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Table of Contents | February 2009

About This Image

Rhodopsin endocytosis in the compound eye of Drosophila melanogaster.

Pictured is the top-down, confocal view of the Drosophila eye. Visual transduction is initiated upon absorption of light by the protein rhodopsin (green) and occurs in the actin-rich microvillar structure, the rhabdomere (stained for actin, shown in magenta). Light stimulation also results in internalization of rhodopsin by endocytosis. The image shows endocytosis of rhodopsin from the rhabdomeres into the cell body. Work in this issue of PLoS Genetics (see Chinchore et al., doi:10.1371/journal.pgen.1000377) demonstrates that degradation of internalized rhodopsin in a timely manner is essential for maintaining photoreceptor viability.

Image Credit: Yashodhan Chinchore and Patrick Dolph (Dartmouth College).

 
 

Perspectives

Conservation and Convergence of Colour Genetics: MC1R Mutations in brown Cavefish

Nicholas I. Mundy

When Segregation Hangs by a Thread

Giovanni Bosco

 

Review

Interpretation of Genetic Association Studies: Markers with Replicated Highly Significant Odds Ratios May Be Poor Classifiers

Johanna Jakobsdottir, Michael B. Gorin, Yvette P. Conley, Robert E. Ferrell, Daniel E. Weeks

 

Research Articles

Gene Dosage Effects of the Imprinted Delta-Like Homologue 1 (Dlk1/Pref1) in Development: Implications for the Evolution of Imprinting

Simao Teixeira da Rocha, Marika Charalambous, Shau-Ping Lin, Isabel Gutteridge, Yoko Ito, Dionne Gray, Wendy Dean, Anne C. Ferguson-Smith

Author Summary

Mutation of the Mouse Syce1 Gene Disrupts Synapsis and Suggests a Link between Synaptonemal Complex Structural Components and DNA Repair

Ewelina Bolcun-Filas, Robert Speed, Mary Taggart, Corinne Grey, Bernard de Massy, Ricardo Benavente, Howard J. Cooke

Author Summary

Formal Correction:

  1. Correction to Author List (More...)

The D4Z4 Macrosatellite Repeat Acts as a CTCF and A-Type Lamins-Dependent Insulator in Facio-Scapulo-Humeral Dystrophy

Alexandre Ottaviani, Sylvie Rival-Gervier, Amina Boussouar, Andrea M. Foerster, Delphine Rondier, Sabrina Sacconi, Claude Desnuelle, Eric Gilson, Frédérique Magdinier

Author Summary

Chordin Is a Modifier of Tbx1 for the Craniofacial Malformations of 22q11 Deletion Syndrome Phenotypes in Mouse

Murim Choi, John Klingensmith

Author Summary

A Systems Approach Reveals Regulatory Circuitry for Arabidopsis Trichome Initiation by the GL3 and GL1 Selectors

Kengo Morohashi, Erich Grotewold

Author Summary

Ploidy Reductions in Murine Fusion-Derived Hepatocytes

Andrew W. Duncan, Raymond D. Hickey, Nicole K. Paulk, Andrew J. Culberson, Susan B. Olson, Milton J. Finegold, Markus Grompe

Author Summary

The Pattern of R2 Retrotransposon Activity in Natural Populations of Drosophila simulans Reflects the Dynamic Nature of the rDNA Locus

Jun Zhou, Thomas H. Eickbush

Author Summary

Poly (ADP-Ribose) Polymerase 1 Is Required for Protein Localization to Cajal Body

Elena Kotova, Michael Jarnik, Alexei V. Tulin

Author Summary

Altered Hematopoiesis in Mice Lacking DNA Polymerase μ Is Due to Inefficient Double-Strand Break Repair

Daniel Lucas, Beatriz Escudero, José Manuel Ligos, Jose Carlos Segovia, Juan Camilo Estrada, Gloria Terrados, Luis Blanco, Enrique Samper, Antonio Bernad

Author Summary

Turnover of Sex Chromosomes in the Stickleback Fishes (Gasterosteidae)

Joseph A. Ross, James R. Urton, Jessica Boland, Michael D. Shapiro, Catherine L. Peichel

Author Summary

A Drosophila Model for EGFR-Ras and PI3K-Dependent Human Glioma

Renee D. Read, Webster K. Cavenee, Frank B. Furnari, John B. Thomas

Author Summary

The Individual Blood Cell Telomere Attrition Rate Is Telomere Length Dependent

Katarina Nordfjäll, Ulrika Svenson, Karl-Fredrik Norrback, Rolf Adolfsson, Per Lenner, Göran Roos

Author Summary

Attenuation of Zinc Finger Nuclease Toxicity by Small-Molecule Regulation of Protein Levels

Shondra M. Pruett-Miller, David W. Reading, Shaina N. Porter, Matthew H. Porteus

Author Summary

Accumulation of Rhodopsin in Late Endosomes Triggers Photoreceptor Cell Degeneration

Yashodhan Chinchore, Amitavo Mitra, Patrick J. Dolph

Author Summary

Identification of a Shared Genetic Susceptibility Locus for Coronary Heart Disease and Periodontitis

Arne S. Schaefer, Gesa M. Richter, Birte Groessner-Schreiber, Barbara Noack, Michael Nothnagel, Nour-Eddine El Mokhtari, Bruno G. Loos, Søren Jepsen, Stefan Schreiber

Author Summary

Steroid Hormone Control of Cell Death and Cell Survival: Molecular Insights Using RNAi

Suganthi Chittaranjan, Melissa McConechy, Ying-Chen Claire Hou, J. Douglas Freeman, Lindsay DeVorkin, Sharon M. Gorski

Author Summary

ERCC1/XPF Protects Short Telomeres from Homologous Recombination in Arabidopsis thaliana

Jean-Baptiste Vannier, Annie Depeiges, Charles White, Maria Eugenia Gallego

Author Summary

Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females

Christel Depienne, Delphine Bouteiller, Boris Keren, Emmanuel Cheuret, Karine Poirier, Oriane Trouillard, Baya Benyahia, Chloé Quelin, Wassila Carpentier, Sophie Julia, Alexandra Afenjar, Agnès Gautier, François Rivier, Sophie Meyer, Patrick Berquin, Marie Hélias, Isabelle Py, Serge Rivera, Nadia Bahi-Buisson, Isabelle Gourfinkel-An, Cécile Cazeneuve, Merle Ruberg, Alexis Brice, Rima Nabbout, Eric LeGuern

Author Summary

Formal Correction:

  1. Correction to Author Affiliations (More...)

Disease-Associated Mutant Ubiquitin Causes Proteasomal Impairment and Enhances the Toxicity of Protein Aggregates

Elizabeth M. H. Tank, Heather L. True

Author Summary

HECTD2 Is Associated with Susceptibility to Mouse and Human Prion Disease

Sarah E. Lloyd, Emma G. Maytham, Hirva Pota, Julia Grizenkova, Eleni Molou, James Uphill, Holger Hummerich, Jerome Whitfield, Michael P. Alpers, Simon Mead, John Collinge

Author Summary

A Groupwise Association Test for Rare Mutations Using a Weighted Sum Statistic

Bo Eskerod Madsen, Sharon R. Browning

Author Summary

Deletion of the Mitochondrial Superoxide Dismutase sod-2 Extends Lifespan in Caenorhabditis elegans

Jeremy M. Van Raamsdonk, Siegfried Hekimi

Author Summary

Adaptations to Submarine Hydrothermal Environments Exemplified by the Genome of Nautilia profundicola

Barbara J. Campbell, Julie L. Smith, Thomas E. Hanson, Martin G. Klotz, Lisa Y. Stein, Charles K. Lee, Dongying Wu, Jeffrey M. Robinson, Hoda M. Khouri, Jonathan A. Eisen, S. Craig Cary

Author Summary

hnRNP I Inhibits Notch Signaling and Regulates Intestinal Epithelial Homeostasis in the Zebrafish

Jing Yang, Chin Yee Chan, Bo Jiang, Xueyuan Yu, Guo-Zhang Zhu, Yiping Chen, John Barnard, Wenyan Mei

Author Summary

Genome-Wide Analysis of Factors Affecting Transcription Elongation and DNA Repair: A New Role for PAF and Ccr4-Not in Transcription-Coupled Repair

Hélène Gaillard, Cristina Tous, Javier Botet, Cristina González-Aguilera, Maria José Quintero, Laia Viladevall, María L. García-Rubio, Alfonso Rodríguez-Gil, Antonio Marín, Joaquín Ariño, José Luis Revuelta, Sebastián Chávez, Andrés Aguilera

Author Summary

Genome-Wide Association Studies in an Isolated Founder Population from the Pacific Island of Kosrae

Jennifer K. Lowe, Julian B. Maller, Itsik Pe'er, Benjamin M. Neale, Jacqueline Salit, Eimear E. Kenny, Jessica L. Shea, Ralph Burkhardt, J. Gustav Smith, Weizhen Ji, Martha Noel, Jia Nee Foo, Maude L. Blundell, Vita Skilling, Laura Garcia, Marcia L. Sullivan, Heather E. Lee, Anna Labek, Hope Ferdowsian, Steven B. Auerbach, Richard P. Lifton, Christopher Newton-Cheh, Jan L. Breslow, Markus Stoffel, Mark J. Daly, David M. Altshuler, Jeffrey M. Friedman

Author Summary

A Gene-Based Linkage Map for Bicyclus anynana Butterflies Allows for a Comprehensive Analysis of Synteny with the Lepidopteran Reference Genome

Patrícia Beldade, Suzanne V. Saenko, Nicolien Pul, Anthony D. Long

Author Summary

Genetic Mechanisms in Apc-Mediated Mammary Tumorigenesis

Mari Kuraguchi, Nana Yaw Ohene-Baah, Dmitriy Sonkin, Roderick Terry Bronson, Raju Kucherlapati

Author Summary

Adaptive Mutations in the JC Virus Protein Capsid Are Associated with Progressive Multifocal Leukoencephalopathy (PML)

Shamil R. Sunyaev, Alexey Lugovskoy, Kenneth Simon, Leonid Gorelik

Author Summary

Expression of the Multiple Sclerosis-Associated MHC Class II Allele HLA-DRB1*1501 Is Regulated by Vitamin D

Sreeram V. Ramagopalan, Narelle J. Maugeri, Lahiru Handunnetthi, Matthew R. Lincoln, Sarah-Michelle Orton, David A. Dyment, Gabriele C. DeLuca, Blanca M. Herrera, Michael J. Chao, A. Dessa Sadovnick, George C. Ebers, Julian C. Knight

Author Summary

Loss of Myotubularin Function Results in T-Tubule Disorganization in Zebrafish and Human Myotubular Myopathy

James J. Dowling, Andrew P. Vreede, Sean E. Low, Elizabeth M. Gibbs, John Y. Kuwada, Carsten G. Bonnemann, Eva L. Feldman

Author Summary

A Genome-Wide Investigation of SNPs and CNVs in Schizophrenia

Anna C. Need, Dongliang Ge, Michael E. Weale, Jessica Maia, Sheng Feng, Erin L. Heinzen, Kevin V. Shianna, Woohyun Yoon, Dalia Kasperavičiūtė, Massimo Gennarelli, Warren J. Strittmatter, Cristian Bonvicini, Giuseppe Rossi, Karu Jayathilake, Philip A. Cola, Joseph P. McEvoy, Richard S. E. Keefe, Elizabeth M. C. Fisher, Pamela L. St. Jean, Ina Giegling, Annette M. Hartmann, Hans-Jürgen Möller, Andreas Ruppert, Gillian Fraser, Caroline Crombie, Lefkos T. Middleton, David St. Clair, Allen D. Roses, Pierandrea Muglia, Clyde Francks, Dan Rujescu, Herbert Y. Meltzer, David B. Goldstein

Author Summary

Formal Correction:

  1. Correction to Competing Interests (More...)

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