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| |  | TABLE OF CONTENTS
| May 2012 Volume 44, Issue 5 |  | | |  |  Editorial
Correspondence
News and Views
Research Highlights
Analysis
Articles
Letters
Technical Report
Corrigendum
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Advertisement | | The EMBO Meeting 2012
22-25 September in Nice, France
Keynotes: Paul Nurse & Linda Partridge
20 concurrent sessions covering the life sciences
Speakers include: Kari Alitalo, Karl Deisseroth, Steven Henikoff, Ruth Lehmann, Dirk Schübeler & Rob Singer
Abstract submission & early registration: 12 June 2012 www.the-embo-meeting.org | 
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| | | | | Advertisement | | Nature Genetics and the Wellcome Trust present:
The Genomics of Common Diseases 2012
September 19-22, 2012 - Potomac, MD, USA For more information and to register, visit: www.nature.com/natureconferences/gcd2012  |
| | | | Editorial |  Top | |  | | Testing times p473
doi:10.1038/ng.2264
Belief in the value of DNA sequence led to investment in the technology that made the Human Genome Project possible. But DNA sequences are not in themselves inventions, and gene variants and the conditions in which they cause disease are discovered and held by many stakeholders. So, if patents are to continue to provide incentives of benefit from genomics, they must be licensed for competition that is not a zero-sum game.
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| | Correspondence | Top | | | | Germline RAD51C mutations confer susceptibility to ovarian cancer pp475 - 476
Chey Loveday, Clare Turnbull, Elise Ruark, Rosa Maria Munoz Xicola, Emma Ramsay, Deborah Hughes, Margaret Warren-Perry, Katie Snape, Breast Cancer Susceptibility Collaboration (BCSC) (UK), Diana Eccles, D Gareth Evans, Martin Gore, Anthony Renwick, Sheila Seal, Antonis C Antoniou and Nazneen Rahman
doi:10.1038/ng.2224
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| | | | Germline RAD51C mutations confer susceptibility to ovarian cancer p476
Alfons Meindl, Katharina Eirich, Stefanie Engert, Alexandra Becker, Daniela Endt, Nina Ditsch, Rita K Schmutzler and Detlev Schindler
doi:10.1038/ng.2223
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| | News and Views | Top | | | | | | Analysis | Top | | | | Bayesian inference analyses of the polygenic architecture of rheumatoid arthritis pp483 - 489
Eli A Stahl, Daniel Wegmann, Gosia Trynka, Javier Gutierrez-Achury, Ron Do, Benjamin F Voight, Peter Kraft, Robert Chen, Henrik J Kallberg, Fina A S Kurreeman, Diabetes Genetics Replication and Meta-analysis Consortium, Myocardial Infarction Genetics Consortium, Sekar Kathiresan, Cisca Wijmenga, Peter K Gregersen, Lars Alfredsson, Katherine A Siminovitch, Jane Worthington, Paul I W de Bakker, Soumya Raychaudhuri and Robert M Plenge
doi:10.1038/ng.2232
Eli Stahl, Robert Plenge and colleagues report the application of a polygenic analysis, using a Bayesian inference framework, to rheumatoid arthritis GWAS datasets. They find that polygenic risk scores are associated with rheumatoid arthritis case-control status and estimate the total variance explained by common variants in these GWAS. They show comparable estimates for applications to GWAS for celiac disease, myocardial infarction and coronary artery disease and type 2 diabetes.
Abstract | Full Text | PDF
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| | | | Articles | Top | | | | Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture pp491 - 501
Karol Estrada, Unnur Styrkarsdottir, Evangelos Evangelou, Yi-Hsiang Hsu, Emma L Duncan, Evangelia E Ntzani, Ling Oei, Omar M E Albagha, Najaf Amin, John P Kemp, Daniel L Koller, Guo Li, Ching-Ti Liu, Ryan L Minster, Alireza Moayyeri, Liesbeth Vandenput, Dana Willner, Su-Mei Xiao, Laura M Yerges-Armstrong, Hou-Feng Zheng, Nerea Alonso, Joel Eriksson, Candace M Kammerer, Stephen K Kaptoge, Paul J Leo, Gudmar Thorleifsson, Scott G Wilson, James F Wilson, Ville Aalto, Markku Alen, Aaron K Aragaki, Thor Aspelund, Jacqueline R Center, Zoe Dailiana, David J Duggan, Melissa Garcia, Natalia Garcia-Giralt, Sylvie Giroux, Göran Hallmans, Lynne J Hocking, Lise Bjerre Husted, Karen A Jameson, Rita Khusainova, Ghi Su Kim, Charles Kooperberg, Theodora Koromila, Marcin Kruk, Marika Laaksonen, Andrea Z Lacroix, Seung Hun Lee, Ping C Leung, Joshua R Lewis, Laura Masi, Simona Mencej-Bedrac, Tuan V Nguyen, Xavier Nogues, Millan S Patel, Janez Prezelj, Lynda M Rose, Serena Scollen, Kristin Siggeirsdottir, Albert V Smith, Olle Svensson, Stella Trompet, Olivia Trummer, Natasja M van Schoor, Jean Woo, Kun Zhu, Susana Balcells, Maria Luisa Brandi, Brendan M Buckley, Sulin Cheng, Claus Christiansen, Cyrus Cooper, George Dedoussis, Ian Ford, Morten Frost, David Goltzman, Jesús González-Macías, Mika Kähönen, Magnus Karlsson, Elza Khusnutdinova, Jung-Min Koh, Panagoula Kollia, Bente Lomholt Langdahl, William D Leslie, Paul Lips, Östen Ljunggren, Roman S Lorenc, Janja Marc, Dan Mellström, Barbara Obermayer-Pietsch, José M Olmos, Ulrika Pettersson-Kymmer, David M Reid, José A Riancho, Paul M Ridker, François Rousseau, P Eline S lagboom, Nelson L S Tang, Roser Urreizti, Wim Van Hul, Jorma Viikari, María T Zarrabeitia, Yurii S Aulchenko, Martha Castano-Betancourt, Elin Grundberg, Lizbeth Herrera, Thorvaldur Ingvarsson, Hrefna Johannsdottir, Tony Kwan, Rui Li, Robert Luben, Carolina Medina-Gómez, Stefan Th Palsson, Sjur Reppe, Jerome I Rotter, Gunnar Sigurdsson, Joyce B J van Meurs, Dominique Verlaan, Frances M K Williams, Andrew R Wood, Yanhua Zhou, Kaare M Gautvik, Tomi Pastinen, Soumya Raychaudhuri, Jane A Cauley, Daniel I Chasman, Graeme R Clark, Steven R Cummings, Patrick Danoy, Elaine M Dennison, Richard Eastell, John A Eisman, Vilmundur Gudnason, Albert Hofman, Rebecca D Jackson, Graeme Jones, J Wouter Jukema, Kay-Tee Khaw, Terho Lehtimäki, Yongmei Liu, Mattias Lorentzon, Eugene McCloskey, Braxton D Mitchell, Kannabiran Nandakumar, Geoffrey C Nicholson, Ben A Oostra, Munro Peacock, Huibert A P Pols, Richard L Prince, Olli Raitakari, Ian R Reid, John Robbins, Philip N Sambrook, Pak Chung Sham, Alan R Shuldiner, Frances A Tylavsky, Cornelia M van Duijn, Nick J Wareham, L Adrienne Cupples, Michael J Econs, David M Evans, Tamara B Harris, Annie Wai Chee Kung, Bruce M Psaty, Jonathan Reeve, Timothy D Spector, Elizabeth A Streeten, M Carola Zillikens, Unnur Thorsteinsdottir, Claes Ohlsson, David Karasik, J Brent Richards, Matthew A Brown, Kari Stefansson, André G Uitterlinden, Stuart H Ralston, John P A Ioannidis, Douglas P Kiel and Fernando Rivadeneira
doi:10.1038/ng.2249
Fernando Rivadeneira and colleagues in the Genetic Factors for Osteoporosis Consortium report a large-scale meta-analysis identifying new loci associated with bone mineral density (BMD) and risk of fracture. Thirty-two new loci are found to be associated with BMD, and 6 loci confer higher risk for low-trauma bone fracture.
Abstract | Full Text | PDF
| | | | Genetics of gene expression in primary immune cells identifies cell type-specific master regulators and roles of HLA alleles pp502 - 510
Benjamin P Fairfax, Seiko Makino, Jayachandran Radhakrishnan, Katharine Plant, Stephen Leslie, Alexander Dilthey, Peter Ellis, Cordelia Langford, Fredrik O Vannberg and Julian C Knight
doi:10.1038/ng.2205
Expression quantitative trait loci (eQTLs) are the genetic units of gene expression variation. Julian Knight and colleagues report an analysis of cell type-specific eQTLs from positively purified primary monocytes and B cells. Among the trans-acting eQTLs identified, they report new master regulators of gene expression, as well as autoimmune disease associations to specific HLA alleles.
Abstract | Full Text | PDF
See also: News and Views by Gregersen
| | Letters | Top | | | | Meta-analysis identifies nine new loci associated with rheumatoid arthritis in the Japanese population pp511 - 516
Yukinori Okada, Chikashi Terao, Katsunori Ikari, Yuta Kochi, Koichiro Ohmura, Akari Suzuki, Takahisa Kawaguchi, Eli A Stahl, Fina A S Kurreeman, Nao Nishida, Hiroko Ohmiya, Keiko Myouzen, Meiko Takahashi, Tetsuji Sawada, Yuichi Nishioka, Masao Yukioka, Tsukasa Matsubara, Shigeyuki Wakitani, Ryota Teshima, Shigeto Tohma, Kiyoshi Takasugi, Kota Shimada, Akira Murasawa, Shigeru Honjo, Keitaro Matsuo, Hideo Tanaka, Kazuo Tajima, Taku Suzuki, Takuji Iwamoto, Yoshiya Kawamura, Hisashi Tanii, Yuji Okazaki, Tsukasa Sasaki, Peter K Gregersen, Leonid Padyukov, Jane Worthington, Katherine A Siminovitch, Mark Lathrop, Atsuo Taniguchi, Atsushi Takahashi, Katsushi Tokunaga, Michiaki Kubo, Yusuke Nakamura, Naoyuki Kamatani, Tsuneyo Mimori, Robert M Plenge, Hisashi Yamanaka, Shigeki Momohara, Ryo Yamada, Fumihiko Matsuda and Kazuhiko Yamamoto
doi:10.1038/ng.2231
Yuta Kochi and colleagues report a meta-analysis of genome-wide association studies for rheumatoid arthritis in a Japanese population. They identify nine loci newly associated with rheumatoid arthritis in this population and consider overlap of associations with previous studies in European populations.
First paragraph | Full Text | PDF
| | | | A genome-wide association study identifies three new risk loci for Kawasaki disease pp517 - 521
Yoshihiro Onouchi, Kouichi Ozaki, Jane C Burns, Chisato Shimizu, Masaru Terai, Hiromichi Hamada, Takafumi Honda, Hiroyuki Suzuki, Tomohiro Suenaga, Takashi Takeuchi, Norishige Yoshikawa, Yoichi Suzuki, Kumi Yasukawa, Ryota Ebata, Kouji Higashi, Tsutomu Saji, Yasushi Kemmotsu, Shinichi Takatsuki, Kazunobu Ouchi, Fumio Kishi, Tetsushi Yoshikawa, Toshiro Nagai, Kunihiro Hamamoto, Yoshitake Sato, Akihito Honda, Hironobu Kobayashi, Junichi Sato, Shoichi Shibuta, Masakazu Miyawaki, Ko Oishi, Hironobu Yamaga, Noriyuki Aoyagi, Seiji Iwahashi, Ritsuko Miyashita, Yuji Murata, Kumiko Sasago, Atsushi Takahashi, Naoyuki Kamatani, Michiaki Kubo, Tatsuhiko Tsunoda, Akira Hata, Yusuke Nakamura, Toshihiro Tanaka, Japan Kawasaki Disease Genome Consortium and US Kawasaki Disease Genetics Consortium
doi:10.1038/ng.2220
Yoshihiro Onouchi and colleagues report the results of a genome-wide association study of Kawasaki disease. They identify three new risk loci, all mapping near genes previously implicated in adult-onset autoimmune diseases.
First paragraph | Full Text | PDF
| | | | Two new susceptibility loci for Kawasaki disease identified through genome-wide association analysis pp522 - 525
Yi-Ching Lee, Ho-Chang Kuo, Jeng-Sheng Chang, Luan-Yin Chang, Li-Min Huang, Ming-Ren Chen, Chi-Di Liang, Hsin Chi, Fu-Yuan Huang, Meng-Luen Lee, Yhu-Chering Huang, Betau Hwang, Nan-Chang Chiu, Kao-Pin Hwang, Pi-Chang Lee, Li-Ching Chang, Yi-Min Liu, Ying-Ju Chen, Chien-Hsiun Chen, Taiwan Pediatric ID Alliance, Yuan-Tsong Chen, Fuu-Jen Tsai and Jer-Yuarn Wu
doi:10.1038/ng.2227
Jer-Yuarn Wu, Fuu-Jen Tsai, Yuan-Tsong Chen and colleagues report a genome-wide association study of Kawasaki disease. They show that common variants near BLK and CD40 influence susceptibility to this acute childhood vasculitis.
First paragraph | Full Text | PDF
| | | | A genome-wide association meta-analysis identifies new childhood obesity loci pp526 - 531
Jonathan P Bradfield, H Rob Taal, Nicholas J Timpson, André Scherag, Cecile Lecoeur, Nicole M Warrington, Elina Hypponen, Claus Holst, Beatriz Valcarcel, Elisabeth Thiering, Rany M Salem, Fredrick R Schumacher, Diana L Cousminer, Patrick M A Sleiman, Jianhua Zhao, Robert I Berkowitz, Karani S Vimaleswaran, Ivonne Jarick, Craig E Pennell, David M Evans, Beate St Pourcain, Diane J Berry, Dennis O Mook-Kanamori, Albert Hofman, Fernando Rivadeneira, André G Uitterlinden, Cornelia M van Duijn, Ralf J P van der Valk, Johan C de Jongste, Dirkje S Postma, Dorret I Boomsma, W James Gauderman, Mohamed T Hassanein, Cecilia M Lindgren, Reedik Mägi, Colin A G Boreham, Charlotte E Neville, Luis A Moreno, Paul Elliott, Anneli Pouta, Anna-Liisa Hartikainen, Mingyao Li, Olli Raitakari, Terho Lehtimäki, Johan G Eriksson, Aarno Palotie, Jean Dallongeville, Shikta Das, Panos Deloukas, George McMahon, Susan M Ring, John P Kemp, Jessica L Buxton, Alexandra I F Blakemore, Mariona Bustamante, Mònica Guxens, Joel N Hirschhorn, Matthew W Gillman, Eskil Kreiner-Møller, Hans Bisgaard, Frank D Gilliland, Joachim Heinrich, Eleanor Wheeler, Inês Barroso, Stephen O'Rahilly, Aline Meirhaeghe, Thorkild I A Sorensen, Chris Power, Lyle J Palmer, Anke Hinney, Elisabeth Widen, I Sadaf Farooqi, Mark I McCarthy, Philippe Froguel, David Meyre, Johannes Hebebrand, Marjo-Riitta Jarvelin, Vincent W V Jaddoe, George Davey Smith, Hakon Hakonarson and Struan F A Grant for the Early Growth Genetics (EGG) Consortium
doi:10.1038/ng.2247
Struan Grant and colleagues perform a meta-analysis of genome-wide association studies to identify loci influencing childhood obesity. They discover variants near OLFM4 and HOXB5 associated with this trait and show that these loci are also associated with increased body mass index in adults.
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| | | | Common variants at 12q15 and 12q24 are associated with infant head circumference pp532 - 538
H Rob Taal, Beate St Pourcain, Elisabeth Thiering, Shikta Das, Dennis O Mook-Kanamori, Nicole M Warrington, Marika Kaakinen, Eskil Kreiner-Møller, Jonathan P Bradfield, Rachel M Freathy, Frank Geller, Mònica Guxens, Diana L Cousminer, Marjan Kerkhof, Nicholas J Timpson, M Arfan Ikram, Lawrence J Beilin, Klaus Bønnelykke, Jessica L Buxton, Pimphen Charoen, Bo Lund Krogsgaard Chawes, Johan Eriksson, David M Evans, Albert Hofman, John P Kemp, Cecilia E Kim, Norman Klopp, Jari Lahti, Stephen J Lye, George McMahon, Frank D Mentch, Martina Müller-Nurasyid, Paul F O'Reilly, Inga Prokopenko, Fernando Rivadeneira, Eric A P Steegers, Jordi Sunyer, Carla Tiesler, Hanieh Yaghootkar, The Cohorts for Heart and Aging Research in Genetic Epidemiology (CHARGE) Consortium, Monique M B Breteler, Stéphanie Debette, Myriam Fornage, Vilmundur Gudnason, Lenore J Launer, Aad van der Lugt, Thomas H Mosley Jr, Sudha Seshadri, Albert V Smith, Meike W Vernooij, Early Genetics & Lifecourse Epidemiology (EAGLE) Consortium, Alexandra I F Blakemore, Rosetta M Chiavacci, Bjarke Feenstra, Julio Fernandez-Banet, Struan F A Grant, Anna-Liisa Hartikainen, Albert J van der Heijden, Carmen Iñiguez, Mark Lathrop, Wendy L McArdle, Anne Mølgaard, John P Newnham, Lyle J Palmer, Aarno Palotie, Annneli Pouta, Susan M Ring, Ulla Sovio, Marie Standl, Andre G Uitterlinden, H-Erich Wichmann, Nadja Hawwa Vissing, Charles DeCarli, Cornelia M van Duijn, Mark I McCarthy, Gerard H Koppelman, Xavier Estivill, Andrew T Hattersley, Mads Melbye, Hans Bisgaard, Craig E Pennell, Elisabeth Widen, Hakon Hakonarson, George Davey Smith, Joachim Heinrich, Marjo-Riitta Jarvelin, Vincent W V Jaddoe and Early Growth Genetics (EGG) Consortium
doi:10.1038/ng.2238
Vincent Jaddoe and colleagues report a genome-wide association study for infant head circumference. They identify variants in SBNO1 and near HMGA2 that are associated with this phenotype.
First paragraph | Full Text | PDF
| | | | Common variants at 6q22 and 17q21 are associated with intracranial volume pp539 - 544
M Arfan Ikram, Myriam Fornage, Albert V Smith, Sudha Seshadri, Reinhold Schmidt, Stephanie Debette, Henri A Vrooman, Sigurdur Sigurdsson, Stefan Ropele, H Rob Taal, Dennis O Mook-Kanamori, Laura H Coker, W T Longstreth Jr, Wiro J Niessen, Anita L DeStefano, Alexa Beiser, Alex P Zijdenbos, Maksim Struchalin, Clifford R Jack Jr, Fernando Rivadeneira, Andre G Uitterlinden, David S Knopman, Anna-Liisa Hartikainen, Craig E Pennell, Elisabeth Thiering, Eric A P Steegers, Hakon Hakonarson, Joachim Heinrich, Lyle J Palmer, Marjo-Riitta Jarvelin, Mark I McCarthy, Struan F A Grant, Beate St Pourcain, Nicholas J Timpson, George Davey Smith, Ulla Sovio, Mike A Nalls, Rhoda Au, Albert Hofman, Haukur Gudnason, Aad van der Lugt, Tamara B Harris, William M Meeks, Meike W Vernooij, Mark A van Buchem, Diane Catellier, Vincent W V Jaddoe, Vilmundur Gudnason, B Gwen Windham, Philip A Wolf, Cornelia M van Duijn, Thomas H Mosley Jr, Helena Schmidt, Lenore J Launer, Monique M B Breteler and Charles DeCarli for the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium and Early Growth Genetics (EGG) Consortium
doi:10.1038/ng.2245
M. Arfan Ikram and colleagues report a genome-wide association study for intracranial volume and brain volume. They report two loci associated with intracranial volume.
First paragraph | Full Text | PDF
| | | | Common variants at 12q14 and 12q24 are associated with hippocampal volume pp545 - 551
Joshua C Bis, Charles DeCarli, Albert Vernon Smith, Fedde van der Lijn, Fabrice Crivello, Myriam Fornage, Stephanie Debette, Joshua M Shulman, Helena Schmidt, Velandai Srikanth, Maaike Schuur, Lei Yu, Seung-Hoan Choi, Sigurdur Sigurdsson, Benjamin F J Verhaaren, Anita L DeStefano, Jean-Charles Lambert, Clifford R Jack Jr, Maksim Struchalin, Jim Stankovich, Carla A Ibrahim-Verbaas, Debra Fleischman, Alex Zijdenbos, Tom den Heijer, Bernard Mazoyer, Laura H Coker, Christian Enzinger, Patrick Danoy, Najaf Amin, Konstantinos Arfanakis, Mark A van Buchem, Renée F A G de Bruijn, Alexa Beiser, Carole Dufouil, Juebin Huang, Margherita Cavalieri, Russell Thomson, Wiro J Niessen, Lori B Chibnik, Gauti K Gislason, Albert Hofman, Aleksandra Pikula, Philippe Amouyel, Kevin B Freeman, Thanh G Phan, Ben A Oostra, Jason L Stein, Sarah E Medland, Alejandro Arias Vasquez, Derrek P Hibar, Margaret J Wright, Barbara Franke, Nicholas G Martin and Paul M Thompson for the Cohorts for Enhancing Neuro Imaging Genetics through Meta-Analysis (ENIGMA) Consortium, Michael A Nalls, Andre G Uitterlinden, Rhoda Au, Alexis Elbaz, Richard J Beare, John C van Swieten, Oscar L Lopez, Tamara B Harris, Vincent Chouraki, Monique M B Breteler, Philip L De Jager, James T Becker, Meike W Vernooij, David Knopman, Franz Fazekas, Philip A Wolf, Aad van der Lugt, Vilmundur Gudnason, W T Longstreth Jr, Matthew A Brown, David A Bennett, Cornelia M van Duijn, Thomas H Mosley, Reinhold Schmidt, Christophe Tzourio, Lenore J Launer, M Arfan Ikram and Sudha Seshadri for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium
doi:10.1038/ng.2237
Sudha Seshadri and colleagues report a genome-wide association study for hippocampal volume. The authors identify loci at 12q14 and 12q24 associated with this phenotype.
First paragraph | Full Text | PDF
| | | | Identification of common variants associated with human hippocampal and intracranial volumes pp552 - 561
Jason L Stein, Sarah E Medland, Alejandro Arias Vasquez, Derrek P Hibar, Rudy E Senstad, Anderson M Winkler, Roberto Toro, Katja Appel, Richard Bartecek, Ørjan Bergmann, Manon Bernard, Andrew A Brown, Dara M Cannon, M Mallar Chakravarty, Andrea Christoforou, Martin Domin, Oliver Grimm, Marisa Hollinshead, Avram J Holmes, Georg Homuth, Jouke-Jan Hottenga, Camilla Langan, Lorna M Lopez, Narelle K Hansell, Kristy S Hwang, Sungeun Kim, Gonzalo Laje, Phil H Lee, Xinmin Liu, Eva Loth, Anbarasu Lourdusamy, Morten Mattingsdal, Sebastian Mohnke, Susana Muñoz Maniega, Kwangsik Nho, Allison C Nugent, Carol O'Brien, Martina Papmeyer, Benno Pütz, Adaikalavan Ramasamy, Jerod Rasmussen, Mark Rijpkema, Shannon L Risacher, J Cooper Roddey, Emma J Rose, Mina Ryten, Li Shen, Emma Sprooten, Eric Strengman, Alexander Teumer, Daniah Trabzuni, Jessica Turner, Kristel van Eijk, Theo G M van Erp, Marie-Jose van Tol, Katharina Wittfeld, Christiane Wolf, Saskia Woudstra, Andre Aleman, Saud Alhusaini, Laura Almasy, Elisabeth B Binder, David G Brohawn, Rita M Cantor, Melanie A Carless, Aiden Corvin, Michael Czisch, Joanne E Curran, Gail Davies, Marcio A A de Almeida, Norman Delanty, Chantal Depondt, Ravi Duggirala, Thomas D Dyer, Susanne Erk, Jesen Fagerness, Peter T Fox, Nelson B Freimer, Michael Gill, Harald H H Goring, Donald J Hagler, David Hoehn, Florian Holsboer, Martine Hoogman, Norbert Hosten, Neda Jahanshad, Matthew P Johnson, Dalia Kasperaviciute, Jack W Kent Jr, Peter Kochunov, Jack L Lancaster, Stephen M Lawrie, David C Liewald, René Mandl, Mar Matarin, Manuel Mattheisen, Eva Meisenzahl, Ingrid Melle, Eric K Moses, Thomas W Mühleisen, Matthias Nauck, Markus M Nöthen, Rene L Olvera, Massimo Pandolfo, G Bruce Pike, Ralf Puls, Ivar Reinvang, Miguel E Rentería, Marcella Rietschel, Joshua L Roffman, Natalie A Royle, Dan Rujescu, Jonathan Savitz, Hugo G Schnack, Knut Schnell, Nina Seiferth, Colin Smith, Vidar M Steen, Maria C Valdés Hernéndez, Martijn Van den Heuvel, Nic J van der Wee, Neeltje E M Van Haren, Joris A Veltman, Henry Völzke, Robert Walker, Lars T Westlye, Christopher D Whelan, Ingrid Agartz, Dorret I Boomsma, Gianpiero L Cavalleri, Anders M Dale, Srdjan Djurovic, Wayne C Drevets, Peter Hagoort, Jeremy Hall, Andreas Heinz, Clifford R Jack Jr, Tatiana M Foroud, Stephanie Le Hellard, Fabio Macciardi, Grant W Montgomery, Jean Baptiste Poline, David J Porteous, Sanjay M Sisodiya, John M Starr, Jessika Sussmann, Arthur W Toga, Dick J Veltman, Henrik Walter, Michael W Weiner, the Alzheimer's Disease Neuroimaging Initiative (ADNI), EPIGEN Consortium, IMAGEN Consortium, Saguenay Youth Study Group (SYS), Joshua C Bis, M Arfan Ikram, Albert V Smith, Vilmundur Gudnason, Christophe Tzourio, Meike W Vernooij, Lenore J Launer, Charles DeCarli, Sudha Seshadri, Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium, Ole A Andreassen, Liana G Apostolova, Mark E Bastin, John Blangero, Han G Brunner, Randy L Buckner, Sven Cichon, Giovanni Coppola, Greig I de Zubicaray, Ian J Deary, Gary Donohoe, Eco J C de Geus, Thomas Espeseth, Guillen Fernandez, David C Glahn, Hans J Grabe, John Hardy, Hilleke E Hulshoff Pol, Mark Jenkinson, Rene S Kahn, Colm McDonald, Andrew M McIntosh, Francis J McMahon, Katie L McMahon, Andreas Meyer-Lindenberg, Derek W Morris, Bertram Muller-Myhsok, Thomas E Nichols, Roel A Ophoff, Tomas Paus, Zdenka Pausova, Brenda W Penninx, Steven G Potkin, Philipp G Samann, Andrew J Saykin, Gunter Schumann, Jordan W Smoller, Joanna M Wardlaw, Michael E Weale, Nicholas G Martin, Barbara Franke, Margaret J Wright and Paul M Thompson for the Enhancing Neuro Imaging Genetics through Meta-Analysis (ENIGMA) Consortium,
doi:10.1038/ng.2250
Paul Thompson and colleagues report a genome-wide association study for hippocampal, intracranial and total brain volume. They identify a locus at 12q24 associated with hippocampal volume and a locus at 12q14 associated with intracranial volume.
First paragraph | Full Text | PDF
| | | | Multiple apical plasma membrane constituents are associated with susceptibility to meconium ileus in individuals with cystic fibrosis pp562 - 569
Lei Sun, Johanna M Rommens, Harriet Corvol, Weili Li, Xin Li, Theodore A Chiang, Fan Lin, Ruslan Dorfman, Pierre-Francois Busson, Rashmi V Parekh, Diana Zelenika, Scott M Blackman, Mary Corey, Vishal K Doshi, Lindsay Henderson, Kathleen M Naughton, Wanda K O'Neal, Rhonda G Pace, Jaclyn R Stonebraker, Sally D Wood, Fred A Wright, Julian Zielenski, Annick Clement, Mitchell L Drumm, Pierre-Yves Boëlle, Garry R Cutting, Michael R Knowles, Peter R Durie and Lisa J Strug
doi:10.1038/ng.2221
Lisa Strug and colleagues report a genome-wide association study for meconium ileus in individuals with cystic fibrosis. Conventional genome-wide approaches identified variants in SLC26A9 and SLC6A14 associated with meconium ileus. The authors also performed a hypothesis-driven genome-wide association study (HD-GWAS) that upweighted 3,814 SNPs within 10 kb of 155 genes expressed in the apical plasma membrane. The HD-GWAS identified variants near SLC9A3 associated with meconium ileus.
First paragraph | Full Text | PDF
| | | | Exome sequencing of gastric adenocarcinoma identifies recurrent somatic mutations in cell adhesion and chromatin remodeling genes pp570 - 574
Zhi Jiang Zang, Ioana Cutcutache, Song Ling Poon, Shen Li Zhang, John R McPherson, Jiong Tao, Vikneswari Rajasegaran, Hong Lee Heng, Niantao Deng, Anna Gan, Kiat Hon Lim, Choon Kiat Ong, DaChuan Huang, Sze Yung Chin, Iain Beehuat Tan, Cedric Chuan Young Ng, Willie Yu, Yingting Wu, Minghui Lee, Jeanie Wu, Dianne Poh, Wei Keat Wan, Sun Young Rha, Jimmy So, Manuel Salto-Tellez, Khay Guan Yeoh, Wai Keong Wong, Yi-Jun Zhu, P Andrew Futreal, Brendan Pang, Yijun Ruan, Axel M Hillmer, Denis Bertrand, Niranjan Nagarajan, Steve Rozen, Bin Tean Teh and Patrick Tan
doi:10.1038/ng.2246
Patrick Tan, Bin Tean Teh, Steve Rozen and colleagues report recurrent somatic mutations in the cell-adhesion gene FAT4 and the chromatin-remodeling gene ARID1A in gastric adenocarcinomas. Their data suggest that FAT4 functions as a tumor suppressor by maintaining proper cell adhesion and preventing malignant cell migration.
First paragraph | Full Text | PDF
| | | | ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome pp575 - 580
Tobias Willer, Hane Lee, Mark Lommel, Takako Yoshida-Moriguchi, Daniel Beltran Valero de Bernabe, David Venzke, Sebahattin Cirak, Harry Schachter, Jiri Vajsar, Thomas Voit, Francesco Muntoni, Andrea S Loder, William B Dobyns, Thomas L Winder, Sabine Strahl, Katherine D Mathews, Stanley F Nelson, Steven A Moore and Kevin P Campbell
doi:10.1038/ng.2252
Kevin Campbell and colleagues identify mutations in ISPD as a cause of Walker-Warburg syndrome (WWS) using a complementation assay in fibroblasts derived from affected individuals and targeted sequencing. They find that loss-of-function mutations in ISPD disrupt dystroglycan O-mannosylation, suggesting a new disease mechanism.
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| | | | Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan pp581 - 585
Tony Roscioli, Erik-Jan Kamsteeg, Karen Buysse, Isabelle Maystadt, Jeroen van Reeuwijk, Christa van den Elzen, Ellen van Beusekom, Moniek Riemersma, Rolph Pfundt, Lisenka E L M Vissers, Margit Schraders, Umut Altunoglu, Michael F Buckley, Han G Brunner, Bernard Grisart, Huiqing Zhou, Joris A Veltman, Christian Gilissen, Grazia M S Mancini, Paul Delrée, Michèl A Willemsen, Danijela Petković Ramadža, David Chitayat, Christopher Bennett, Eamonn Sheridan, Els A J Peeters, Gita M B Tan-Sindhunata, Christine E de Die-Smulders, Koenraad Devriendt, Hülya Kayserili, Osama Abd El-Fattah El-Hashash, Derek L Stemple, Dirk J Lefeber, Yung-Yao Lin and Hans van Bokhoven
doi:10.1038/ng.2253
Hans van Bokhoven and colleagues report mutations in the ISPD gene as a cause of Walker-Warburg syndrome. Knockdown of ispd in zebrafish causes hydrocephalus, reduced eye size, muscle degeneration and α-dystroglycan hypoglycosylation.
First paragraph | Full Text | PDF
| | | | Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair pp586 - 592
Yuka Nakazawa, Kensaku Sasaki, Norisato Mitsutake, Michiko Matsuse, Mayuko Shimada, Tiziana Nardo, Yoshito Takahashi, Kaname Ohyama, Kosei Ito, Hiroyuki Mishima, Masayo Nomura, Akira Kinoshita, Shinji Ono, Katsuya Takenaka, Ritsuko Masuyama, Takashi Kudo, Hanoch Slor, Atsushi Utani, Satoshi Tateishi, Shunichi Yamashita, Miria Stefanini, Alan R Lehmann, Koh-ichiro Yoshiura and Tomoo Ogi
doi:10.1038/ng.2229
Tomoo Ogi and colleagues report mutations of UVSSA causing a third complementation group of the UV-sensitive syndrome. UVSSA deficiency results in defective transcription-coupled nucleotide-excision repair and failure to resolve stalled RNA polymerase IIo at DNA damage sites.
First paragraph | Full Text | PDF
See also: News and Views by Cleaver
| | | | Mutations in UVSSA cause UV-sensitive syndrome and destabilize ERCC6 in transcription-coupled DNA repair pp593 - 597
Xue Zhang, Katsuyoshi Horibata, Masafumi Saijo, Chie Ishigami, Akiko Ukai, Shin-ichiro Kanno, Hidetoshi Tahara, Edward G Neilan, Masamitsu Honma, Takehiko Nohmi, Akira Yasui and Kiyoji Tanaka
doi:10.1038/ng.2228
Kiyoji Tanaka and colleagues report mutations of UVSSA causing a third complementation group of UV-sensitive syndrome. UVSSA deficiency results in defective transcription-coupled nucleotide-excision repair and failure to resolve stalled RNA polymerase IIo at DNA damage sites.
First paragraph | Full Text | PDF
See also: News and Views by Cleaver
| | | | UV-sensitive syndrome protein UVSSA recruits USP7 to regulate transcription-coupled repair pp598 - 602
Petra Schwertman, Anna Lagarou, Dick H W Dekkers, Anja Raams, Adriana C van der Hoek, Charlie Laffeber, Jan H J Hoeijmakers, Jeroen A A Demmers, Maria Fousteri, Wim Vermeulen and Jurgen A Marteijn
doi:10.1038/ng.2230
Jurgen Marteijn, Wim Vermeulen and colleagues report proteomic identification of UVSSA in a UV-induced protein complex implicated in UV-sensitive syndrome. They show that knockdown of UVSSA impairs trancription-coupled nucleotide-excision repair.
First paragraph | Full Text | PDF
See also: News and Views by Cleaver
| | Technical Report | Top | | | | Bayesian method to predict individual SNP genotypes from gene expression data pp603 - 608
Eric E Schadt, Sangsoon Woo and Ke Hao
doi:10.1038/ng.2248
Eric Schadt and colleagues report a Bayesian method to predict individual SNP genotypes based on RNA expression data. Using simulations and empirical data sets, they show that it is possible to infer a genotypic barcode specific to an individual, although the identification of an individual as a participant in a study is limited by factors such as the availability of large-scale expression quantitative trait loci (eQTLs) and expression data sets.
Abstract | Full Text | PDF
| | Corrigendum | Top | | | | KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron p609
Hélène Louis-Dit-Picard, Julien Barc, Daniel Trujillano, Stéphanie Miserey-Lenkei, Nabila Bouatia-Naji, Olena Pylypenko, Geneviève Beaurain, Amélie Bonnefond, Olivier Sand, Christophe Simian, Emmanuelle Vidal-Petiot, Christelle Soukaseum, Chantal Mandet, Françoise Broux, Olivier Chabre, Michel Delahousse, Vincent Esnault, Béatrice Fiquet, Pascal Houillier, Corinne Isnard Bagnis, Jens Koenig, Martin Konrad, Paul Landais, Chebel Mourani, Patrick Niaudet, Vincent Probst, Christel Thauvin, Robert J Unwin, Steven D Soroka, Georg Ehret, Stephan Ossowski, Mark Caulfield International Consortium for Blood Pressure (ICBP), Patrick Bruneval, Xavier Estivill, Philippe Froguel, Juliette Hadchouel, Jean-Jacques Schott and Xavier Jeunemaitre
doi:10.1038/ng0512-609
Full Text | PDF
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