Advertisement

Table of Contents: May 2012

COVER

Inactivation of FAM20C leads to hypophosphatemic rickets.

Image Credit: Xiaofang Wang (Texas A&M Health Science Center, Baylor College of Dentistry).
Issue Image

The Sox2-Cre—mediated conditional knockout (cKO) of Fam20c leads to significant skeletal defects. X-ray imaging of 5-month-old cKO mice (right) shows smaller stature, distorted spine, and hypomineralized skeleton when compared with their wild type littermates (left). The skeletal defects along with lower phosphorus and higher FGF23 levels in the serum of cKO mice are consistent with a diagnosis of hypophosphatemic rickets, indicating that FAM20C plays an essential role in biomineralization and maintenance of total body phosphorus homeostasis. See Wang et al.

Interview

Perspectives

Slowing Replication in Preparation for Reduction

Katherine S. Lawrence, JoAnne Engebrecht

Research Articles

The App-Runx1 Region Is Critical for Birth Defects and Electrocardiographic Dysfunctions Observed in a Down Syndrome Mouse Model

Matthieu Raveau, Jacques M. Lignon, Valérie Nalesso, Arnaud Duchon, Yoram Groner, Andrew J. Sharp, Doulaye Dembele, Véronique Brault, Yann Hérault

Stratifying Type 2 Diabetes Cases by BMI Identifies Genetic Risk Variants in LAMA1 and Enrichment for Risk Variants in Lean Compared to Obese Cases

John R. B. Perry, Benjamin F. Voight, Loïc Yengo, Najaf Amin, Josée Dupuis, Martha Ganser, Harald Grallert, Pau Navarro, Man Li, Lu Qi, Valgerdur Steinthorsdottir, Robert A. Scott, Peter Almgren, Dan E. Arking, Yurii Aulchenko, Beverley Balkau, Rafn Benediktsson, Richard N. Bergman, Eric Boerwinkle, Lori Bonnycastle, Noël P. Burtt, Harry Campbell, Guillaume Charpentier, Francis S. Collins, Christian Gieger, Todd Green, Samy Hadjadj, Andrew T. Hattersley, Christian Herder, Albert Hofman, Andrew D. Johnson, Anna Kottgen, Peter Kraft, Yann Labrune, Claudia Langenberg, Alisa K. Manning, Karen L. Mohlke, Andrew P. Morris, Ben Oostra, James Pankow, Ann-Kristin Petersen, Peter P. Pramstaller, Inga Prokopenko, Wolfgang Rathmann, William Rayner, Michael Roden, Igor Rudan, Denis Rybin, Laura J. Scott, Gunnar Sigurdsson, Rob Sladek, Gudmar Thorleifsson, Unnur Thorsteinsdottir, Jaakko Tuomilehto, Andre G. Uitterlinden, Sidonie Vivequin, Michael N. Weedon, Alan F. Wright, Frank B. Hu, Thomas Illig, Linda Kao, James B. Meigs, James F. Wilson, Kari Stefansson, Cornelia van Duijn, David Altschuler, Andrew D. Morris, Michael Boehnke, Mark I. McCarthy, Philippe Froguel, Colin N. A. Palmer, Nicholas J. Wareham, Leif Groop, Timothy M. Frayling, Stéphane Cauchi , MAGIC, DIAGRAM Consortium, GIANT Consortium

Genome-Wide Analysis of GLD-1–Mediated mRNA Regulation Suggests a Role in mRNA Storage

Claudia Scheckel, Dimos Gaidatzis, Jane E. Wright, Rafal Ciosk

Six Novel Susceptibility Loci for Early-Onset Androgenetic Alopecia and Their Unexpected Association with Common Diseases

Rui Li, Felix F. Brockschmidt, Amy K. Kiefer, Hreinn Stefansson, Dale R. Nyholt, Kijoung Song, Sita H. Vermeulen, Stavroula Kanoni, Daniel Glass, Sarah E. Medland, Maria Dimitriou, Dawn Waterworth, Joyce Y. Tung, Frank Geller, Stefanie Heilmann, Axel M. Hillmer, Veronique Bataille, Sibylle Eigelshoven, Sandra Hanneken, Susanne Moebus, Christine Herold, Martin den Heijer, Grant W. Montgomery, Panos Deloukas, Nicholas Eriksson, Andrew C. Heath, Tim Becker, Patrick Sulem, Massimo Mangino, Peter Vollenweider, Tim D. Spector, George Dedoussis, Nicholas G. Martin, Lambertus A. Kiemeney, Vincent Mooser, Kari Stefansson, David A. Hinds, Markus M. Nöthen, J. Brent Richards

Twist1 Suppresses Senescence Programs and Thereby Accelerates and Maintains Mutant Kras-Induced Lung Tumorigenesis

Phuoc T. Tran, Emelyn H. Shroff, Timothy F. Burns, Saravanan Thiyagarajan, Sandhya T. Das, Tahera Zabuawala, Joy Chen, Yoon-Jae Cho, Richard Luong, Pablo Tamayo, Tarek Salih, Khaled Aziz, Stacey J. Adam, Silvestre Vicent, Carsten H. Nielsen, Nadia Withofs, Alejandro Sweet-Cordero, Sanjiv S. Gambhir, Charles M. Rudin, Dean W. Felsher

KATNAL1 Regulation of Sertoli Cell Microtubule Dynamics Is Essential for Spermiogenesis and Male Fertility

Lee B. Smith, Laura Milne, Nancy Nelson, Sharon Eddie, Pamela Brown, Nina Atanassova, Moira K. O'Bryan, Liza O'Donnell, Danielle Rhodes, Sara Wells, Diane Napper, Patrick Nolan, Zuzanna Lalanne, Michael Cheeseman, Josephine Peters

An Essential Role for Katanin p80 and Microtubule Severing in Male Gamete Production

Liza O'Donnell, Danielle Rhodes, Stephanie J. Smith, D. Jo Merriner, Brett J. Clark, Claire Borg, Belinda Whittle, Anne E. O'Connor, Lee B. Smith, Francis J. McNally, David M. de Kretser, Chris C. Goodnow, Chris J. Ormandy, Duangporn Jamsai, Moira K. O'Bryan

A Duplication CNV That Conveys Traits Reciprocal to Metabolic Syndrome and Protects against Diet-Induced Obesity in Mice and Men

Melanie Lacaria, Pradip Saha, Lorraine Potocki, Weimin Bi, Jiong Yan, Santhosh Girirajan, Brooke Burns, Sarah Elsea, Katherina Walz, Lawrence Chan, James R. Lupski, Wenli Gu

abd-A Regulation by the iab-8 Noncoding RNA

Maheshwar Gummalla, Robert K. Maeda, Javier J. Castro Alvarez, Henrik Gyurkovics, Swetha Singari, Kevin A. Edwards, François Karch, Welcome Bender

TBC-8, a Putative RAB-2 GAP, Regulates Dense Core Vesicle Maturation in Caenorhabditis elegans

Mandy Hannemann, Nikhil Sasidharan, Jan Hegermann, Lena M. Kutscher, Sabine Koenig, Stefan Eimer

EMT Inducers Catalyze Malignant Transformation of Mammary Epithelial Cells and Drive Tumorigenesis towards Claudin-Low Tumors in Transgenic Mice

Anne-Pierre Morel, George W. Hinkal, Clémence Thomas, Frédérique Fauvet, Stéphanie Courtois-Cox, Anne Wierinckx, Mojgan Devouassoux-Shisheboran, Isabelle Treilleux, Agnès Tissier, Baptiste Gras, Julie Pourchet, Isabelle Puisieux, Gareth J. Browne, Douglas B. Spicer, Joël Lachuer, Stéphane Ansieau, Alain Puisieux

Regulating Repression: Roles for the Sir4 N-Terminus in Linker DNA Protection and Stabilization of Epigenetic States

Stephanie Kueng, Monika Tsai-Pflugfelder, Mariano Oppikofer, Helder C. Ferreira, Emma Roberts, Chinyen Tsai, Tim-Christoph Roloff, Ragna Sack, Susan M. Gasser

Separation of DNA Replication from the Assembly of Break-Competent Meiotic Chromosomes

Hannah G. Blitzblau, Clara S. Chan, Andreas Hochwagen, Stephen P. Bell

Genomic Hypomethylation in the Human Germline Associates with Selective Structural Mutability in the Human Genome

Jian Li, R. Alan Harris, Sau Wai Cheung, Cristian Coarfa, Mira Jeong, Margaret A. Goodell, Lisa D. White, Ankita Patel, Sung-Hae Kang, Chad Shaw, A. Craig Chinault, Tomasz Gambin, Anna Gambin, James R. Lupski, Aleksandar Milosavljevic

Collapse of Telomere Homeostasis in Hematopoietic Cells Caused by Heterozygous Mutations in Telomerase Genes

Geraldine Aubert, Gabriela M. Baerlocher, Irma Vulto, Steven S. Poon, Peter M. Lansdorp

Inactivation of a Novel FGF23 Regulator, FAM20C, Leads to Hypophosphatemic Rickets in Mice

Xiaofang Wang, Suzhen Wang, Changcheng Li, Tian Gao, Ying Liu, Afsaneh Rangiani, Yao Sun, Jianjun Hao, Anne George, Yongbo Lu, Jay Groppe, Baozhi Yuan, Jian Q. Feng, Chunlin Qin

DNA Demethylation and USF Regulate the Meiosis-Specific Expression of the Mouse Miwi

Yu Hou, Jia Yuan, Xiang Zhou, Xiazhou Fu, Hanhua Cheng, Rongjia Zhou

Psip1/Ledgf p52 Binds Methylated Histone H3K36 and Splicing Factors and Contributes to the Regulation of Alternative Splicing

Madapura M. Pradeepa, Heidi G. Sutherland, Jernej Ule, Graeme R. Grimes, Wendy A. Bickmore

Karyotypic Determinants of Chromosome Instability in Aneuploid Budding Yeast

Jin Zhu, Norman Pavelka, William D. Bradford, Giulia Rancati, Rong Li

Drosophila Activated Cdc42 Kinase Has an Anti-Apoptotic Function

Jessica A. Schoenherr, J. Michelle Drennan, Juan S. Martinez, Madhusudana Rao Chikka, Mark C. Hall, Henry C. Chang, James C. Clemens

Deletion of PTH Rescues Skeletal Abnormalities and High Osteopontin Levels in Klotho−/− Mice

Quan Yuan, Tadatoshi Sato, Michael Densmore, Hiroaki Saito, Christiane Schüler, Reinhold G. Erben, Beate Lanske

Target Gene Analysis by Microarrays and Chromatin Immunoprecipitation Identifies HEY Proteins as Highly Redundant bHLH Repressors

Julia Heisig, David Weber, Eva Englberger, Anja Winkler, Susanne Kneitz, Wing-Kin Sung, Elmar Wolf, Martin Eilers, Chia-Lin Wei, Manfred Gessler

Genome-Wide Copy Number Analysis Uncovers a New HSCR Gene: NRG3

Clara Sze-Man Tang, Guo Cheng, Man-Ting So, Benjamin Hon-Kei Yip, Xiao-Ping Miao, Emily Hoi-Man Wong, Elly Sau-Wai Ngan, Vincent Chi-Hang Lui, You-Qiang Song, Danny Chan, Kenneth Cheung, Zhen-Wei Yuan, Liu Lei, Patrick Ho-Yu Chung, Xue-Lai Liu, Kenneth Kak-Yuen Wong, Christian R. Marshall, Steve Scherer, Stacey S. Cherny, Pak-Chung Sham, Paul Kwong-Hang Tam, Maria-Mercè Garcia-Barceló

Congenital Heart Disease–Causing Gata4 Mutation Displays Functional Deficits In Vivo

Chaitali Misra, Nita Sachan, Caryn Rothrock McNally, Sara N. Koenig, Haley A. Nichols, Anuradha Guggilam, Pamela A. Lucchesi, William T. Pu, Deepak Srivastava, Vidu Garg

Histone H1 Depletion Impairs Embryonic Stem Cell Differentiation

Yunzhe Zhang, Marissa Cooke, Shiraj Panjwani, Kaixiang Cao, Beth Krauth, Po-Yi Ho, Magdalena Medrzycki, Dawit T. Berhe, Chenyi Pan, Todd C. McDevitt, Yuhong Fan

Genome-Wide Association for Abdominal Subcutaneous and Visceral Adipose Reveals a Novel Locus for Visceral Fat in Women

Caroline S. Fox, Yongmei Liu, Charles C. White, Mary Feitosa, Albert V. Smith, Nancy Heard-Costa, Kurt Lohman, Andrew D. Johnson, Meredith C. Foster, Danielle M. Greenawalt, Paula Griffin, Jinghong Ding, Anne B. Newman, Fran Tylavsky, Iva Miljkovic, Stephen B. Kritchevsky, Lenore Launer, Melissa Garcia, Gudny Eiriksdottir, J. Jeffrey Carr, Vilmunder Gudnason, Tamara B. Harris, L. Adrienne Cupples, Ingrid B. Borecki , GIANT Consortium, MAGIC Consortium, GLGC Consortium

Acquisition Order of Ras and p53 Gene Alterations Defines Distinct Adrenocortical Tumor Phenotypes

Maryline Herbet, Aude Salomon, Jean-Jacques Feige, Michaël Thomas

New Insight into the History of Domesticated Apple: Secondary Contribution of the European Wild Apple to the Genome of Cultivated Varieties

Amandine Cornille, Pierre Gladieux, Marinus J. M. Smulders, Isabel Roldán-Ruiz, François Laurens, Bruno Le Cam, Anush Nersesyan, Joanne Clavel, Marina Olonova, Laurence Feugey, Ivan Gabrielyan, Xiu-Guo Zhang, Maud I. Tenaillon, Tatiana Giraud

Extent, Causes, and Consequences of Small RNA Expression Variation in Human Adipose Tissue

Leopold Parts, Åsa K. Hedman, Sarah Keildson, Andrew J. Knights, Cei Abreu-Goodger, Martijn van de Bunt, José Afonso Guerra-Assunção, Nenad Bartonicek, Stijn van Dongen, Reedik Mägi, James Nisbet, Amy Barrett, Mattias Rantalainen, Alexandra C. Nica, Michael A. Quail, Kerrin S. Small, Daniel Glass, Anton J. Enright, John Winn, Panos Deloukas, Emmanouil T. Dermitzakis, Mark I. McCarthy, Timothy D. Spector, Richard Durbin, Cecilia M. Lindgren , MuTHER Consortium

Genome-Wide Association of Pericardial Fat Identifies a Unique Locus for Ectopic Fat

Caroline S. Fox, Charles C. White, Kurt Lohman, Nancy Heard-Costa, Paul Cohen, Yingying Zhang, Andrew D. Johnson, Valur Emilsson, Ching-Ti Liu, Y.-D. Ida Chen, Kent D. Taylor, Matthew Allison, Matthew Budoff, Jerome I. Rotter, J. Jeffrey Carr, Udo Hoffmann, Jingzhong Ding, L. Adrienne Cupples, Yongmei Liu , The CARDIoGRAM Consortium

Loss of Gnas Imprinting Differentially Affects REM/NREM Sleep and Cognition in Mice

Glenda Lassi, Simon T. Ball, Silvia Maggi, Giovanni Colonna, Thierry Nieus, Cheryl Cero, Alessandro Bartolomucci, Jo Peters, Valter Tucci

The Number of X Chromosomes Causes Sex Differences in Adiposity in Mice

Xuqi Chen, Rebecca McClusky, Jenny Chen, Simon W. Beaven, Peter Tontonoz, Arthur P. Arnold, Karen Reue

Prdm5 Regulates Collagen Gene Transcription by Association with RNA Polymerase II in Developing Bone

Giorgio Giacomo Galli, Kristian Honnens de Lichtenberg, Matteo Carrara, Wolfgang Hans, Manuela Wuelling, Bettina Mentz, Hinke Arnolda Multhaupt, Cathrine Kolster Fog, Klaus Thorleif Jensen, Juri Rappsilber, Andrea Vortkamp, Les Coulton, Helmut Fuchs, Valérie Gailus-Durner, Martin Hrabě de Angelis, Raffaele Adolfo Calogero, John Robert Couchman, Anders Henrik Lund

Common Genetic Determinants of Intraocular Pressure and Primary Open-Angle Glaucoma

Leonieke M. E. van Koolwijk, Wishal D. Ramdas, M. Kamran Ikram, Nomdo M. Jansonius, Francesca Pasutto, Pirro G. Hysi, Stuart Macgregor, Sarah F. Janssen, Alex W. Hewitt, Ananth C. Viswanathan, Jacoline B. ten Brink, S. Mohsen Hosseini, Najaf Amin, Dominiek D. G. Despriet, Jacqueline J. M. Willemse-Assink, Rogier Kramer, Fernando Rivadeneira, Maksim Struchalin, Yurii S. Aulchenko, Nicole Weisschuh, Matthias Zenkel, Christian Y. Mardin, Eugen Gramer, Ulrich Welge-Lüssen, Grant W. Montgomery, Francis Carbonaro, Terri L. Young, Céline Bellenguez, Peter McGuffin, Paul J. Foster, Fotis Topouzis, Paul Mitchell, Jie Jin Wang, Tien Y. Wong, Monika A. Czudowska, Albert Hofman, Andre G. Uitterlinden, Roger C. W. Wolfs, Paulus T. V. M. de Jong, Ben A. Oostra, Andrew D. Paterson, David A. Mackey, Arthur A. B. Bergen, André Reis, Christopher J. Hammond, Johannes R. Vingerling, Hans G. Lemij, Caroline C. W. Klaver, Cornelia M. van Duijn , The DCCT/EDIC Research Group, Wellcome Trust Case Control Consortium 2

The C. elegans H3K27 Demethylase UTX-1 Is Essential for Normal Development, Independent of Its Enzymatic Activity

Julien Vandamme, Gaëlle Lettier, Simone Sidoli, Elia Di Schiavi, Ole Nørregaard Jensen, Anna Elisabetta Salcini

Dynamic Deposition of Histone Variant H3.3 Accompanies Developmental Remodeling of the Arabidopsis Transcriptome

Heike Wollmann, Sarah Holec, Keith Alden, Neil D. Clarke, Pierre-Étienne Jacques, Frédéric Berger

Downregulation of Chloroplast RPS1 Negatively Modulates Nuclear Heat-Responsive Expression of HsfA2 and Its Target Genes in Arabidopsis

Hai-Dong Yu, Xiao-Fei Yang, Si-Ting Chen, Yu-Ting Wang, Ji-Kai Li, Qi Shen, Xun-Liang Liu, Fang-Qing Guo

Principles of Carbon Catabolite Repression in the Rice Blast Fungus: Tps1, Nmr1-3, and a MATE–Family Pump Regulate Glucose Metabolism during Infection

Jessie Fernandez, Janet D. Wright, David Hartline, Cristian F. Quispe, Nandakumar Madayiputhiya, Richard A. Wilson

LINT, a Novel dL(3)mbt-Containing Complex, Represses Malignant Brain Tumour Signature Genes

Karin Meier, Eve-Lyne Mathieu, Florian Finkernagel, L. Maximilian Reuter, Maren Scharfe, Gunther Doehlemann, Michael Jarek, Alexander Brehm

MicroRNA-277 Modulates the Neurodegeneration Caused by Fragile X Premutation rCGG Repeats

Huiping Tan, Mickael Poidevin, He Li, Dahua Chen, Peng Jin

Using Whole-Genome Sequence Data to Predict Quantitative Trait Phenotypes in Drosophila melanogaster

Ulrike Ober, Julien F. Ayroles, Eric A. Stone, Stephen Richards, Dianhui Zhu, Richard A. Gibbs, Christian Stricker, Daniel Gianola, Martin Schlather, Trudy F. C. Mackay, Henner Simianer

YY1 Regulates Melanocyte Development and Function by Cooperating with MITF

Juying Li, Jun S. Song, Robert J. A. Bell, Thanh-Nga T. Tran, Rizwan Haq, Huifei Liu, Kevin T. Love, Robert Langer, Daniel G. Anderson, Lionel Larue, David E. Fisher

IDN2 and Its Paralogs Form a Complex Required for RNA–Directed DNA Methylation

Cui-Jun Zhang, Yong-Qiang Ning, Su-Wei Zhang, Qing Chen, Chang-Rong Shao, Yan-Wu Guo, Jin-Xing Zhou, Lin Li, She Chen, Xin-Jian He