencephaly by Disrupting the Shh Signaling Pathway

Kenichiro Taniguchi, Anoush E. Anderson, Ann E. Sutherland, David Wotton

Genome-Wide Association Study in East Asians Identifies Novel Susceptibility Loci for Breast Cancer

Jirong Long, Qiuyin Cai, Hyuna Sung, Jiajun Shi, Ben Zhang, Ji-Yeob Choi, Wanqing Wen, Ryan J. Delahanty, Wei Lu, Yu-Tang Gao, Hongbing Shen, Sue K. Park, Kexin Chen, Chen-Yang Shen, Zefang Ren, Christopher A. Haiman, Keitaro Matsuo, Mi Kyung Kim, Ui Soon Khoo, Motoki Iwasaki, Ying Zheng, Yong-Bing Xiang, Kai Gu, Nathaniel Rothman, Wenjing Wang, Zhibin Hu, Yao Liu, Keun-Young Yoo, Dong-Young Noh, Bok-Ghee Han, Min Hyuk Lee, Hong Zheng, Lina Zhang, Pei-Ei Wu, Ya-Lan Shieh, Sum Yin Chan, Shenming Wang, Xiaoming Xie, Sung-Won Kim, Brian E. Henderson, Loic Le Marchand, Hidemi Ito, Yoshio Kasuga, Sei-Hyun Ahn, Han Sung Kang, Kelvin Y. K. Chan, Hiroji Iwata, Shoichiro Tsugane, Chun Li, Xiao-Ou Shu, Dae-Hee Kang, Wei Zheng

Genomic Restructuring in the Tasmanian Devil Facial Tumour: Chromosome Painting and Gene Mapping Provide Clues to Evolution of a Transmissible Tumour

Janine E. Deakin, Hannah S. Bender, Anne-Maree Pearse, Willem Rens, Patricia C. M. O'Brien, Malcolm A. Ferguson-Smith, Yuanyuan Cheng, Katrina Morris, Robyn Taylor, Andrew Stuart, Katherine Belov, Chris T. Amemiya, Elizabeth P. Murchison, Anthony T. Papenfuss, Jennifer A. Marshall Graves

Genome-Wide Association Study Identifies Novel Loci Associated with Circulating Phospho- and Sphingolipid Concentrations

Ayşe Demirkan, Cornelia M. van Duijn, Peter Ugocsai, Aaron Isaacs, Peter P. Pramstaller, Gerhard Liebisch, James F. Wilson, Åsa Johansson, Igor Rudan, Yurii S. Aulchenko, Anatoly V. Kirichenko, A. Cecile J. W. Janssens, Ritsert C. Jansen, Carsten Gnewuch, Francisco S. Domingues, Cristian Pattaro, Sarah H. Wild, Inger Jonasson, Ozren Polasek, Irina V. Zorkoltseva, Albert Hofman, Lennart C. Karssen, Maksim Struchalin, James Floyd, Wilmar Igl, Zrinka Biloglav, Linda Broer, Arne Pfeufer, Irene Pichler, Susan Campbell, Ghazal Zaboli, Ivana Kolcic, Fernando Rivadeneira, Jennifer Huffman, Nicholas D. Hastie, Andre Uitterlinden, Lude Franke, Christopher S. Franklin, Veronique Vitart, Christopher P. Nelson, Michael Preuss, Joshua C. Bis, Christopher J. O'Donnell, Nora Franceschini, Jacqueline C. M. Witteman, Tatiana Axenovich, Ben A. Oostra, Thomas Meitinger, Andrew A. Hicks, Caroline Hayward, Alan F. Wright, Ulf Gyllensten, Harry Campbell, Gerd Schmitz , DIAGRAM Consortium, CARDIoGRAM Consortium, CHARGE Consortium, on behalf of the EUROSPAN consortium

A Strong Deletion Bias in Nonallelic Gene Conversion

Raquel Assis, Alexey S. Kondrashov

Nondisjunction of a Single Chromosome Leads to Breakage and Activation of DNA Damage Checkpoint in G2

Oliver Quevedo, Jonay García-Luis, Emiliano Matos-Perdomo, Luis Aragón, Félix Machín

Psoriasis Patients Are Enriched for Genetic Variants That Protect against HIV-1 Disease

Haoyan Chen, Genki Hayashi, Olivia Y. Lai, Alexander Dilthey, Peter J. Kuebler, Tami V. Wong, Maureen P. Martin, Marcelo A. Fernandez Vina, Gil McVean, Matthias Wabl, Kieron S. Leslie, Toby Maurer, Jeffrey N. Martin, Steven G. Deeks, Mary Carrington, Anne M. Bowcock, Douglas F. Nixon, Wilson Liao

Repression of a Potassium Channel by Nuclear Hormone Receptor and TGF-β Signaling Modulates Insulin Signaling in Caenorhabditis elegans

Donha Park, Karen L. Jones, Hyojin Lee, Terrance P. Snutch, Stefan Taubert, Donald L. Riddle

Discovery of a Modified Tetrapolar Sexual Cycle in Cryptococcus amylolentus and the Evolution of MAT in the Cryptococcus Species Complex

Keisha Findley, Sheng Sun, James A. Fraser, Yen-Ping Hsueh, Anna Floyd Averette, Wenjun Li, Fred S. Dietrich, Joseph Heitman

The Origin and Nature of Tightly Clustered BTG1 Deletions in Precursor B-Cell Acute Lymphoblastic Leukemia Support a Model of Multiclonal Evolution

Esmé Waanders, Blanca Scheijen, Laurens T. van der Meer, Simon V. van Reijmersdal, Liesbeth van Emst, Yvet Kroeze, Edwin Sonneveld, Peter M. Hoogerbrugge, Ad Geurts van Kessel, Frank N. van Leeuwen, Roland P. Kuiper

Familial Identification: Population Structure and Relationship Distinguishability

Rori V. Rohlfs, Stephanie Malia Fullerton, Bruce S. Weir

Gene Expression and Stress Response Mediated by the Epigenetic Regulation of a Transposable Element Small RNA

Andrea D. McCue, Saivageethi Nuthikattu, Sarah H. Reeder, R. Keith Slotkin

Structural Basis of Transcriptional Gene Silencing Mediated by Arabidopsis MOM1

Taisuke Nishimura, Guillaume Molinard, Tom J. Petty, Larissa Broger, Caroline Gabus, Thanos D. Halazonetis, Stéphane Thore, Jerzy Paszkowski

Phosphorylation of Chromosome Core Components May Serve as Axis Marks for the Status of Chromosomal Events during Mammalian Meiosis

Tomoyuki Fukuda, Florencia Pratto, John C. Schimenti, James M. A. Turner, R. Daniel Camerini-Otero, Christer Höög

A Regulatory Network for Coordinated Flower Maturation

Paul H. Reeves, Christine M. Ellis, Sara E. Ploense, Miin-Feng Wu, Vandana Yadav, Dorothea Tholl, Aurore Chételat, Ina Haupt, Brian J. Kennerley, Charles Hodgens, Edward E. Farmer, Punita Nagpal, Jason W. Reed

Rewiring of PDZ Domain-Ligand Interaction Network Contributed to Eukaryotic Evolution

Jinho Kim, Inhae Kim, Jae-Seong Yang, Young-Eun Shin, Jihye Hwang, Solip Park, Yoon Sup Choi, Sanguk Kim

Ultrafast Evolution and Loss of CRISPRs Following a Host Shift in a Novel Wildlife Pathogen, Mycoplasma gallisepticum

Nigel F. Delaney, Susan Balenger, Camille Bonneaud, Christopher J. Marx, Geoffrey E. Hill, Naola Ferguson-Noel, Peter Tsai, Allen Rodrigo, Scott V. Edwards

Neurophysiological Defects and Neuronal Gene Deregulation in Drosophila mir-124 Mutants

Kailiang Sun, Jakub Orzechowski Westholm, Kazuya Tsurudome, Joshua W. Hagen, Yubing Lu, Minoree Kohwi, Doron Betel, Fen-Biao Gao, A. Pejmun Haghighi, Chris Q. Doe, Eric C. Lai

The Dynamics and Prognostic Potential of DNA Methylation Changes at Stem Cell Gene Loci in Women's Cancer

Joanna Zhuang, Allison Jones, Shih-Han Lee, Esther Ng, Heidi Fiegl, Michal Zikan, David Cibula, Alexandra Sargent, Helga B. Salvesen, Ian J. Jacobs, Henry C. Kitchener, Andrew E. Teschendorff, Martin Widschwendter

Negative Supercoiling Creates Single-Stranded Patches of DNA That Are Substrates for AID–Mediated Mutagenesis

Jahan-Yar Parsa, Shaliny Ramachandran, Ahmad Zaheen, Rajeev M. Nepal, Anat Kapelnikov, Antoaneta Belcheva, Maribel Berru, Diana Ronai, Alberto Martin

Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders

Claire S. Leblond, Jutta Heinrich, Richard Delorme, Christian Proepper, Catalina Betancur, Guillaume Huguet, Marina Konyukh, Pauline Chaste, Elodie Ey, Maria Rastam, Henrik Anckarsäter, Gudrun Nygren, I. Carina Gillberg, Jonas Melke, Roberto Toro, Beatrice Regnault, Fabien Fauchereau, Oriane Mercati, Nathalie Lemière, David Skuse, Martin Poot, Richard Holt, Anthony P. Monaco, Irma Järvelä, Katri Kantojärvi, Raija Vanhala, Sarah Curran, David A. Collier, Patrick Bolton, Andreas Chiocchetti, Sabine M. Klauck, Fritz Poustka, Christine M. Freitag, Regina Waltes, Marnie Kopp, Eftichia Duketis, Elena Bacchelli, Fiorella Minopoli, Liliana Ruta, Agatino Battaglia, Luigi Mazzone, Elena Maestrini, Ana F. Sequeira, Barbara Oliveira, Astrid Vicente, Guiomar Oliveira, Dalila Pinto, Stephen W. Scherer, Diana Zelenika, Marc Delepine, Mark Lathrop, Dominique Bonneau, Vincent Guinchat, Françoise Devillard, Brigitte Assouline, Marie-Christine Mouren, Marion Leboyer, Christopher Gillberg, Tobias M. Boeckers, Thomas Bourgeron

Mixed Effects Modeling of Proliferation Rates in Cell-Based Models: Consequence for Pharmacogenomics and Cancer

Hae Kyung Im, Eric R. Gamazon, Amy L. Stark, R. Stephanie Huang, Nancy J. Cox, M. Eileen Dolan

GTPase Activity and Neuronal Toxicity of Parkinson's Disease–Associated LRRK2 Is Regulated by ArfGAP1

Klodjan Stafa, Alzbeta Trancikova, Philip J. Webber, Liliane Glauser, Andrew B. West, Darren J. Moore

Reduction of NADPH-Oxidase Activity Ameliorates the Cardiovascular Phenotype in a Mouse Model of Williams-Beuren Syndrome

Victoria Campuzano, Maria Segura-Puimedon, Verena Terrado, Carolina Sánchez-Rodríguez, Mathilde Coustets, Mauricio Menacho-Márquez, Julián Nevado, Xosé R. Bustelo, Uta Francke, Luis A. Pérez-Jurado

The Mitochondrial Chaperone Protein TRAP1 Mitigates α-Synuclein Toxicity

Erin K. Butler, Aaron Voigt, A. Kathrin Lutz, Jane P. Toegel, Ellen Gerhardt, Peter Karsten, Björn Falkenburger, Andrea Reinartz, Konstanze F. Winklhofer, Jörg B. Schulz

The Empirical Power of Rare Variant Association Methods: Results from Sanger Sequencing in 1,998 Individuals

Martin Ladouceur, Zari Dastani, Yurii S. Aulchenko, Celia M. T. Greenwood, J. Brent Richards

Raf1 Is a DCAF for the Rik1 DDB1-Like Protein and Has Separable Roles in siRNA Generation and Chromatin Modification

Alessia Buscaino, Sharon A. White, Douglas R. Houston, Erwan Lejeune, Femke Simmer, Flavia de Lima Alves, Piyush T. Diyora, Takeshi Urano, Elizabeth H. Bayne, Juri Rappsilber, Robin C. Allshire

Inter-Homolog Crossing-Over and Synapsis in Arabidopsis Meiosis Are Dependent on the Chromosome Axis Protein AtASY3

Maheen Ferdous, James D. Higgins, Kim Osman, Christophe Lambing, Elisabeth Roitinger, Karl Mechtler, Susan J. Armstrong, Ruth Perry, Mónica Pradillo, Nieves Cuñado, F. Chris H. Franklin