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| |  | TABLE OF CONTENTS
| October 2012 Volume 44, Issue 10 |  | | |  |  Editorial
News and Views
Research Highlights
Brief Communication
Articles
Letters
Technical Report
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| | | | Editorial |  Top | |  | | Respectful re-use p1073
doi:10.1038/ng.2433
The impact of the papers we publish depends increasingly on the data they describe. In insisting on data access for referees and readers, we prioritize scientific integrity above all and place the interests of research participants before impact.
| | News and Views | Top | | | | | | Research Highlights | Top | | | | miRNAs and malaria resistance | Single-stranded siRNA therapeutics | New recessive autism syndrome | Transcription programs and cell division | Regulatory regions
| Brief Communication | Top | | | | Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia pp1080 - 1083
Magdalena Zimoń, Jonathan Baets, Leonardo Almeida-Souza, Els De Vriendt, Jelena Nikodinovic, Yesim Parman, Esra Battaloǧlu, Zeliha Matur, Velina Guergueltcheva, Ivailo Tournev, Michaela Auer-Grumbach, Peter De Rijk, Britt-Sabina Petersen, Thomas Müller, Erik Fransen, Philip Van Damme, Wolfgang N Löscher, Nina Barišić, Zoran Mitrovic, Stefano C Previtali, Haluk Topaloǧlu, Günther Bernert, Ana Beleza-Meireles, Slobodanka Todorovic, Dusanka Savic-Pavicevic, Boryana Ishpekova, Silvia Lechner, Kristien Peeters, Tinne Ooms, Angelika F Hahn, Stephan Züchner, Vincent Timmerman, Patrick Van Dijck, Vedrana Milic Rasic, Andreas R Janecke, Peter De Jonghe & Albena Jordanova
doi:10.1038/ng.2406
Albena Jordanova and colleagues report mutations in HINT1 in autosomal recessive axonal neuropathy with neuromyotonia. Using linkage analysis and whole-genome sequencing, they identify 8 mutations in 33 affected families.
| | Articles | Top | | | | Mapping cis- and trans-regulatory effects across multiple tissues in twins pp1084 - 1089
Elin Grundberg, Kerrin S Small, Åsa K Hedman, Alexandra C Nica, Alfonso Buil, Sarah Keildson, Jordana T Bell, Tsun-Po Yang, Eshwar Meduri, Amy Barrett, James Nisbett, Magdalena Sekowska, Alicja Wilk, So-Youn Shin, Daniel Glass, Mary Travers, Josine L Min, Sue Ring, Karen Ho, Gudmar Thorleifsson, Augustine Kong, Unnur Thorsteindottir, Chrysanthi Ainali, Antigone S Dimas, Neelam Hassanali, Catherine Ingle, David Knowles, Maria Krestyaninova, Christopher E Lowe, Paola Di Meglio, Stephen B Montgomery, Leopold Parts, Simon Potter, Gabriela Surdulescu, Loukia Tsaprouni, Sophia Tsoka, Veronique Bataille, Richard Durbin, Frank O Nestle, Stephen O'Rahilly, Nicole Soranzo, Cecilia M Lindgren, Krina T Zondervan, Kourosh R Ahmadi, Eric E Schadt, Kari Stefansson, George Davey Smith, Mark I McCarthy, Panos Deloukas, Emmanouil T Dermitzakis, Tim D Spector & The Multiple Tissue Human Expression Resource (MuTHER) Consortium
doi:10.1038/ng.2394
The MuTHER Consortium reports an analysis of the genetics of gene expression in three tissues from approximately 850 mono- and dizygotic twins. They systematically dissect cis and trans genetic effects and estimate non-genetic effects on gene expression.
See also: News and Views by Goring
| | | | Genome-wide association analyses of esophageal squamous cell carcinoma in Chinese identify multiple susceptibility loci and gene-environment interactions pp1090 - 1097
Chen Wu, Peter Kraft, Kan Zhai, Jiang Chang, Zhaoming Wang, Yun Li, Zhibin Hu, Zhonghu He, Weihua Jia, Christian C Abnet, Liming Liang, Nan Hu, Xiaoping Miao, Yifeng Zhou, Zhihua Liu, Qimin Zhan, Yu Liu, Yan Qiao, Yuling Zhou, Guangfu Jin, Chuanhai Guo, Changdong Lu, Haijun Yang, Jianhua Fu, Dianke Yu, Neal D Freedman, Ti Ding, Wen Tan, Alisa M Goldstein, Tangchun Wu, Hongbing Shen, Yang Ke, Yixin Zeng, Stephen J Chanock, Philip R Taylor & Dongxin Lin
doi:10.1038/ng.2411
Dongxin Lin and colleagues report a genome-wide association study for esophageal squamous cell carcinoma (ESCC) in Chinese populations, identifying nine new susceptibility loci. They also perform a genome-wide gene-environment interaction analysis with alcohol consumption, a known risk factor for ESCC.
| | | | The draft genome of a diploid cotton Gossypium raimondii pp1098 - 1103
Kunbo Wang, Zhiwen Wang, Fuguang Li, Wuwei Ye, Junyi Wang, Guoli Song, Zhen Yue, Lin Cong, Haihong Shang, Shilin Zhu, Changsong Zou, Qin Li, Youlu Yuan, Cairui Lu, Hengling Wei, Caiyun Gou, Zequn Zheng, Ye Yin, Xueyan Zhang, Kun Liu, Bo Wang, Chi Song, Nan Shi, Russell J Kohel, Richard G Percy, John Z Yu, Yu-Xian Zhu, Jun Wang & Shuxun Yu
doi:10.1038/ng.2371
Yuxian Zhu and colleagues report the draft genome of a diploid cotton Gossypium raimondii. This species is a wild South American cotton, whose progenitor is thought to have been the contributor of the D subgenome of the allotetraploid commercial species Gossypium hirsutum and Gossypium barbadense, which account for ~95% of the worldwide cotton crop.
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| | | | Letters | Top | | | | Integrative genome analyses identify key somatic driver mutations of small-cell lung cancer pp1104 - 1110
Martin Peifer, Lynnette Fernández-Cuesta, Martin L Sos, Julie George, Danila Seidel, Lawryn H Kasper, Dennis Plenker, Frauke Leenders, Ruping Sun, Thomas Zander, Roopika Menon, Mirjam Koker, Ilona Dahmen, Christian Müller, Vincenzo Di Cerbo, Hans-Ulrich Schildhaus, Janine Altmüller, Ingelore Baessmann, Christian Becker, Bram de Wilde, Jo Vandesompele, Diana Böhm, Sascha Ansén, Franziska Gabler, Ines Wilkening, Stefanie Heynck, Johannes M Heuckmann, Xin Lu, Scott L Carter, Kristian Cibulskis, Shantanu Banerji, Gad Getz, Kwon-Sik Park, Daniel Rauh, Christian Grütter, Matthias Fischer, Laura Pasqualucci, Gavin Wright, Zoe Wainer, Prudence Russell, Iver Petersen, Yuan Chen, Erich Stoelben, Corinna Ludwig, Philipp Schnabel, Hans Hoffmann, Thomas Muley, Michael Brockmann, Walburga Engel-Riedel, Lucia A Muscarella, Vito M Fazio, Harry Groen, Wim Timens, Hannie Sietsma, Erik Thunnissen, Egbert Smit, Daniëlle A M Heideman, Peter J F Snijders, Federico Cappuzzo, Claudia Ligorio, Stefania Damiani, John Field, Steinar Solberg, Odd Terje Brustugun, Marius Lund-Iversen, Jörg Sänger, Joachim H Clement, Alex Soltermann, Holger Moch, Walter Weder, Benjamin Solomon, Jean-Charles Soria, Pierre Validire, Benjamin Besse, Elisabeth Brambilla, Christian Brambilla, Sylvie Lantuejoul, Philippe Lorimier, Peter M Schneider, Michael Hallek, William Pao, Matthew Meyerson, Julien Sage, Jay Shendure, Robert Schneider, Reinhard Büttner, Jürgen Wolf, Peter Nürnberg, Sven Perner, Lukas C Heukamp, Paul K Brindle, Stefan Haas & Roman K Thomas
doi:10.1038/ng.2396
Roman Thomas and colleagues report exome sequencing of 29 small-cell lung cancers (SCLCs), 2 SCLC genomes and transcriptomes of 15 SCLCs. They identify recurrent mutations in the CREBBP, EP300 and MLL genes encoding histone modifiers. They identify mutations in SLIT2 and EPHA7, which have a role in axon guidance and cell migration, and focal amplifications of FGFR1.
See also: News and Views by Pietanza & Ladanyi
| | | | Comprehensive genomic analysis identifies SOX2 as a frequently amplified gene in small-cell lung cancer pp1111 - 1116
Charles M Rudin, Steffen Durinck, Eric W Stawiski, John T Poirier, Zora Modrusan, David S Shames, Emily A Bergbower, Yinghui Guan, James Shin, Joseph Guillory, Celina Sanchez Rivers, Catherine K Foo, Deepali Bhatt, Jeremy Stinson, Florian Gnad, Peter M Haverty, Robert Gentleman, Subhra Chaudhuri, Vasantharajan Janakiraman, Bijay S Jaiswal, Chaitali Parikh, Wenlin Yuan, Zemin Zhang, Hartmut Koeppen, Thomas D Wu, Howard M Stern, Robert L Yauch, Kenneth E Huffman, Diego D Paskulin, Peter B Illei, Marileila Varella-Garcia, Adi F Gazdar, Frederic J de Sauvage, Richard Bourgon, John D Minna, Malcolm V Brock & Somasekar Seshagiri
doi:10.1038/ng.2405
Sekar Seshagiri and colleagues report exome, transcriptome and copy-number alteration data in small-cell lung cancer. The authors find SOX2 amplification in 27% of samples and also identify a recurrent RFL-MYCL1 fusion.
See also: News and Views by Pietanza & Ladanyi
| | | | Exome sequencing of hepatitis B virus-associated hepatocellular carcinoma pp1117 - 1121
Jian Huang, Qing Deng, Qun Wang, Kun-Yu Li, Ji-Hong Dai, Niu Li, Zhi-Dong Zhu, Bo Zhou, Xiao-Yan Liu, Rui-Fang Liu, Qian-Lan Fei, Hui Chen, Bing Cai, Boping Zhou, Hua-Sheng Xiao, Lun-Xiu Qin & Ze-Guang Han
doi:10.1038/ng.2391
Ze-Guang Han and colleagues report exome sequencing of ten hepatitis B virus-positive hepatocellular carcinomas. They identify recurrent somatic mutations in ARID1A and mutation signatures that may reflect mutagenic exposures.
See also: News and Views by Zhang
| | | | A low-frequency variant at 8q24.21 is strongly associated with risk of oligodendroglial tumors and astrocytomas with IDH1 or IDH2 mutation pp1122 - 1125
Robert B Jenkins, Yuanyuan Xiao, Hugues Sicotte, Paul A Decker, Thomas M Kollmeyer, Helen M Hansen, Matthew L Kosel, Shichun Zheng, Kyle M Walsh, Terri Rice, Paige Bracci, Lucie S McCoy, Ivan Smirnov, Joseph S Patoka, George Hsuang, Joe L Wiemels, Tarik Tihan, Alexander R Pico, Michael D Prados, Susan M Chang, Mitchel S Berger, Alissa A Caron, Stephanie R Fink, Chandralekha Halder, Amanda L Rynearson, Brooke L Fridley, Jan C Buckner, Brian P O'Neill, Caterina Giannini, Daniel H Lachance, John K Wiencke, Jeanette E Eckel-Passow & Margaret R Wrensch
doi:10.1038/ng.2388
Robert Jenkins and colleagues report fine mapping of the glioma risk region at 8q24.21. They identify a new low-frequency variant in the region that is strongly associated with risk of oligodendroglial tumors and astrocytomas with IDH1 or IDH2 mutation.
| | | | Common variation at 6q16 within HACE1 and LIN28B influences susceptibility to neuroblastoma pp1126 - 1130
Sharon J Diskin, Mario Capasso, Robert W Schnepp, Kristina A Cole, Edward F Attiyeh, Cuiping Hou, Maura Diamond, Erica L Carpenter, Cynthia Winter, Hanna Lee, Jayanti Jagannathan, Valeria Latorre, Achille Iolascon, Hakon Hakonarson, Marcella Devoto & John M Maris
doi:10.1038/ng.2387
John Maris and colleagues identify common variants at 6q16 associated with neuroblastoma susceptibility. The risk variants are located near the HACE1 and LIN28B genes, both of which show altered expression in advanced neuroblastomas.
| | | | Common variants at the MHC locus and at chromosome 16q24.1 predispose to Barrett's esophagus pp1131 - 1136
The Esophageal Adenocarcinoma Genetics Consortium, The Wellcome Trust Case Control Consortium 2, Zhan Su, Laura J Gay, Amy Strange, Claire Palles, Gavin Band, David C Whiteman, Francesco Lescai, Cordelia Langford, Manoj Nanji, Sarah Edkins, Anouk van der Winkel, David Levine, Peter Sasieni, Céline Bellenguez, Kimberley Howarth, Colin Freeman, Nigel Trudgill, Art T Tucker, Matti Pirinen, Maikel P Peppelenbosch, Luc J W van der Laan, Ernst J Kuipers, Joost P H Drenth, Wilbert H Peters, John V Reynolds, Dermot P Kelleher, Ross McManus, Heike Grabsch, Hans Prenen, Raf Bisschops, Kausila Krishnadath, Peter D Siersema, Jantine W P M van Baal, Mark Middleton, Russell Petty, Richard Gillies, Nicola Burch, Pradeep Bhandari, Stuart Paterson, Cathryn Edwards, Ian Penman, Kishor Vaidya, Yeng Ang, Iain Murray, Praful Patel, Weimin Ye, Paul Mullins, Anna H Wu, Nigel C Bird, Helen Dallal, Nicholas J Shaheen, Liam J Murray, Konrad Koss, Leslie Bernstein, Yvonne Romero, Laura J Hardie, Rui Zhang, Helen Winter, Douglas A Corley, Simon Panter, Harvey A Risch, Brian J Reid, Ian Sargeant, Marilie D Gammon, Howard Smart, Anjan Dhar, Hugh McMurtry, Haythem Ali, Geoffrey Liu, Alan G Casson, Wong-Ho Chow, Matt Rutter, Ashref Tawil, Danielle Morris, Chuka Nwokolo, Peter Isaacs, Colin Rodgers, Krish Ragunath, Chris MacDonald, Chris Haigh, David Monk, Gareth Davies, Saj Wajed, David Johnston, Michael Gibbons, Sue Cullen, Nicholas Church, Ruth Langley, Michael Griffin, Derek Alderson, Panos Deloukas, Sarah E Hunt, Emma Gray, Serge Dronov, Simon C Potter, Avazeh Tashakkori-Ghanbaria, Mark Anderson, Claire Brooks, Jenefer M Blackwell, Elvira Bramon, Matthew A Brown, Juan P Casas, Aiden Corvin, Audrey Duncanson, Hugh S Markus, Christopher G Mathew, Colin N A Palmer, Robert Plomin, Anna Rautanen, Stephen J Sawcer, Richard C Trembath, Ananth C Viswanathan, Nicholas Wood, Gosia Trynka, Cisca Wijmenga, Jean-Baptiste Cazier, Paul Atherfold, Anna M Nicholson, Nichola L Gellatly, Deborah Glancy, Sheldon C Cooper, David Cunningham, Tore Lind, Julie Hapeshi, David Ferry, Barrie Rathbone, Julia Brown, Sharon Love, Stephen Attwood, Stuart MacGregor, Peter Watson, Scott Sanders, Weronica Ek, Rebecca F Harrison, Paul Moayyedi, John de Caestecker, Hugh Barr, Elia Stupka, Thomas L Vaughan, Leena Peltonen, Chris C A Spencer, Ian Tomlinson, Peter Donnelly & Janusz A Z Jankowski
doi:10.1038/ng.2408
Peter Donnelly and colleagues report a genome-wide association study for Barrett's esophagus, a common premalignant condition associated with stomach acid reflux and predisposing to esophageal adenocarcinoma. They identify two loci associated with susceptibility to Barrett's esophagus.
| | | | Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis pp1137 - 1141
Jimmy Z Liu, Mohamed A Almarri, Daniel J Gaffney, George F Mells, Luke Jostins, Heather J Cordell, Samantha J Ducker, Darren B Day, Michael A Heneghan, James M Neuberger, Peter T Donaldson, Andrew J Bathgate, Andrew Burroughs, Mervyn H Davies, David E Jones, Graeme J Alexander, Jeffrey C Barrett, The UK Primary Biliary Cirrhosis (PBC) Consortium, The Wellcome Trust Case Control Consortium 3, Richard N Sandford & Carl A Anderson
doi:10.1038/ng.2395
Carl Anderson and colleagues report dense genotyping, using the Immunochip array, of 2,861 primary biliary cirrhosis (PBC) cases and 8,514 controls. They identify three loci newly associated with PBC, and their fine-mapping of previous susceptibility loci identifies five regions with multiple independent common, low-frequency and rare variant associations.
| | | | Genome-wide association analyses identify three new susceptibility loci for primary angle closure glaucoma pp1142 - 1146
Eranga N Vithana, Chiea-Chuen Khor, Chunyan Qiao, Monisha E Nongpiur, Ronnie George, Li-Jia Chen, Tan Do, Khaled Abu-Amero, Chor Kai Huang, Sancy Low, Liza-Sharmini A Tajudin, Shamira A Perera, Ching-Yu Cheng, Liang Xu, Hongyan Jia, Ching-Lin Ho, Kar Seng Sim, Ren-Yi Wu, Clement C Y Tham, Paul T K Chew, Daniel H Su, Francis T Oen, Sripriya Sarangapani, Nagaswamy Soumittra, Essam A Osman, Hon-Tym Wong, Guangxian Tang, Sujie Fan, Hailin Meng, Dao T L Huong, Hua Wang, Bo Feng, Mani Baskaran, Balekudaru Shantha, Vedam L Ramprasad, Govindasamy Kumaramanickavel, Sudha K Iyengar, Alicia C How, Kelvin Y Lee, Theru A Sivakumaran, Victor H K Yong, Serena M L Ting, Yang Li, Ya-Xing Wang, Wan-Ting Tay, Xueling Sim, Raghavan Lavanya, Belinda K Cornes, Ying-Feng Zheng, Tina T Wong, Seng-Chee Loon, Vernon K Y Yong, Naushin Waseem, Azhany Yaakub, Kee-Seng Chia, R Rand Allingham, Michael A Hauser, Dennis S C Lam, Martin L Hibberd, Shomi S Bhattacharya, Mingzhi Zhang, Yik Ying Teo, Donald T Tan, Jost B Jonas, E-Shyong Tai, Seang-Mei Saw, Do Nhu Hon, Saleh A Al-Obeidan, Jianjun Liu, Tran Nguyen Bich Chau, Cameron P Simmons, Jin-Xin Bei, Yi-Xin Zeng, Paul J Foster, Lingam Vijaya, Tien-Yin Wong, Chi-Pui Pang, Ningli Wang & Tin Aung
doi:10.1038/ng.2390
Ningli Wang, Tin Aung and colleagues report genome-wide association analyses for primary angle closure glaucoma, a major cause of blindness worldwide. They identify three loci newly associated with this disease.
| | | | Common variants at 6p21.1 are associated with large artery atherosclerotic stroke pp1147 - 1151
Elizabeth G Holliday, Jane M Maguire, Tiffany-Jane Evans, Simon A Koblar, Jim Jannes, Jonathan W Sturm, Graeme J Hankey, Ross Baker, Jonathan Golledge, Mark W Parsons, Rainer Malik, Mark McEvoy, Erik Biros, Martin D Lewis, Lisa F Lincz, Roseanne Peel, Christopher Oldmeadow, Wayne Smith, Pablo Moscato, Simona Barlera, Steve Bevan, Joshua C Bis, Eric Boerwinkle, Giorgio B Boncoraglio, Thomas G Brott, Robert D Brown Jr, Yu-Ching Cheng, John W Cole, Ioana Cotlarciuc, William J Devan, Myriam Fornage, Karen L Furie, Sólveig Grétarsdóttir, Andreas Gschwendtner, M Arfan Ikram, W T Longstreth Jr, James F Meschia, Braxton D Mitchell, Thomas H Mosley, Michael A Nalls, Eugenio A Parati, Bruce M Psaty, Pankaj Sharma, Kari Stefansson, Gudmar Thorleifsson, Unnur Thorsteinsdottir, Matthew Traylor, Benjamin F J Verhaaren, Kerri L Wiggins, Bradford B Worrall, The Australian Stroke Genetics Collaborative, The International Stroke Genetics Consortium, The Wellcome Trust Case Control Consortium 2, Cathie Sudlow, Peter M Rothwell, Martin Farrall, Martin Dichgans, Jonathan Rosand, Hugh S Markus, Rodney J Scott, Christopher Levi & John Attia
doi:10.1038/ng.2397
Elizabeth Holliday and colleagues report a genome-wide association study for ischemic stroke. They identify common variants at 6p21.1 associated with large artery atherosclerosis (LAA), a major subtype of ischemic stroke.
| | | | Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism pp1152 - 1155
David Coelho, Jaeseung C Kim, Isabelle R Miousse, Stephen Fung, Marcel du Moulin, Insa Buers, Terttu Suormala, Patricie Burda, Michele Frapolli, Martin Stucki, Peter Nürnberg, Holger Thiele, Horst Robenek, Wolfgang Höhne, Nicola Longo, Marzia Pasquali, Eugen Mengel, David Watkins, Eric A Shoubridge, Jacek Majewski, David S Rosenblatt, Brian Fowler, Frank Rutsch & Matthias R Baumgartner
doi:10.1038/ng.2386
Brian Fowler, David Rosenblatt and colleagues show that mutations in the ABC transporter gene ABCD4 cause a new inborn error of vitamin B12 metabolism. ABCD4 colocalizes with the lysosomal proteins LAMP1 and LMBD1 and may be involved in intracellular processing of vitamin B12.
| | | | Exome sequencing identifies MVK mutations in disseminated superficial actinic porokeratosis pp1156 - 1160
Sheng-Quan Zhang, Tao Jiang, Min Li, Xin Zhang, Yun-Qing Ren, Sheng-Cai Wei, Liang-Dan Sun, Hui Cheng, Yang Li, Xian-Yong Yin, Zheng-Mao Hu, Zhen-Ying Wang, Yuan Liu, Bi-Rong Guo, Hua-Yang Tang, Xian-Fa Tang, Yan-Tao Ding, Jian-Bo Wang, Ping Li, Bao-Yu Wu, Wen Wang, Xiang-Feng Yuan, Jun-Sheng Hou, Wei-Wei Ha, Wen-Ju Wang, Yu-Juan Zhai, Jing Wang, Fang-Fang Qian, Fu-Sheng Zhou, Gang Chen, Xian-Bo Zuo, Xiao-Dong Zheng, Yu-Jun Sheng, Jin-Ping Gao, Bo Liang, Pan Li, Jun Zhu, Feng-Li Xiao, Pei-Guang Wang, Yong Cui, Hui Li, Sheng-Xiu Liu, Min Gao, Xing Fan, Song-Ke Shen, Ming Zeng, Guang-Qing Sun, Yu Xu, Jing-Chu Hu, Ting-Ting He, Ying-Rui Li, Huan-Ming Yang, Jian Wang, Zhong-Yi Yu, Hui-Feng Zhang, Xin Hu, Ke Yang, Jie Wang, Shi-Xiang Zhao, You-Wen Zhou, Jian-Jun Liu, Wei-Dong Du, Li Zhang, Kun Xia, Sen Yang, Jun Wang & Xue-Jun Zhang
doi:10.1038/ng.2409
Xue-Jun Zhang, Jun Wang and colleagues identify mutations in MVK in disseminated superficial actinic porokeratosis, a disorder characterized by defects in epidermal keratinization. MVK encodes mevalonate kinase, an enzyme involved in the biosynthesis of cholesterol and isoprenoids.
| | | | A direct characterization of human mutation based on microsatellites pp1161 - 1165
James X Sun, Agnar Helgason, Gisli Masson, Sigríður Sunna Ebenesersdóttir, Heng Li, Swapan Mallick, Sante Gnerre, Nick Patterson, Augustine Kong, David Reich & Kari Stefansson
doi:10.1038/ng.2398
David Reich and colleagues report direct characterization of the human mutation rate based on analysis of 85,289 Icelandic individuals genotyped at 2,477 autosomal microsatellite loci. They use this mutation rate to build a model of microsatellite evolution and estimate key evolutionary parameters.
| | Technical Report | Top | | | | Rapid variance components-based method for whole-genome association analysis pp1166 - 1170
Gulnara R Svishcheva, Tatiana I Axenovich, Nadezhda M Belonogova, Cornelia M van Duijn and Yurii S Aulchenko
doi:10.1038/ng.2410
Yurii Aulchenko and colleagues report a variance components-based method, GRAMMAR-Gamma, for genome-wide association studies including a large number of individuals and genetic markers. They demonstrate, using simulations as well as human and Arabidopsis thaliana data sets, that their method provides unbiased estimates of SNP effect and increases computational efficiency, which may facilitate analysis of human whole-genome resequencing studies.
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ARTICLE SERIES ON DISEASE MECHANISMS
Starting August 2012
The articles in this series demonstrate the crucial part genetics plays in furthering our understanding of the basis of disease, from revealing biological pathways to improving knowledge of the relative contributions of various genetic and environmental factors.
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