Advertisement |  | Size: Reduced. Fun: Amplified.
Discover a new type of real-time PCR system, ultra-compact, silent and sleek.
The LightCycler® Nano Instrument performs fast and accurate qPCR and HRM for up to 32 samples in tube strips. Run it with a PC and Mac, or use just a USB flash drive. Experience cutting-edge thermal resolution and reproducibility.
Light up your lab now! |  |
| |  | TABLE OF CONTENTS
| October 2011 Volume 43, Issue 10 |  | | |  |  Editorial
News and Views
Research Highlights
Brief Communication
Articles
Letters
Erratum
Corrigenda
 Recommend to your library
 Web feed
 Available online only
 Subscribe
| | | Advertisement | | | | 
RNA-Seq just went from complicated to compatible. EA will provide your data in a format you are used to -- 100% microarray compatible format. Now you can have your data and use it too! Expression Analysis will help you detect 2x more differentially expressed transcripts, novel isoforms and SNVs and can achieve >97% alignment to your reference genome.
919-405-2248 |
|
|
| | | | Advertisement | | JOHNS HOPKINS UNIVERSITY - ONLINE INFORMATION SESSIONS
Earn your MASTER'S degree FULLY ONLINE with JHU's Advanced Biotechnology Studies programs. Attend an ONLINE Info Session for - Biotechnology Enterprise & Entrepreneurship (10/12), Biotechnology (10/13), Bioscience Regulatory Affairs & Enterprise (10/18), Bioinformatics (10/20).
Learn more and RSVP online at biotechnology.jhu.edu. | 
|
| | | | | Advertisement | |  Light Up Your Day!
Measure and record spectral ranges for photometric analysis in the UV/Vis range with the new Eppendorf BioSpectrometer®. The intuitive software guides you through the individual methods, step by step. In addition to pre-programmed methods for standard measurements you can also store your own methods. Frequently used methods can be saved separately for quick access.
Learn more about the new Eppendorf BioSpectrometer®. |
| | | | Editorial |  Top | |  | | Capture and release p921
doi:10.1038/ng.961
Fostering scientific progress and ensuring that the community has access to human exome data can be difficult to do when faced with the divergent interests of patients, data generators, data funders and potential data users. We support the archiving of sensitive datasets in secure repositories with appropriate mechanisms in place to control access.
Full Text | PDF
| | News and Views | Top | | | | | | Research Highlights | Top | | | | Sexually dimorphic digits | Selfish switch in honeybee workers | A surprising role for FOXO | MED12 mutations and uterine fibroids | Maternal imprinting defect
| Brief Communication | Top | | | | Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome) pp929 - 931
Pia Ostergaard, Michael A Simpson, Fiona C Connell, Colin G Steward, Glen Brice, Wesley J Woollard, Dimitra Dafou, Tatjana Kilo, Sarah Smithson, Peter Lunt, Victoria A Murday, Shirley Hodgson, Russell Keenan, Daniela T Pilz, Ines Martinez-Corral, Taija Makinen, Peter S Mortimer, Steve Jeffery, Richard C Trembath and Sahar Mansour
doi:10.1038/ng.923
Sahar Mansour and colleagues report alterations in the transcription factor GATA2 in eight pedigrees with Emberger disorder, which is characterized by primary lymphedema and predispositon to acute myeloid leukemia. Most of the heterozygous variants lead to frameshift mutations and premature termination of GATA2.
First paragraph | Full Text | PDF
See also: News and Views by Hyde & Liu
| | | Advertisement | | | | | | Articles | Top | | | | Oncogenic IL7R gain-of-function mutations in childhood T-cell acute lymphoblastic leukemia pp932 - 939
Priscila P Zenatti, Daniel Ribeiro, Wenqing Li, Linda Zuurbier, Milene C Silva, Maddalena Paganin, Julia Tritapoe, Julie A Hixon, André B Silveira, Bruno A Cardoso, Leonor M Sarmento, Nádia Correia, Maria L Toribio, Jörg Kobarg, Martin Horstmann, Rob Pieters, Silvia R Brandalise, Adolfo A Ferrando, Jules P Meijerink, Scott K Durum, J Andrés Yunes and João T Barata
doi:10.1038/ng.924
João Barata and colleagues identify somatic gain-of-function IL7R mutations in childhood T-cell acute lymphoblastic leukemia. The mutations result in constitutive receptor activation, implicating the IL-7R pathway as a potential therapeutic target in a subset of T-ALL cases.
Abstract | Full Text | PDF
| | | | Meta-analysis of genome-wide association studies from the CHARGE consortium identifies common variants associated with carotid intima media thickness and plaque pp940 - 947
Joshua C Bis, Maryam Kavousi, Nora Franceschini, Aaron Isaacs, Gonçalo R Abecasis, Ulf Schminke, Wendy S Post, Albert V Smith, L Adrienne Cupples, Hugh S Markus, Reinhold Schmidt, Jennifer E Huffman, Terho Lehtimäki, Jens Baumert, Thomas Münzel, Susan R Heckbert, Abbas Dehghan, Kari North, Ben Oostra, Steve Bevan, Eva-Maria Stoegerer, Caroline Hayward, Olli Raitakari, Christa Meisinger, Arne Schillert, Serena Sanna, Henry Völzke, Yu-Ching Cheng, Bolli Thorsson, Caroline S Fox, Kenneth Rice, Fernando Rivadeneira, Vijay Nambi, Eran Halperin, Katja E Petrovic, Leena Peltonen, H Erich Wichmann, Renate B Schnabel, Marcus Dörr, Afshin Parsa, Thor Aspelund, Serkalem Demissie, Sekar Kathiresan, Muredach P Reilly, the CARDIoGRAM Consortium: Kent Taylor, Andre Uitterlinden, David J Couper, Matthias Sitzer, Mika Kähönen, Thomas Illig, Philipp S Wild, Marco Orru, Jan Lüdemann, Alan R Shuldiner, Gudny Eiriksdottir, Charles C White, Jerome I Rotter, Albert Hofman, Jochen Seissler, Tanja Zeller, Gianluca Usala, Florian Ernst, Lenore J Launer, Ralph B D'Agostino Sr, Daniel H O'Leary, Christie Ballantyne, Joachim Thiery, Andreas Ziegler, Edward G Lakatta, Ravi Kumar Chilukoti, Tamara B Harris, Philip A Wolf, Bruce M Psaty, Joseph F Polak, Xia Li, Wolfgang Rathmann, Manuela Uda, Eric Boerwinkle, Norman Klopp, Helena Schmidt, James F Wilson, Jorma Viikari, Wolfgang Koenig, Stefan Blankenberg, Anne B Newman, Jacqueline Witteman, Gerardo Heiss, Cornelia van Duijn, Angelo Scuteri, Georg Homuth, Braxton D Mitchell, Vilmundur Gudnason and Christopher J O'Donnell
doi:10.1038/ng.920
Joshua Bis, Christopher O'Donnell and colleagues report a meta-analysis of genome-wide association studies from the CHARGE Consortium that identifies loci associated with carotid intima media thickness and plaque. These are established measures of subclinical atherosclerosis that predict future cardiovascular disease events.
Abstract | Full Text | PDF
| | | | Pol III binding in six mammals shows conservation among amino acid isotypes despite divergence among tRNA genes pp948 - 955
Claudia Kutter, Gordon D Brown, Ângela Gonçalves, Michael D Wilson, Stephen Watt, Alvis Brazma, Robert J White and Duncan T Odom
doi:10.1038/ng.906
Duncan Odom and colleagues map Pol III occupancy genome-wide in liver tissue from six mammals. The analysis showed variable binding of Pol III at individual tRNA genes that nevertheless led to conserved expression of amino acid isotypes.
Abstract | Full Text | PDF
| | | | Whole-genome sequencing of multiple Arabidopsis thaliana populations pp956 - 963
Jun Cao, Korbinian Schneeberger, Stephan Ossowski, Torsten Günther, Sebastian Bender, Joffrey Fitz, Daniel Koenig, Christa Lanz, Oliver Stegle, Christoph Lippert, Xi Wang, Felix Ott, Jonas Müller, Carlos Alonso-Blanco, Karsten Borgwardt, Karl J Schmid and Detlef Weigel
doi:10.1038/ng.911
Detlef Weigel and colleagues report results from the first phase of the Arabidopsis 1001 Genomes Project, based on short-read sequencing of 80 geographically diverse strains. This collection of strains has been made available to the scientific community, and the authors show that the identified polymorphisms in these strains can be useful for imputation and genome-wide association studies.
Abstract | Full Text | PDF
| | Letters | Top | | | | Genomic sequencing of colorectal adenocarcinomas identifies a recurrent VTI1A-TCF7L2 fusion pp964 - 968
Adam J Bass, Michael S Lawrence, Lear E Brace, Alex H Ramos, Yotam Drier, Kristian Cibulskis, Carrie Sougnez, Douglas Voet, Gordon Saksena, Andrey Sivachenko, Rui Jing, Melissa Parkin, Trevor Pugh, Roel G Verhaak, Nicolas Stransky, Adam T Boutin, Jordi Barretina, David B Solit, Evi Vakiani, Wenlin Shao, Yuji Mishina, Markus Warmuth, Jose Jimenez, Derek Y Chiang, Sabina Signoretti, William G Kaelin, Nicole Spardy, William C Hahn, Yujin Hoshida, Shuji Ogino, Ronald A DePinho, Lynda Chin, Levi A Garraway, Charles S Fuchs, Jose Baselga, Josep Tabernero, Stacey Gabriel, Eric S Lander, Gad Getz and Matthew Meyerson
doi:10.1038/ng.936
Matthew Meyerson and colleagues report the whole-genome sequencing of primary colorectal tumors and matched adjacent non-tumor tissue from nine individuals with colorectal cancer. They identify a recurrent VTI1A-TCF7L2 fusion in 3% of colorectal cancers.
First paragraph | Full Text | PDF
| | | | Genome-wide association study identifies five new schizophrenia loci pp969 - 976
Stephan Ripke, Alan R Sanders, Kenneth S Kendler, Douglas F Levinson, Pamela Sklar, Peter A Holmans, Dan-Yu Lin, Jubao Duan, Roel A Ophoff, Ole A Andreassen, Edward Scolnick, Sven Cichon, David St. Clair, Aiden Corvin, Hugh Gurling, Thomas Werge, Dan Rujescu, Douglas H R Blackwood, Carlos N Pato, Anil K Malhotra, Shaun Purcell, Frank Dudbridge, Benjamin M Neale, Lizzy Rossin, Peter M Visscher, Danielle Posthuma, Douglas M Ruderfer, Ayman Fanous, Hreinn Stefansson, Stacy Steinberg, Bryan J Mowry, Vera Golimbet, Marc De Hert, Erik G Jönsson, István Bitter, Olli P H Pietiläinen, David A Collier, Sarah Tosato, Ingrid Agartz, Margot Albus, Madeline Alexander, Richard L Amdur, Farooq Amin, Nicholas Bass, Sarah E Bergen, Donald W Black, Anders D Børglum, Matthew A Brown, Richard Bruggeman, Nancy G Buccola, William F Byerley, Wiepke Cahn, Rita M Cantor, Vaughan J Carr, Stanley V Catts, Khalid Choudhury, C Robert Cloninger, Paul Cormican, Nicholas Craddock, Patrick A Danoy, Susmita Datta, Lieuwe de Haan, Ditte Demontis, Dimitris Dikeos, Srdjan Djurovic, Peter Donnelly, Gary Donohoe, Linh Duong, Sarah Dwyer, Anders Fink-Jensen, Robert Freedman, Nelson B Freimer, Marion Friedl, Lyudmila Georgieva, Ina Giegling, Michael Gill, Birte Glenthøj, Stephanie Godard, Marian Hamshere, Mark Hansen, Thomas Hansen, Annette M Hartmann, Frans A Henskens, David M Hougaard, Christina M Hultman, Andrés Ingason, Assen V Jablensky, Klaus D Jakobsen, Maurice Jay, Gesche Jürgens, René S Kahn, Matthew C Keller, Gunter Kenis, Elaine Kenny, Yunjung Kim, George K Kirov, Heike Konnerth, Bettina Konte, Lydia Krabbendam, Robert Krasucki, Virginia K Lasseter, Claudine Laurent, Jacob Lawrence, Todd Lencz, F Bernard Lerer, Kung-Yee Liang, Paul Lichtenstein, Jeffrey A Lieberman, Don H Linszen, Jouko Lönnqvist, Carmel M Loughland, Alan W Maclean, Brion S Maher, Wolfgang Maier, Jacques Mallet, Pat Malloy, Manuel Mattheisen, Morten Mattingsdal, Kevin A McGhee, John J McGrath, Andrew McIntosh, Duncan E McLean, Andrew McQuillin, Ingrid Melle, Patricia T Michie, Vihra Milanova, Derek W Morris, Ole Mors, Preben B Mortensen, Valentina Moskvina, Pierandrea Muglia, Inez Myin-Germeys, Deborah A Nertney, Gerald Nestadt, Jimmi Nielsen, Ivan Nikolov, Merete Nordentoft, Nadine Norton, Markus M Nöthen, Colm T O'Dushlaine, Ann Olincy, Line Olsen, F Anthony O'Neill, Torben F Ørntoft, Michael J Owen, Christos Pantelis, George Papadimitriou, Michele T Pato, Leena Peltonen, Hannes Petursson, Ben Pickard, Jonathan Pimm, Ann E Pulver, Vinay Puri, Digby Quested, Emma M Quinn, Henrik B Rasmussen, János M Réthelyi, Robert Ribble, Marcella Rietschel, Brien P Riley, Mirella Ruggeri, Ulrich Schall, Thomas G Schulze, Sibylle G Schwab, Rodney J Scott, Jianxin Shi, Engilbert Sigurdsson, Jeremy M Silverman, Chris C A Spencer, Kari Stefansson, Amy Strange, Eric Strengman, T Scott Stroup, Jaana Suvisaari, Lars Terenius, Srinivasa Thirumalai, Johan H Thygesen, Sally Timm, Draga Toncheva, Edwin van den Oord, Jim van Os, Ruud van Winkel, Jan Veldink, Dermot Walsh, August G Wang, Durk Wiersma, Dieter B Wildenauer, Hywel J Williams, Nigel M Williams, Brandon Wormley, Stan Zammit, Patrick F Sullivan, Michael C O'Donovan, Mark J Daly & Pablo V Gejman for The Schizophrenia Psychiatric Genome-Wide Association Study (GWAS) Consortium
doi:10.1038/ng.940
The Schizophrenia Psychiatric Genome-Wide Association Study Consortium reports five genetic loci newly associated with risk of schizophrenia, involving 17,836 cases of schizophrenia and 33,859 healthy controls. The new locus with the strongest support of association was located within an intron for microRNA 137, a known regulator of neuronal development. Four other genome-wide significant loci for schizophrenia contain predicted targets of MIR137, suggesting that disruption to pathways involving MIR137 may be an etiologic mechanism in schizophrenia.
First paragraph | Full Text | PDF
| | | | Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4 pp977 - 983
Psychiatric GWAS Consortium Bipolar Disorder Working Group
doi:10.1038/ng.943
The Psychiatric GWAS Consortium Bipolar Disorder Working Group reports a large-scale genome-wide association study of 7,481 individuals with bipolar disorder with replication in 4,493 cases. The Consortium identifies a new susceptibility locus near ODZ4 and replicates a known association near CACNA1C for bipolar disorder.
First paragraph | Full Text | PDF
| | | | Genome-wide association study in individuals of South Asian ancestry identifies six new type 2 diabetes susceptibility loci pp984 - 989
Jaspal S Kooner, Danish Saleheen, Xueling Sim, Joban Sehmi, Weihua Zhang, Philippe Frossard, Latonya F Been, Kee-Seng Chia, Antigone S Dimas, Neelam Hassanali, Tazeen Jafar, Jeremy B M Jowett, Xinzhong Li, Venkatesan Radha, Simon D Rees, Fumihiko Takeuchi, Robin Young, Tin Aung, Abdul Basit, Manickam Chidambaram, Debashish Das, Elin Grundberg, Åsa K Hedman, Zafar I Hydrie, Muhammed Islam, Chiea-Chuen Khor, Sudhir Kowlessur, Malene M Kristensen, Samuel Liju, Wei-Yen Lim, David R Matthews, Jianjun Liu, Andrew P Morris, Alexandra C Nica, Janani M Pinidiyapathirage, Inga Prokopenko, Asif Rasheed, Maria Samuel, Nabi Shah, A Samad Shera, Kerrin S Small, Chen Suo, Ananda R Wickremasinghe, Tien Yin Wong, Mingyu Yang, Fan Zhang, DIAGRAM, MuTHER, Goncalo R Abecasis, Anthony H Barnett, Mark Caulfield, Panos Deloukas, Timothy M Frayling, Philippe Froguel, Norihiro Kato, Prasad Katulanda, M Ann Kelly, Junbin Liang, Viswanathan Mohan, Dharambir K Sanghera, James Scott, Mark Seielstad, Paul Z Zimmet, Paul Elliott, Yik Ying Teo, Mark I McCarthy, John Danesh, E Shyong Tai & John C Chambers
doi:10.1038/ng.921
John Chambers and colleagues report a genome-wide association study for type 2 diabetes in individuals of south Asian ancestry. They identify six loci newly associated with type 2 diabetes.
First paragraph | Full Text | PDF
| | | | Large-scale genome-wide association studies in east Asians identify new genetic loci influencing metabolic traits pp990 - 995
Young Jin Kim, Min Jin Go, Cheng Hu, Chang Bum Hong, Yun Kyoung Kim, Ji Young Lee, Joo-Yeon Hwang, Ji Hee Oh, Dong-Joon Kim, Nam Hee Kim, Soeui Kim, Eun Jung Hong, Ji-Hyun Kim, Haesook Min, Yeonjung Kim, Rong Zhang, Weiping Jia, Yukinori Okada, Atsushi Takahashi, Michiaki Kubo, Toshihiro Tanaka, Naoyuki Kamatani, Koichi Matsuda, MAGIC consortium, Taesung Park, Bermseok Oh, Kuchan Kimm, Daehee Kang, Chol Shin, Nam H Cho, Hyung-Lae Kim, Bok-Ghee Han, Jong-Young Lee and Yoon Shin Cho
doi:10.1038/ng.939
Yoon Shin Cho and colleagues report a genome-wide association study for nine metabolic traits in east Asians. They identify ten new loci that are associated with these traits.
First paragraph | Full Text | PDF
| | | | Genome-wide association study identifies a susceptibility locus for thoracic aortic aneurysms and aortic dissections spanning FBN1 at 15q21.1 pp996 - 1000
Scott A LeMaire, Merry-Lynn N McDonald, Dong-chuan Guo, Ludivine Russell, Charles C Miller III, Ralph J Johnson, Mir Reza Bekheirnia, Luis M Franco, Mary Nguyen, Reed E Pyeritz, Joseph E Bavaria, Richard Devereux, Cheryl Maslen, Kathryn W Holmes, Kim Eagle, Simon C Body, Christine Seidman, J G Seidman, Eric M Isselbacher, Molly Bray, Joseph S Coselli, Anthony L Estrera, Hazim J Safi, John W Belmont, Suzanne M Leal and Dianna M Milewicz
doi:10.1038/ng.934
Dianna Milewicz and colleagues report a genome-wide association study of sporadic thoracic aortic aneurysm and dissection. They identify an associated locus on 15q21 spanning the FBN1 gene.
First paragraph | Full Text | PDF
| | | | Genome-wide association study identifies two susceptibility loci for exudative age-related macular degeneration in the Japanese population pp1001 - 1004
Satoshi Arakawa, Atsushi Takahashi, Kyota Ashikawa, Naoya Hosono, Tomomi Aoi, Miho Yasuda, Yuji Oshima, Shigeo Yoshida, Hiroshi Enaida, Takashi Tsuchihashi, Keisuke Mori, Shigeru Honda, Akira Negi, Akira Arakawa, Kazuaki Kadonosono, Yutaka Kiyohara, Naoyuki Kamatani, Yusuke Nakamura, Tatsuro Ishibashi and Michiaki Kubo
doi:10.1038/ng.938
Michiaki Kubo and colleagues report a genome-wide association study for age-related macular degeneration in individuals of Japanese ancestry. They identify two genetic loci newly associated with this disease.
First paragraph | Full Text | PDF
| | | | Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure pp1005 - 1011
Louise V Wain, Germaine C Verwoert, Paul F O'Reilly, Gang Shi, Toby Johnson, Andrew D Johnson, Murielle Bochud, Kenneth M Rice, Peter Henneman, Albert V Smith, Georg B Ehret, Najaf Amin, Martin G Larson, Vincent Mooser, David Hadley, Marcus Dörr, Joshua C Bis, Thor Aspelund, Tõnu Esko, A Cecile J W Janssens, Jing Hua Zhao, Simon Heath, Maris Laan, Jingyuan Fu, Giorgio Pistis, Jian'an Luan, Pankaj Arora, Gavin Lucas, Nicola Pirastu, Irene Pichler, Anne U Jackson, Rebecca J Webster, Feng Zhang, John F Peden, Helena Schmidt, Toshiko Tanaka, Harry Campbell, Wilmar Igl, Yuri Milaneschi, Jouke-Jan Hottenga, Veronique Vitart, Daniel I Chasman, Stella Trompet, Jennifer L Bragg-Gresham, Behrooz Z Alizadeh, John C Chambers, Xiuqing Guo, Terho Lehtimäki, Brigitte Kühnel, Lorna M Lopez, Ozren Polašek, Mladen Boban, Christopher P Nelson, Alanna C Morrison, Vasyl Pihur, Santhi K Ganesh, Albert Hofman, Suman Kundu, Francesco U S Mattace-Raso, Fernando Rivadeneira, Eric J G Sijbrands, Andre G Uitterlinden, Shih-Jen Hwang, Ramachandran S Vasan, Thomas J Wang, Sven Bergmann, Peter Vollenweider, Gérard Waeber, Jaana Laitinen, Anneli Pouta, Paavo Zitting, Wendy L McArdle, Heyo K Kroemer, Uwe Völker, Henry Völzke, Nicole L Glazer, Kent D Taylor, Tamara B Harris, Helene Alavere, Toomas Haller, Aime Keis, Mari-Liis Tammesoo, Yurii Aulchenko, Inês Barroso, Kay-Tee Khaw, Pilar Galan, Serge Hercberg, Mark Lathrop, Susana Eyheramendy, Elin Org, Siim Sõber, Xiaowen Lu, Ilja M Nolte, Brenda W Penninx, Tanguy Corre, Corrado Masciullo, Cinzia Sala, Leif Groop, Benjamin F Voight, Olle Melander, Christopher J O'Donnell, Veikko Salomaa, Adamo Pio d'Adamo, Antonella Fabretto, Flavio Faletra, Sheila Ulivi, Fabiola Del Greco M, Maurizio Facheris, Francis S Collins, Richard N Bergman, John P Beilby, Joseph Hung, A William Musk, Massimo Mangino, So-Youn Shin, Nicole Soranzo, Hugh Watkins, Anuj Goel, Anders Hamsten, Pierre Gider, Marisa Loitfelder, Marion Zeginigg, Dena Hernandez, Samer S Najjar, Pau Navarro, Sarah H Wild, Anna Maria Corsi, Andrew Singleton, Eco J C de Geus, Gonneke Willemsen, Alex N Parker, Lynda M Rose, Brendan Buckley, David Stott, Marco Orru, Manuela Uda, LifeLines Cohort Study: Melanie M van der Klauw, Weihua Zhang, Xinzhong Li, James Scott, Yii-Der Ida Chen, Gregory L Burke, Mika Kähönen, Jorma Viikari, Angela Döring, Thomas Meitinger, Gail Davies, John M Starr, Valur Emilsson, Andrew Plump, Jan H Lindeman, Peter A C 't Hoen, Inke R König, EchoGen consortium, Janine F Felix, Robert Clarke, Jemma C Hopewell, Halit Ongen, Monique Breteler, Stéphanie Debette, Anita L DeStefano, Myriam Fornage, AortaGen Consortium, Gary F Mitchell, CHARGE Consortium Heart Failure Working Group, Nicholas L Smith, KidneyGen consortium, Hilma Holm, Kari Stefansson, Gudmar Thorleifsson, Unnur Thorsteinsdottir, CKDGen consortium, Cardiogenics consortium, CardioGram, Nilesh J Samani, Michael Preuss, Igor Rudan, Caroline Hayward, Ian J Deary, H-Erich Wichmann, Olli T Raitakari, Walter Palmas, Jaspal S Kooner, Ronald P Stolk, J Wouter Jukema, Alan F Wright, Dorret I Boomsma, Stefania Bandinelli, Ulf B Gyllensten, James F Wilson, Luigi Ferrucci, Reinhold Schmidt, Martin Farrall, Tim D Spector, Lyle J Palmer, Jaakko Tuomilehto, Arne Pfeufer, Paolo Gasparini, David Siscovick, David Altshuler, Ruth J F Loos, Daniela Toniolo, Harold Snieder, Christian Gieger, Pierre Meneton, Nicholas J Wareham, Ben A Oostra, Andres Metspalu, Lenore Launer, Rainer Rettig, David P Strachan, Jacques S Beckmann, Jacqueline C M Witteman, Jeanette Erdmann, Ko Willems van Dijk, Eric Boerwinkle, Michael Boehnke, Paul M Ridker, Marjo-Riitta Jarvelin, Aravinda Chakravarti, Goncalo R Abecasis, Vilmundur Gudnason, Christopher Newton-Cheh, Daniel Levy, Patricia B Munroe, Bruce M Psaty, Mark J Caulfield, Dabeeru C Rao, Martin D Tobin, Paul Elliott and Cornelia M van Duijn
doi:10.1038/ng.922
Paul Elliott, Martin Tobin, Cornelia van Duijn and colleagues report a genome-wide association study for pulse pressure and mean arterial pressure, identifying six new loci influencing these two traits.
First paragraph | Full Text | PDF
| | | | Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia pp1012 - 1017
Christopher N Hahn, Chan-Eng Chong, Catherine L Carmichael, Ella J Wilkins, Peter J Brautigan, Xiao-Chun Li, Milena Babic, Ming Lin, Amandine Carmagnac, Young K Lee, Chung H Kok, Lucia Gagliardi, Kathryn L Friend, Paul G Ekert, Carolyn M Butcher, Anna L Brown, Ian D Lewis, L Bik To, Andrew E Timms, Jan Storek, Sarah Moore, Meryl Altree, Robert Escher, Peter G Bardy, Graeme K Suthers, Richard J D'Andrea, Marshall S Horwitz and Hamish S Scott
doi:10.1038/ng.913
Hamish Scott and colleagues report that germline mutations in GATA2 segregate with myelodysplastic syndrome and acute myeloid leukemia in four pedigrees. The resulting alterations occur in a conserved zinc finger DNA-binding domain of GATA2.
First paragraph | Full Text | PDF
See also: News and Views by Hyde & Liu
| | | | Germline mutations in BAP1 predispose to melanocytic tumors pp1018 - 1021
Thomas Wiesner, Anna C Obenauf, Rajmohan Murali, Isabella Fried, Klaus G Griewank, Peter Ulz, Christian Windpassinger, Werner Wackernagel, Shea Loy, Ingrid Wolf, Agnes Viale, Alex E Lash, Mono Pirun, Nicholas D Socci, Arno Rutten, Gabriele Palmedo, David Abramson, Kenneth Offit, Arthur Ott, Jürgen C Becker, Lorenzo Cerroni, Heinz Kutzner, Boris C Bastian and Michael R Speicher
doi:10.1038/ng.910
Thomas Wiesner and colleagues report that germline mutations in BAP1 predispose to melanocytic tumors ranging histopathologically from epithelioid nevi to atypical melanocytic proliferations. Some BAP1 mutation carriers also developed uveal or cutaneous melanomas.
First paragraph | Full Text | PDF
See also: News and Views by Goldstein
| | | | Germline BAP1 mutations predispose to malignant mesothelioma pp1022 - 1025
Joseph R Testa, Mitchell Cheung, Jianming Pei, Jennifer E Below, Yinfei Tan, Eleonora Sementino, Nancy J Cox, A Umran Dogan, Harvey I Pass, Sandra Trusa, Mary Hesdorffer, Masaki Nasu, Amy Powers, Zeyana Rivera, Sabahattin Comertpay, Mika Tanji, Giovanni Gaudino, Haining Yang and Michele Carbone
doi:10.1038/ng.912
Joseph Testa, Michele Carbone and colleagues report that germline mutations in BAP1 predispose to malignant mesothelioma and uveal melanoma. They further hypothesize that mesothelioma predominates in BAP1 mutation carriers following exposure to asbestos.
First paragraph | Full Text | PDF
See also: News and Views by Goldstein
| | | | Germline deletion of the miR-17[sim]92 cluster causes skeletal and growth defects in humans pp1026 - 1030
Loïc de Pontual, Evelyn Yao, Patrick Callier, Laurence Faivre, Val&etilde;rie Drouin, Sandra Cariou, Arie Van Haeringen, David Geneviève, Alice Goldenberg, Myriam Oufadem, Sylvie Manouvrier, Arnold Munnich, Joana Alves Vidigal, Michel Vekemans, Stanislas Lyonnet, Alexandra Henrion-Caude, Andrea Ventura and Jeanne Amiel
doi:10.1038/ng.915
Andrea Ventura and colleagues report germline hemizygous deletions in the miR-17~92 cluster in individuals with features overlapping Feingold syndrome. Mice with targeted deletions in miR17~92 also display growth and skeletal defects.
First paragraph | Full Text | PDF
| | | | Bayesian inference of ancient human demography from individual genome sequences pp1031 - 1034
Ilan Gronau, Melissa J Hubisz, Brad Gulko, Charles G Danko and Adam Siepel
doi:10.1038/ng.937
Adam Siepel and colleagues estimate key parameters for ancient human demography using a Bayesian analysis of the whole-genome sequences of six individuals from diverse populations. They present new methods for coalescent-based inference of demographic parameters as well as a custom pipeline for genotype inference.
First paragraph | Full Text | PDF
See also: News and Views by Pritchard
| | | | The genome of the mesopolyploid crop species Brassica rapa pp1035 - 1039
The Brassica rapa Genome Sequencing Project Consortium: Xiaowu Wang, Hanzhong Wang, Jun Wang, Rifei Sun, Jian Wu, Shengyi Liu, Yinqi Bai, Jeong-Hwan Mun, Ian Bancroft, Feng Cheng, Sanwen Huang, Xixiang Li, Wei Hua, Junyi Wang, Xiyin Wang, Michael Freeling, J Chris Pires, Andrew H Paterson, Boulos Chalhoub, Bo Wang, Alice Hayward, Andrew G Sharpe, Beom-Seok Park, Bernd Weisshaar, Binghang Liu, Bo Li, Bo Liu, Chaobo Tong, Chi Song, Christopher Duran, Chunfang Peng, Chunyu Geng, Chushin Koh, Chuyu Lin, David Edwards, Desheng Mu, Di Shen, Eleni Soumpourou, Fei Li, Fiona Fraser, Gavin Conant, Gilles Lassalle, Graham J King, Guusje Bonnema, Haibao Tang, Haiping Wang, Harry Belcram, Heling Zhou, Hideki Hirakawa, Hiroshi Abe, Hui Guo, Hui Wang, Huizhe Jin, Isobel A P Parkin, Jacqueline Batley, Jeong-Sun Kim, Jeremy Just, Jianwen Li, Jiaohui Xu, Jie Deng, Jin A Kim, Jingping Li, Jingyin Yu, Jinling Meng, Jinpeng Wang, Jiumeng Min, Julie Poulain, Jun Wang, Katsunori Hatakeyama, Kui Wu, Li Wang, Lu Fang, Martin Trick, Matthew G Links, Meixia Zhao, Mina Jin, Nirala Ramchiary, Nizar Drou, Paul J Berkman, Qingle Cai, Quanfei Huang, Ruiqiang Li, Satoshi Tabata, Shifeng Cheng, Shu Zhang, Shujiang Zhang, Shunmou Huang, Shusei Sato, Silong Sun, Soo-Jin Kwon, Su-Ryun Choi, Tae-Ho Lee, Wei Fan, Xiang Zhao, Xu Tan, Xun Xu, Yan Wang, Yang Qiu, Ye Yin, Yingrui Li, Yongchen Du, Yongcui Liao, Yongpyo Lim, Yoshihiro Narusaka, Yupeng Wang, Zhenyi Wang, Zhenyu Li, Zhiwen Wang, Zhiyong Xiong and Zhonghua Zhang
doi:10.1038/ng.919
The Brassica rapa Genome Sequencing Project Consortium reports the draft genome of the B. rapa accession Chiifu-401-42, an inbred Chinese cabbage line. The B. rapa genome should provide a useful reference genome for the Brassica species, which include many important oil and vegetable crops.
First paragraph | Full Text | PDF
| | Erratum | Top | | | | Erratum: Common variants in P2RY11 are associated with narcolepsy p1040
Birgitte R Kornum, Minae Kawashima, Juliette Faraco, Ling Lin, Thomas J Rico, Stephanie Hesselson, Robert C Axtell, Hedwich Kuipers, Karin Weiner, Alexandra Hamacher, Matthias U Kassack, Fang Han, Stine Knudsen, Jing Li, Xiaosong Dong, Juliane Winkelmann, Giuseppe Plazzi, Sona Nevsimalova, Seung-Chul Hong, Yutaka Honda, Makoto Honda, Birgit Hogl, Thanh G N Ton, Jacques Montplaisir, Patrice Bourgin, David Kemlink, Yu-Shu Huang, Simon Warby, Mali Einen, Jasmin L Eshragh, Taku Miyagawa, Alex Desautels, Elisabeth Ruppert, Per Egil Hesla, Francesca Poli, Fabio Pizza, Birgit Frauscher, Jong-Hyun Jeong, Sung-Pil Lee, Kingman P Strohl, William T Longstreth Jr, Mark Kvale, Marie Dobrovolna, Maurice M Ohayon, Gerald T Nepom, H-Erich Wichmann, Guy A Rouleau, Christian Gieger, Douglas F Levinson, Pablo V Gejman, Thomas Meitinger, Paul Peppard, Terry Young, Poul Jennum, Lawrence Steinman, Katsushi Tokunaga, Pui-Yan Kwok, Neil Risch, Joachim Hallmayer and Emmanuel Mignot
doi:10.1038/ng1011-1040b
Full Text | PDF
| | Corrigenda | Top | | | | Corrigendum: Identification of an imprinted master trans regulator at the KLF14 locus related to multiple metabolic phenotypes p1040
Kerrin S Small, Åsa K Hedman, Elin Grundberg, Alexandra C Nica, Gudmar Thorleifsson, Augustine Kong, Unnur Thorsteindottir, So-Youn Shin, Hannah B Richards, Nicole Soranzo, Kourosh R Ahmadi, Cecilia M Lindgren, Kari Stefansson, Emmanouil T Dermitzakis, Panos Deloukas, Timothy D Spector and Mark I McCarthy
doi:10.1038/ng1011-1040c
Full Text | PDF
| | | | Genome-wide association analyses identifies a susceptibility locus for tuberculosis on chromosome 18q11.2 p1040
Thorsten Thye, Fredrik O Vannberg, Sunny H Wong, Ellis Owusu-Dabo, Ivy Osei, John Gyapong, Giorgio Sirugo, Fatou Sisay-Joof, Anthony Enimil, Margaret A Chinbuah, Sian Floyd, David K Warndorff, Lifted Sichali, Simon Malema, Amelia C Crampin, Bagrey Ngwira, Yik Y Teo, Kerrin Small, Kirk Rockett, Dominic Kwiatkowski, Paul E Fine, Philip C Hill, Melanie Newport, Christian Lienhardt, Richard A Adegbola, Tumani Corrah, Andreas Ziegler, Andrew P Morris, Christian G Meyer, Rolf D Horstmann and Adrian V S Hill
doi:10.1038/ng1011-1040a
Full Text | PDF
| | | Top | |  | | Advertisement | | | | | | | | | | | | Natureevents is a fully searchable, multi-disciplinary database designed to maximise exposure for events organisers. The contents of the Natureevents Directory are now live. The digital version is available here.
Find the latest scientific conferences, courses, meetings and symposia on natureevents.com. For event advertising opportunities across the Nature Publishing Group portfolio please contact natureevents@nature.com | | | | | |
| |
|
|
No comments:
Post a Comment