Monday, November 28, 2011

Nature Genetics Contents: December 2011 pp 1165 - 1280

Nature Genetics

Advertisement
See the Light. Make the Switch. Stop Cloning!
The LightSwitch Luciferase Assay System provides everything you need for reporter assays: pre-cloned human promoters and 3'UTRs in luciferase reporter vectors plus optimized luciferase reagents to measure promoter induction and miRNA target validation. Visit SwitchGear Genomics and explore our genome-wide collections and validated pathway sets.
TABLE OF CONTENTS

December 2011 Volume 43, Issue 12

recommend to your libraryRecommend to your library
live newsfeedsWeb feed
Content is available online onlyAvailable online only
subscribeSubscribe
Editorial
Correspondence
News and Views
Research Highlights
Analysis
Brief Communications
Articles
Letters

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


Breaking News!
FREE ACCESS: New Cochrane Review Article
Following the August article, AJH has just published another Cochrane review article AOP. Read this important article entitled the 'Effects of Low-Sodium Diet vs. High-Sodium Diet on Blood Pressure, Renin, Aldosterone, Catecholamines, Cholesterol, and Triglyceride (Cochrane Review)' for free.
Access the new article today!

 
Advertisement
Accelrys Discovery Studio 3.1 - a comprehensive portfolio of validated scientific technologies for both small molecule and macromolecule-based research. Now includes tools to predict protein-protein aggregation in biological therapeutics.

Discovery Studio meets the modeling, automation and collaboration challenges faced by scientists today.

Learn more by registering for our webinar series
 

Editorial

Top

The rugged landscape of drug design p1165
doi:10.1038/ng.1030
How can we get more therapies into preclinical testing and increase the proportion that succeed in preclinical testing? How can we increase the efficacy of therapies? How can we ensure that therapies are developed for rare diseases?
Full Text | PDF

Correspondence

Top

Evidence for dosage compensation between the X chromosome and autosomes in mammals pp1167 - 1169
Peter V Kharchenko, Ruibin Xi and Peter J Park
doi:10.1038/ng.991
Full Text | PDF

Relative overexpression of X-linked genes in mouse embryonic stem cells is consistent with Ohno's hypothesis pp1169 - 1170
Hong Lin, John A Halsall, Philipp Antczak, Laura P O'Neill, Francesco Falciani and Bryan M Turner
doi:10.1038/ng.992
Full Text | PDF

He et al. reply pp1171 - 1172
Xionglei He, Xiaoshu Chen, Yuanyan Xiong, Zhidong Chen, Xunzhang Wang, Suhua Shi, Xueqin Wang and Jianzhi Zhang
doi:10.1038/ng.1010
Full Text | PDF

News and Views

Top

Fine points in mapping autoimmunity pp1173 - 1174
Constantin Polychronakos
doi:10.1038/ng.1015
An efficient way to design genotyping arrays for fine mapping is to group phenotypes with common biology. The first application of the Immunochip to celiac disease provides an insightful view of what this strategy can achieve.
Full Text | PDF
See also: Article by Trynka et al.

Chance and necessity in the evolution of a bacterial pathogen pp1174 - 1176
Richard E. Lenski
doi:10.1038/ng.1011
The combination of genomic, epidemiological and evolutionary analyses provides a powerful toolbox for understanding how pathogens adapt to their human hosts. By sequencing 112 Burkholderia dolosa genomes from an outbreak among patients with cystic fibrosis, a new study documents evolution in action and identifies a set of genes that contributed to the pathogen's adaptation.
Full Text | PDF
See also: Letter by Lieberman et al.

A rare variant in CFH directly links age-related macular degeneration with rare glomerular nephropathies pp1176 - 1177
Alan F. Wright
doi:10.1038/ng.1012
A careful analysis of risk haplotypes in relation to age-related macular degeneration (AMD) susceptibility has led to the identification of a rare, high-penetrance variant in the complement factor H (CFH) gene that is also causally associated with atypical hemolytic uremic syndrome (aHUS) and related glomerulopathies. This finding provides a convincing causal mechanism linking the two diseases and develops a paradigm for the genetic architecture of a common and complex disease.
Full Text | PDF
See also: Letter by Raychaudhuri et al.

Genetics
JOBS of the week
Operationeel technicus 2
Wageningen UR (University & Research centre)
PhD position Malaria Epidemiology and Entomology
Wageningen UR (University & Research centre)
PhD Student in Electrical Engineering
Universitypositions
PhD student in Biomass / solid fuel thermal conversion using high-temperature agent
Universitypositions
PhD student in Fibre technology
Universitypositions
More Science jobs from
Genetics
EVENT
Complex Traits: Genomics and Computational Approaches (B5)
20.-25.02.12
CO, US
More science events from

Research Highlights

Top

Leishmaniasis genomes | Priming for chemotherapy | PTEN ceRNAs in melanoma | Personalized asthma control | AKT2 mutations and hypoglycemia


Analysis

Top

Evidence for compensatory upregulation of expressed X-linked genes in mammals, Caenorhabditis elegans and Drosophila melanogaster  pp1179 - 1185
Xinxian Deng, Joseph B Hiatt, Di Kim Nguyen, Sevinc Ercan, David Sturgill, LaDeana W Hillier, Felix Schlesinger, Carrie A Davis, Valerie J Reinke, Thomas R Gingeras, Jay Shendure, Robert H Waterston, Brian Oliver, Jason D Lieb and Christine M Disteche
doi:10.1038/ng.948
Brian Oliver, Jason Lieb, Christine Disteche and colleagues present an analysis of expression data in mammals, C. elegans and Drosophila. They conclude that dosage compensation corrects the imbalance in the number of X chromosomes relative to autosomes by upregulating X-linked genes in both males and females.
Abstract | Full Text | PDF

Brief Communications

Top

Loss-of-function variant in DNASE1L3 causes a familial form of systemic lupus erythematosus pp1186 - 1188
Sulaiman M Al-Mayouf, Asma Sunker, Reem Abdwani, Safiya Al Abrawi, Fathiya Almurshedi, Nadia Alhashmi, Abdullah Al Sonbul, Wafaa Sewairi, Aliya Qari, Eiman Abdallah, Mohammed Al-Owain, Saleh Al Motywee, Hanan Al-Rayes, Mais Hashem, Hanif Khalak, Latifa Al-Jebali and Fowzan S Alkuraya
doi:10.1038/ng.975
Fowzan Alkuraya and colleagues report the identification of a truncating mutation in DNASE1L3 in six families with an autosomal recessive Mendelian form of systemic lupus erythematosus, a complex autoimmune disease.
First paragraph | Full Text | PDF

Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD) pp1189 - 1192
Clare V Logan, Barbara Lucke, Caroline Pottinger, Zakia A Abdelhamed, David A Parry, Katarzyna Szymanska, Christine P Diggle, Anne van Riesen, Joanne E Morgan, Grace Markham, Ian Ellis, Adnan Y Manzur, Alexander F Markham, Mike Shires, Tim Helliwell, Mariacristina Scoto, Christoph Hübner, David T Bonthron, Graham R Taylor, Eamonn Sheridan, Francesco Muntoni, Ian M Carr, Markus Schuelke & Colin A Johnson
doi:10.1038/ng.995
Markus Schuelke, Colin Johnson and colleagues report the identification of mutations in MEGF10 that cause infantile myopathy with diaphragmatic weakness, areflexia, respiratory distress and dysphagia.
First paragraph | Full Text | PDF

Advertisement
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 at www.eppendorf.com/biospectrometer
 

Articles

Top

Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease pp1193 - 1201
Gosia Trynka, Karen A Hunt, Nicholas A Bockett, Jihane Romanos, Vanisha Mistry, Agata Szperl, Sjoerd F Bakker, Maria Teresa Bardella, Leena Bhaw-Rosun, Gemma Castillejo, Emilio G de la Concha, Rodrigo Coutinho de Almeida, Kerith-Rae M Dias, Cleo C van Diemen, Patrick C A Dubois, Richard H Duerr, Sarah Edkins, Lude Franke, Karin Fransen, Javier Gutierrez, Graham A R Heap, Barbara Hrdlickova, Sarah Hunt, Leticia Plaza Izurieta, Valentina Izzo, Leo A B Joosten, Cordelia Langford, Maria Cristina Mazzilli, Charles A Mein, Vandana Midah, Mitja Mitrovic, Barbara Mora, Marinita Morelli, Sarah Nutland, Concepción Núñez, Suna Onengut-Gumuscu, Kerra Pearce, Mathieu Platteel, Isabel Polanco, Simon Potter, Carmen Ribes-Koninckx, Isis Ricaño-Ponce, Stephen S Rich, Anna Rybak, José Luis Santiago, Sabyasachi Senapati, Ajit Sood, Hania Szajewska, Riccardo Troncone, Jezabel Varadé, Chris Wallace, Victorien M Wolters, Alexandra Zhernakova, Spanish Consortium on the Genetics of Coeliac Disease (CEGEC), PreventCD Study Group, Wellcome Trust Case Control Consortium (WTCCC), B K Thelma, Bozena Cukrowska, Elena Urcelay, Jose Ramon Bilbao, M Luisa Mearin, Donatella Barisani, Jeffrey C Barrett, Vincent Plagnol, Panos Deloukas, Cisca Wijmenga & David A van Heel
doi:10.1038/ng.998
David van Heel, Cisca Wijmenga and colleagues used a custom, high-density genotyping chip to examine 183 immune-related loci for their role in celiac disease. They report 13 new regions associated with celiac disease risk, identify multiple independent signals at several loci and refine the localization of many previously reported risk signals.
Abstract | Full Text | PDF
See also: News and Views by Polychronakos

Insertional mutagenesis identifies multiple networks of cooperating genes driving intestinal tumorigenesis pp1202 - 1209
H Nikki March, Alistair G Rust, Nicholas A Wright, Jelle ten Hoeve, Jeroen de Ridder, Matthew Eldridge, Louise van der Weyden, Anton Berns, Jules Gadiot, Anthony Uren, Richard Kemp, Mark J Arends, Lodewyk F A Wessels, Douglas J Winton and David J Adams
doi:10.1038/ng.990
Douglas Winton and colleagues report the results of a large insertional mutagenesis screen to identify drivers of intestinal tumorigenesis in mice. The study identifies a large number of potential cancer drivers, including new modifiers of canonical Wnt signaling and components of the FGF pathway.
Abstract | Full Text | PDF

Advertisement
New: informatics and tools for interpreting
whole genomes

knomeBASE automatically annotates, compares, and distills human whole genome sequence data, allowing you to focus on discovery - not informatics. knomeBASE also includes a suite of software tools, scripts, and libraries that give geneticists unprecedented flexibility to query multiple genomes and visualize gene interaction networks. $750 per genome.
Learn more.
 

Letters

Top

A common variant at the TERT-CLPTM1L locus is associated with estrogen receptor-negative breast cancer pp1210 - 1214
Christopher A Haiman, Gary K Chen, Celine M Vachon, Federico Canzian, Alison Dunning, Robert C Millikan, Xianshu Wang, Foluso Ademuyiwa, Shahana Ahmed, Christine B Ambrosone, Laura Baglietto, Rosemary Balleine, Elisa V Bandera, Matthias W Beckmann, Christine D Berg, Leslie Bernstein, Carl Blomqvist, William J Blot, Hiltrud Brauch, Julie E Buring, Lisa A Carey, Jane E Carpenter, Jenny Chang-Claude, Stephen J Chanock, Daniel I Chasman, Christine L Clarke, Angela Cox, Simon S Cross, Sandra L Deming, Robert B Diasio, Athanasios M Dimopoulos, W Ryan Driver, Thomas Dünnebier, Lorraine Durcan, Diana Eccles, Christopher K Edlund, Arif B Ekici, Peter A Fasching, Heather S Feigelson, Dieter Flesch-Janys, Florentia Fostira, Asta Försti, George Fountzilas, Susan M Gerty, The Gene Environment Interaction and Breast Cancer in Germany (GENICA) Consortium, Graham G Giles, Andrew K Godwin, Paul Goodfellow, Nikki Graham, Dario Greco, Ute Hamann, Susan E Hankinson, Arndt Hartmann, Rebecca Hein, Judith Heinz, Andrea Holbrook, Robert N Hoover, Jennifer J Hu, David J Hunter, Sue A Ingles, Astrid Irwanto, Jennifer Ivanovich, Esther M John, Nicola Johnson, Arja Jukkola-Vuorinen, Rudolf Kaaks, Yon-Dschun Ko, Laurence N Kolonel, Irene Konstantopoulou, Veli-Matti Kosma, Swati Kulkarni, Diether Lambrechts, Adam M Lee, Loïc Le Marchand, Timothy Lesnick, Jianjun Liu, Sara Lindstrom, Arto Mannermaa, Sara Margolin, Nicholas G Martin, Penelope Miron, Grant W Montgomery, Heli Nevanlinna, Stephan Nickels, Sarah Nyante, Curtis Olswold, Julie Palmer, Harsh Pathak, Dimitrios Pectasides, Charles M Perou, Julian Peto, Paul D P Pharoah, Loreall C Pooler, Michael F Press, Katri Pylkäs, Timothy R Rebbeck, Jorge L Rodriguez-Gil, Lynn Rosenberg, Eric Ross, Thomas Rüdiger, Isabel dos Santos Silva, Elinor Sawyer, Marjanka K Schmidt, Rüdiger Schulz-Wendtland, Fredrick Schumacher, Gianluca Severi, Xin Sheng, Lisa B Signorello, Hans-Peter Sinn, Kristen N Stevens, Melissa C Southey, William J Tapper, Ian Tomlinson, Frans B L Hogervorst, Els Wauters, JoEllen Weaver, Hans Wildiers, Robert Winqvist, David Van Den Berg, Peggy Wan, Lucy Y Xia, Drakoulis Yannoukakos, Wei Zheng, Regina G Ziegler, Afshan Siddiq, Susan L Slager, Daniel O Stram, Douglas Easton, Peter Kraft, Brian E Henderson & Fergus J Couch
doi:10.1038/ng.985
Christopher Haiman and colleagues report a genome-wide association study for estrogen receptor (ER)-negative breast cancer in women of African and European ancestry. They identify a variant at the TERT-CLPTM1L locus on 5p15 as associated with ER-negative and triple-negative breast cancer. This locus also harbors multiple variants associated with a range of other cancers.
First paragraph | Full Text | PDF

A genome-wide association study identifies new susceptibility loci for non-cardia gastric cancer at 3q13.31 and 5p13.1 pp1215 - 1218
Yongyong Shi, Zhibin Hu, Chen Wu, Juncheng Dai, Huizhang Li, Jing Dong, Meilin Wang, Xiaoping Miao, Yifeng Zhou, Feng Lu, Hanze Zhang, Lingmin Hu, Yue Jiang, Zhiqiang Li, Minjie Chu, Hongxia Ma, Jiaping Chen, Guangfu Jin, Wen Tan, Tangchun Wu, Zhengdong Zhang, Dongxin Lin and Hongbing Shen
doi:10.1038/ng.978
Hongbing Shen, Dongxin Lin, Yongyong Shi and colleagues identify two new susceptibility loci for non-cardia gastric cancer. They also confirm three previously reported risk loci for this gastric cancer subtype.
First paragraph | Full Text | PDF

Exome sequencing identifies frequent mutation of ARID1A in molecular subtypes of gastric cancer pp1219 - 1223
Kai Wang, Junsuo Kan, Siu Tsan Yuen, Stephanie T Shi, Kent Man Chu, Simon Law, Tsun Leung Chan, Zhengyan Kan, Annie S Y Chan, Wai Yin Tsui, Siu Po Lee, Siu Lun Ho, Anthony K W Chan, Grace H W Cheng, Peter C Roberts, Paul A Rejto, Neil W Gibson, David J Pocalyko, Mao Mao, Jiangchun Xu and Suet Yi Leung
doi:10.1038/ng.982
Suet Leung, Jiangchun Xu and colleagues report exome sequencing of 22 gastric cancers. They found that genes involved in chromatin modification were commonly mutated, including ARID1A encoding an SWI/SNF chromatin-remodeling complex component that had a high rate of mutation.
First paragraph | Full Text | PDF

Common variants on 8p12 and 1q24.2 confer risk of schizophrenia pp1224 - 1227
Yongyong Shi, Zhiqiang Li, Qi Xu, Ti Wang, Tao Li, Jiawei Shen, Fengyu Zhang, Jianhua Chen, Guoquan Zhou, Weidong Ji, Baojie Li, Yifeng Xu, Dengtang Liu, Peng Wang, Ping Yang, Benxiu Liu, Wensheng Sun, Chunling Wan, Shengying Qin, Guang He, Stacy Steinberg, Sven Cichon, Thomas Werge, Engilbert Sigurdsson, Sarah Tosato, Aarno Palotie, Markus M Nöthen, Marcella Rietschel, Roel A Ophoff, David A Collier, Dan Rujescu, David St Clair, Hreinn Stefansson, Kari Stefansson, Jue Ji, Qingzhong Wang, Wenjin Li, Linqing Zheng, Hairong Zhang, Guoyin Feng & Lin He
doi:10.1038/ng.980
Yongyong Shi, Lin He and colleagues report a genome-wide association study for schizophrenia in the Han Chinese population. They identify two new susceptibility loci on 8p12 and 1q24.2.
First paragraph | Full Text | PDF

Genome-wide association study identifies a susceptibility locus for schizophrenia in Han Chinese at 11p11.2 pp1228 - 1231
Wei-Hua Yue, Hai-Feng Wang, Liang-Dan Sun, Fu-Lei Tang, Zhong-Hua Liu, Hong-Xing Zhang, Wen-Qiang Li, Yan-Ling Zhang, Yang Zhang, Cui-Cui Ma, Bo Du, Li-Fang Wang, Yun-Qing Ren, Yong-Feng Yang, Xiao-Feng Hu, Yi Wang, Wei Deng, Li-Wen Tan, Yun-Long Tan, Qi Chen, Guang-Ming Xu, Gui-Gang Yang, Xian-bo Zuo, Hao Yan, Yan-Yan Ruan, Tian-Lan Lu, Xue Han, Xiao-Hong Ma, Yan Wang, Li-Wei Cai, Chao Jin, Hong-Yan Zhang, Jun Yan, Wei-Feng Mi, Xian-Yong Yin, Wen-Bin Ma, Qi Liu, Lan Kang, Wei Sun, Cheng-Ying Pan, Mei Shuang, Fu-De Yang, Chuan-Yue Wang, Jian-Li Yang, Ke-Qing Li, Xin Ma, Ling-Jiang Li, Xin Yu, Qi-Zhai Li, Xun Huang, Lu-Xian Lv, Tao Li, Guo-Ping Zhao, Wei Huang, Xue-Jun Zhang & Dai Zhang
doi:10.1038/ng.979
Dai Zhang and colleagues report a genome-wide association study for schizophrenia in the Han Chinese population. They identify a new susceptibility locus at 11p11.2 and also identify a locus at 6p21-22.1 in the extended MHC region, which has previously been reported to be associated with schizophrenia in individuals of European descent.
First paragraph | Full Text | PDF

A rare penetrant mutation in CFH confers high risk of age-related macular degeneration pp1232 - 1236
Soumya Raychaudhuri, Oleg Iartchouk, Kimberly Chin, Perciliz L Tan, Albert K Tai, Stephan Ripke, Sivakumar Gowrisankar, Soumya Vemuri, Kate Montgomery, Yi Yu, Robyn Reynolds, Donald J Zack, Betsy Campochiaro, Peter Campochiaro, Nicholas Katsanis, Mark J Daly and Johanna M Seddon
doi:10.1038/ng.976
Soumya Raychaudhuri and Johanna Seddon and colleagues report the identification of a rare penetrant mutation in CFH that associates with increased risk of age-related macular degeneration.
First paragraph | Full Text | PDF
See also: News and Views by Wright

A genome-wide association study identifies common variants near LBX1 associated with adolescent idiopathic scoliosis pp1237 - 1240
Yohei Takahashi, Ikuyo Kou, Atsushi Takahashi, Todd A Johnson, Katsuki Kono, Noriaki Kawakami, Koki Uno, Manabu Ito, Shohei Minami, Haruhisa Yanagida, Hiroshi Taneichi, Taichi Tsuji, Teppei Suzuki, Hideki Sudo, Toshiaki Kotani, Kota Watanabe, Kazuhiro Chiba, Naoya Hosono, Naoyuki Kamatani, Tatsuhiko Tsunoda, Yoshiaki Toyama, Michiaki Kubo, Morio Matsumoto and Shiro Ikegawa
doi:10.1038/ng.974
Shiro Ikegawa and colleagues identify common variants near LBX1 associated with adolescent idiopathic scoliosis. LBX1 encodes a homeobox protein expressed in the dorsal spinal cord and skeletal muscle that may contribute to scoliosis risk by altering somatosensory function.
First paragraph | Full Text | PDF

Genome-wide association study identifies FCGR2A as a susceptibility locus for Kawasaki disease pp1241 - 1246
Chiea Chuen Khor, Sonia Davila, Willemijn B Breunis, Yi-Ching Lee, Chisato Shimizu, Victoria J Wright, Rae S M Yeung, Dennis E K Tan, Kar Seng Sim, Jie Jin Wang, Tien Yin Wong, Junxiong Pang, Paul Mitchell, Rolando Cimaz, Nagib Dahdah, Yiu-Fai Cheung, Guo-Ying Huang, Wanling Yang, In-Sook Park, Jong-Keuk Lee, Jer-Yuarn Wu, Michael Levin, Jane C Burns, David Burgner, Taco W Kuijpers, Martin L Hibberd, Hong Kong–Shanghai Kawasaki Disease Genetics Consortium, Korean Kawasaki Disease Genetics Consortium, Taiwan Kawasaki Disease Genetics Consortium, International Kawasaki Disease Genetics Consortium, US Kawasaki Disease Genetics Consortium & Blue Mountains Eye Study
doi:10.1038/ng.981
The Hong Kong-Shanghai, Korean, Taiwan, US and International Kawasaki Disease Genetics Consortia report a genome-wide association study in Kawasaki disease. They identify a novel locus in the FCGR2A gene that confers elevated risk of disease.
First paragraph | Full Text | PDF

Identification of two new loci at IL23R and RAB32 that influence susceptibility to leprosy pp1247 - 1251
Furen Zhang, Hong Liu, Shumin Chen, Huiqi Low, Liangdan Sun, Yong Cui, Tongsheng Chu, Yi Li, Xi'an Fu, Yongxiang Yu, Gongqi Yu, Benqing Shi, Hongqing Tian, Dianchang Liu, Xiulu Yu, Jinghui Li, Nan Lu, Fangfang Bao, Chunying Yuan, Jian Liu, Huaxu Liu, Lin Zhang, Yonghu Sun, Mingfei Chen, Qing Yang, Haitao Yang, Rongde Yang, Lianhua Zhang, Qiang Wang, Hong Liu, Fuguang Zuo, Haizhen Zhang, Chiea Chuen Khor, Martin L Hibberd, Sen Yang, Jianjun Liu & Xuejun Zhang
doi:10.1038/ng.973
Furen Zhang and colleagues report a genome-wide association study for susceptibility to leprosy. They identify two new risk loci at IL23R and RAB32.
First paragraph | Full Text | PDF

Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia pp1252 - 1255
Wan-Jin Chen, Yu Lin, Zhi-Qi Xiong, Wei Wei, Wang Ni, Guo-He Tan, Shun-Ling Guo, Jin He, Ya-Fang Chen, Qi-Jie Zhang, Hong-Fu Li, Yi Lin, Shen-Xing Murong, Jianfeng Xu, Ning Wang and Zhi-Ying Wu
doi:10.1038/ng.1008
Zhi-Ying Wu and colleagues report the identification of truncating mutations in the PRRT2 gene in families with paroxysmal kinesigenic dyskinesia. PRRT2 encodes the proline-rich transmembrane protein 2.
First paragraph | Full Text | PDF

Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome pp1256 - 1261
Twinkal C Pansuriya, Ronald van Eijk, Pio d'Adamo, Maayke A J H van Ruler, Marieke L Kuijjer, Jan Oosting, Anne-Marie Cleton-Jansen, Jolieke G van Oosterwijk, Sofie L J Verbeke, Daniëlle Meijer, Tom van Wezel, Karolin H Nord, Luca Sangiorgi, Berkin Toker, Bernadette Liegl-Atzwanger, Mikel San-Julian, Raf Sciot, Nisha Limaye, Lars-Gunnar Kindblom, Soeren Daugaard, Catherine Godfraind, Laurence M Boon, Miikka Vikkula, Kyle C Kurek, Karoly Szuhai, Pim J French & Judith V M G Bovée
doi:10.1038/ng.1004
Judith Bovée and colleagues report the identification of somatic mosaic mutations in IDH1 and IDH2 in tumors from individuals with Ollier disease and Maffucci syndrome, which are non-hereditary skeletal disorders characterized by multiple enchondromas.
First paragraph | Full Text | PDF

Ollier disease and Maffucci syndrome are caused by somatic mosaic mutations of IDH1 and IDH2  pp1262 - 1265
M Fernanda Amary, Stephen Damato, Dina Halai, Malihe Eskandarpour, Fitim Berisha, Fiona Bonar, Stan McCarthy, Valeria R Fantin, Kimberly S Straley, Samira Lobo, Will Aston, Claire L Green, Rosemary E Gale, Roberto Tirabosco, Andrew Futreal, Peter Campbell, Nadege Presneau and Adrienne M Flanagan
doi:10.1038/ng.994
Adrienne Flanagan and colleagues report the identification of somatic mosaic mutations in the IDH1 and IDH2 genes in tumors from individuals with Ollier disease and Maffucci syndrome, diseases that are characterized by the presence of multiple central cartilaginous tumors that are accompanied by soft tissue hemangiomas in Maffucci syndrome.
First paragraph | Full Text | PDF

Natural variation in GS5 plays an important role in regulating grain size and yield in rice pp1266 - 1269
Yibo Li, Chuchuan Fan, Yongzhong Xing, Yunhe Jiang, Lijun Luo, Liang Sun, Di Shao, Chunjue Xu, Xianghua Li, Jinghua Xiao, Yuqing He and Qifa Zhang
doi:10.1038/ng.977
Qifa Zhang and colleagues report the map-based cloning of the quantitative trait locus GS5, which regulates grain size and yield in rice. GS5 encodes a putative serine carboxypeptidase and increased expression is associated with larger grain.
First paragraph | Full Text | PDF

Predicting phenotypic variation in yeast from individual genome sequences pp1270 - 1274
Rob Jelier, Jennifer I Semple, Rosa Garcia-Verdugo and Ben Lehner
doi:10.1038/ng.1007
Ben Lehner and colleagues report an analysis of the published genome sequences of 19 S. cerevisiae strains together with the results of growth experiments using 15 strains across 20 environmental conditions. They define sets of genes influencing growth under these different conditions and use their data to make predictions about the phenotypes of individual strains.
First paragraph | Full Text | PDF

Parallel bacterial evolution within multiple patients identifies candidate pathogenicity genes pp1275 - 1280
Tami D Lieberman, Jean-Baptiste Michel, Mythili Aingaran, Gail Potter-Bynoe, Damien Roux, Michael R Davis Jr, David Skurnik, Nicholas Leiby, John J LiPuma, Joanna B Goldberg, Alexander J McAdam, Gregory P Priebe and Roy Kishony
doi:10.1038/ng.997
Roy Kishony and colleagues sequenced the genomes of 112 Burkholderia dolosa isolates recovered from 14 individuals with cystic fibrosis as part of a retrospective study from a hospital epidemic monitored over the course of 16 years. They tracked recurrent mutations occurring in the bacterial isolates and found that 17 genes showed evidence of parallel adaptive evolution.
First paragraph | Full Text | PDF
See also: News and Views by Lenski

Top
Advertisement
Dermatogenetics
February 9-12, 2012 • Miami, FL, USA
The conference will cover: genetic variation, gene expression and cellular mechanisms in this shared area of exceptional interest to basic researchers, biopharma and translational medicine.

Abstract Submission and Early Registration Deadline: December 1, 2011

For more information and to register visit:
www.nature.com/natureconferences/dg2012
 
nature events
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
More Nature Events

You have been sent this Table of Contents Alert because you have opted in to receive it. You can change or discontinue your e-mail alerts at any time, by modifying your preferences on your nature.com account at: www.nature.com/myaccount
(You will need to log in to be recognised as a nature.com registrant)

For further technical assistance, please contact our registration department

For print subscription enquiries, please contact our subscription department

For other enquiries, please contact our customer feedback department

Nature Publishing Group | 75 Varick Street, 9th Floor | New York | NY 10013-1917 | USA

Nature Publishing Group's worldwide offices:
London - Paris - Munich - New Delhi - Tokyo - Melbourne
San Diego - San Francisco - Washington - New York - Boston

Macmillan Publishers Limited is a company incorporated in England and Wales under company number 785998 and whose registered office is located at Brunel Road, Houndmills, Basingstoke, Hampshire RG21 6XS.

© 2011 Nature Publishing Group, a division of Macmillan Publishers Limited. All Rights Reserved.

nature publishing group

No comments: