Volume 43 Issue 12, December 2011

Volume 43 Issue 12

Cover art: Fabric of Life Series,Melitaea phoebe VMPR #1A4A141by John Arabolos University of New Haven, New Haven, onnecticut, USA (http://arabolosart.com)

Editorial

  • Editorial |

    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?

Correspondence

News and Views

  • News & Views |

    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.

    • Constantin Polychronakos
  • News & Views |

    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.

    • Richard E. Lenski
  • News & Views |

    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.

    • Alan F. Wright

Research Highlights

Analysis

  • Analysis |

    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.

    • 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
    •  & Christine M Disteche

Brief Communications

  • Brief Communication |

    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.

    • 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
    •  & Fowzan S Alkuraya
  • Brief Communication |

    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.

    • 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

Articles

  • Article |

    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.

    • 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
  • Article |

    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.

    • 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
    •  & David J Adams

Letters

  • Letter |

    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.

    • 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
  • Letter |

    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.

    • 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
    •  & Hongbing Shen
  • Letter |

    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.

    • 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
    •  & Suet Yi Leung
  • Letter |

    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.

    • 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
  • Letter |

    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.

    • 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
  • Letter |

    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.

    • 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
    •  & Johanna M Seddon
  • Letter |

    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.

    • 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
    •  & Shiro Ikegawa
  • Letter |

    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.

    • 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
    • , Yu-Lung Lau
    • , Jing Zhang
    • , Xiao-Jing Ma
    • , Fang Liu
    • , Lin Wu
    • , Korean Kawasaki Disease Genetics Consortium
    • , Jeong-Jin Yoo
    • , Soo-Jong Hong
    • , Kwi-Joo Kim
    • , Jae-Jung Kim
    • , Young-Mi Park
    • , Young Mi Hong
    • , Sejung Sohn
    • , Gi Young Jang
    • , Kee-Soo Ha
    • , Hyo-Kyoung Nam
    • , Jung-Hye Byeon
    • , Sin Weon Yun
    • , Myung Ki Han
    • , Kyung-Yil Lee
    • , Ja-Young Hwang
    • , Jung-Woo Rhim
    • , Min Seob Song
    • , Hyoung-Doo Lee
    • , Dong Soo Kim
    • , Jae-Moo Lee
    • , Taiwan Kawasaki Disease Genetics Consortium
    • , Jeng-Sheng Chang
    • , Fuu-Jen Tsai
    • , Chi-Di Liang
    • , Ming-Ren Chen
    • , Hsin Chi
    • , Nan-Chang Chiu
    • , Fu-Yuan Huang
    • , Luan-Yin Chang
    • , Li-Min Huang
    • , Ho-Chang Kuo
    • , Kao-Pin Huang
    • , Meng-Luen Lee
    • , Betau Hwang
    • , Yhu-Chering Huang
    • , Pi-Chang Lee
    • , International Kawasaki Disease Genetics Consortium
    • , Miranda Odam
    • , Frank T Christiansen
    • , Campbell Witt
    • , Paul Goldwater
    • , Nigel Curtis
    • , Pamela Palasanthiran
    • , John Ziegler
    • , Michael Nissen
    • , Clare Nourse
    • , Irene M Kuipers
    • , Jaap J Ottenkamp
    • , Judy Geissler
    • , Maarten Biezeveld
    • , Carline Tacke
    • , Luc Filippini
    • , Paul Brogan
    • , Nigel Klein
    • , Vanita Shah
    • , Michael Dillon
    • , Robert Booy
    • , Delane Shingadia
    • , Anu Bose
    • , Thomas Mukasa
    • , Robert Tulloh
    • , Colin Michie
    • , US Kawasaki Disease Genetics Consortium
    • , Jane W Newburger
    • , Annette L Baker
    • , Anne H Rowley
    • , Stanford T Shulman
    • , Wilbert Mason
    • , Masato Takahashi
    • , Marian E Melish
    • , Adriana H Tremoulet
    • , Blue Mountains Eye Study
    • , Ananth Viswanathan
    • , Elena Rochtchina
    • , John Attia
    • , Rodney Scott
    • , Elizabeth Holliday
    •  & Stephen Harrap
  • Letter |

    Furen Zhang and colleagues report a genome-wide association study for susceptibility to leprosy. They identify two new risk loci at IL23R and RAB32.

    • 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
  • Letter |

    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.

    • 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
    •  & Zhi-Ying Wu
  • Letter |

    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.

    • 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
  • Letter |

    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.

    • 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
    • , Nadège Presneau
    •  & Adrienne M Flanagan
  • Letter |

    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.

    • Yibo Li
    • , Chuchuan Fan
    • , Yongzhong Xing
    • , Yunhe Jiang
    • , Lijun Luo
    • , Liang Sun
    • , Di Shao
    • , Chunjue Xu
    • , Xianghua Li
    • , Jinghua Xiao
    • , Yuqing He
    •  & Qifa Zhang
  • Letter |

    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.

    • Rob Jelier
    • , Jennifer I Semple
    • , Rosa Garcia-Verdugo
    •  & Ben Lehner
  • Letter |

    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.

    • 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
    •  & Roy Kishony