Volume 43 Issue 11, November 2011

Volume 43 Issue 11

Cover art: Fabric of Life Series - Ecological Symmetries Morpho rhetenor MPR-1X1-1 by John Arabolos University of New Haven http://arabolosart.com/

Editorial

Correspondence

News and Views

  • News & Views |

    Diversification and specialization of high-throughput technologies demand assay-specific treatment of data for reliable interpretation. A new study shows that data generated using the Hi-C approach contain hidden features of interchromosomal DNA interactions, which are revealed through analysis with an integrated probabilistic model that corrects for multiple sources of bias in the data.

    • Myong-Hee Sung
    •  & Gordon L Hager
  • News & Views |

    A new study shows an inserted retroelement in the regulatory sequences of the maize tb1 gene, which controls shoot branching, was the target of human selection during the domestication of maize from its wild relative teosinte. The insertion allele was already present at low frequency in teosinte populations before selection, highlighting the significance of standing genetic variation in the evolution of morphological diversity.

    • Miltos Tsiantis
  • News & Views |

    The origin of DNA methylation patterns has been a mystery for many years. A new study identifies the DNA sequence itself as a key determinant and focuses attention on the role of transcription factors.

    • Adrian Bird

Research Highlights

Commentary

Analysis

Articles

  • Article |

    Mark Daly, Manuel Rivas and colleagues used next-generation sequencing to study the coding exons of 56 genes from regions previously associated with Crohn's disease. Follow-up analyses in independent case-control series confirmed association of many newly discovered rare variants with disease risk.

    • Manuel A Rivas
    • , Mélissa Beaudoin
    • , Agnes Gardet
    • , Christine Stevens
    • , Yashoda Sharma
    • , Clarence K Zhang
    • , Gabrielle Boucher
    • , Stephan Ripke
    • , David Ellinghaus
    • , Noel Burtt
    • , Tim Fennell
    • , Andrew Kirby
    • , Anna Latiano
    • , Philippe Goyette
    • , Todd Green
    • , Jonas Halfvarson
    • , Talin Haritunians
    • , Joshua M Korn
    • , Finny Kuruvilla
    • , Caroline Lagacé
    • , Benjamin Neale
    • , Ken Sin Lo
    • , Phil Schumm
    • , Leif Törkvist
    • , National Institute of Diabetes and Digestive Kidney Diseases Inflammatory Bowel Disease Genetics Consortium (NIDDK IBDGC)
    • , United Kingdom Inflammatory Bowel Disease Genetics Consortium
    • , International Inflammatory Bowel Disease Genetics Consortium
    • , Marla C Dubinsky
    • , Steven R Brant
    • , Mark S Silverberg
    • , Richard H Duerr
    • , David Altshuler
    • , Stacey Gabriel
    • , Guillaume Lettre
    • , Andre Franke
    • , Mauro D'Amato
    • , Dermot P B McGovern
    • , Judy H Cho
    • , John D Rioux
    • , Ramnik J Xavier
    •  & Mark J Daly
  • Article |

    Jim Lupski and colleagues report characterization of complex genomic rearrangements at the MECP2 and PLP1 loci. They show that all the complex rearrangement products share a common genomic organization wherein the triplicated segment is inverted and located between directly oriented duplicated genomic segments; these structures are mediated by inverted repeats that can be separated by over 300 kb.

    • Claudia M B Carvalho
    • , Melissa B Ramocki
    • , Davut Pehlivan
    • , Luis M Franco
    • , Claudia Gonzaga-Jauregui
    • , Ping Fang
    • , Alanna McCall
    • , Eniko Karman Pivnick
    • , Stacy Hines-Dowell
    • , Laurie H Seaver
    • , Linda Friehling
    • , Sansan Lee
    • , Rosemarie Smith
    • , Daniela del Gaudio
    • , Marjorie Withers
    • , Pengfei Liu
    • , Sau Wai Cheung
    • , John W Belmont
    • , Huda Y Zoghbi
    • , P J Hastings
    •  & James R Lupski
  • Article |

    Martin Tobin and colleagues report a meta-analysis of 23 genome-wide association studies for pulmonary function. They identify 16 loci newly associated with variation in two cross-sectional measures of lung function, used to define airway obstruction and to grade the severity of obstruction.

    • María Soler Artigas
    • , Daan W Loth
    • , Louise V Wain
    • , Sina A Gharib
    • , Ma'en Obeidat
    • , Wenbo Tang
    • , Guangju Zhai
    • , Jing Hua Zhao
    • , Albert Vernon Smith
    • , Jennifer E Huffman
    • , Eva Albrecht
    • , Catherine M Jackson
    • , David M Evans
    • , Gemma Cadby
    • , Myriam Fornage
    • , Ani Manichaikul
    • , Lorna M Lopez
    • , Toby Johnson
    • , Melinda C Aldrich
    • , Thor Aspelund
    • , Inês Barroso
    • , Harry Campbell
    • , Patricia A Cassano
    • , David J Couper
    • , Gudny Eiriksdottir
    • , Nora Franceschini
    • , Melissa Garcia
    • , Christian Gieger
    • , Gauti Kjartan Gislason
    • , Ivica Grkovic
    • , Christopher J Hammond
    • , Dana B Hancock
    • , Tamara B Harris
    • , Adaikalavan Ramasamy
    • , Susan R Heckbert
    • , Markku Heliövaara
    • , Georg Homuth
    • , Pirro G Hysi
    • , Alan L James
    • , Stipan Jankovic
    • , Bonnie R Joubert
    • , Stefan Karrasch
    • , Norman Klopp
    • , Beate Koch
    • , Stephen B Kritchevsky
    • , Lenore J Launer
    • , Yongmei Liu
    • , Laura R Loehr
    • , Kurt Lohman
    • , Ruth J F Loos
    • , Thomas Lumley
    • , Khalid A Al Balushi
    • , Wei Q Ang
    • , R Graham Barr
    • , John Beilby
    • , John D Blakey
    • , Mladen Boban
    • , Vesna Boraska
    • , Jonas Brisman
    • , John R Britton
    • , Guy G Brusselle
    • , Cyrus Cooper
    • , Ivan Curjuric
    • , Santosh Dahgam
    • , Ian J Deary
    • , Shah Ebrahim
    • , Mark Eijgelsheim
    • , Clyde Francks
    • , Darya Gaysina
    • , Raquel Granell
    • , Xiangjun Gu
    • , John L Hankinson
    • , Rebecca Hardy
    • , Sarah E Harris
    • , John Henderson
    • , Amanda Henry
    • , Aroon D Hingorani
    • , Albert Hofman
    • , Patrick G Holt
    • , Jennie Hui
    • , Michael L Hunter
    • , Medea Imboden
    • , Karen A Jameson
    • , Shona M Kerr
    • , Ivana Kolcic
    • , Florian Kronenberg
    • , Jason Z Liu
    • , Jonathan Marchini
    • , Tricia McKeever
    • , Andrew D Morris
    • , Anna-Carin Olin
    • , David J Porteous
    • , Dirkje S Postma
    • , Stephen S Rich
    • , Susan M Ring
    • , Fernando Rivadeneira
    • , Thierry Rochat
    • , Avan Aihie Sayer
    • , Ian Sayers
    • , Peter D Sly
    • , George Davey Smith
    • , Akshay Sood
    • , John M Starr
    • , André G Uitterlinden
    • , Judith M Vonk
    • , S Goya Wannamethee
    • , Peter H Whincup
    • , Cisca Wijmenga
    • , O Dale Williams
    • , Andrew Wong
    • , Massimo Mangino
    • , Kristin D Marciante
    • , Wendy L McArdle
    • , Bernd Meibohm
    • , Alanna C Morrison
    • , Kari E North
    • , Ernst Omenaas
    • , Lyle J Palmer
    • , Kirsi H Pietiläinen
    • , Isabelle Pin
    • , Ozren Polas̆ek
    • , Anneli Pouta
    • , Bruce M Psaty
    • , Anna-Liisa Hartikainen
    • , Taina Rantanen
    • , Samuli Ripatti
    • , Jerome I Rotter
    • , Igor Rudan
    • , Alicja R Rudnicka
    • , Holger Schulz
    • , So-Youn Shin
    • , Tim D Spector
    • , Ida Surakka
    • , Veronique Vitart
    • , Henry Völzke
    • , Nicholas J Wareham
    • , Nicole M Warrington
    • , H-Erich Wichmann
    • , Sarah H Wild
    • , Jemma B Wilk
    • , Matthias Wjst
    • , Alan F Wright
    • , Lina Zgaga
    • , Tatijana Zemunik
    • , Craig E Pennell
    • , Fredrik Nyberg
    • , Diana Kuh
    • , John W Holloway
    • , H Marike Boezen
    • , Debbie A Lawlor
    • , Richard W Morris
    • , Nicole Probst-Hensch
    • , The International Lung Cancer Consortium
    • , GIANT consortium
    • , Jaakko Kaprio
    • , James F Wilson
    • , Caroline Hayward
    • , Mika Kähönen
    • , Joachim Heinrich
    • , Arthur W Musk
    • , Deborah L Jarvis
    • , Sven Gläser
    • , Marjo-Riitta Järvelin
    • , Bruno H Ch Stricker
    • , Paul Elliott
    • , George T O'Connor
    • , David P Strachan
    • , Stephanie J London
    • , Ian P Hall
    • , Vilmundur Gudnason
    •  & Martin D Tobin
  • Article |

    Dirk Schübeler and colleagues report an experimental strategy to identify genetic elements that autonomously determine DNA methylation states in murine stem cells. They identified promoter sequences that supported proper de novo methylation during differentiation and determined that this activity is contained within small methylation-determining regions.

    • Florian Lienert
    • , Christiane Wirbelauer
    • , Indrani Som
    • , Ann Dean
    • , Fabio Mohn
    •  & Dirk Schübeler

Letters

  • Letter |

    Simon Stacey, Kari Stefansson and colleagues show that a germline variant in the TP53 polyadenylation signal is associated with increased risk of basal cell carcinoma and other solid tumors.

    • Simon N Stacey
    • , Patrick Sulem
    • , Aslaug Jonasdottir
    • , Gisli Masson
    • , Julius Gudmundsson
    • , Daniel F Gudbjartsson
    • , Olafur T Magnusson
    • , Sigurjon A Gudjonsson
    • , Bardur Sigurgeirsson
    • , Kristin Thorisdottir
    • , Rafn Ragnarsson
    • , Kristrun R Benediktsdottir
    • , Bjørn A Nexø
    • , Anne Tjønneland
    • , Kim Overvad
    • , Peter Rudnai
    • , Eugene Gurzau
    • , Kvetoslava Koppova
    • , Kari Hemminki
    • , Cristina Corredera
    • , Victoria Fuentelsaz
    • , Pilar Grasa
    • , Sebastian Navarrete
    • , Fernando Fuertes
    • , Maria D García-Prats
    • , Enrique Sanambrosio
    • , Angeles Panadero
    • , Ana De Juan
    • , Almudena Garcia
    • , Fernando Rivera
    • , Dolores Planelles
    • , Virtudes Soriano
    • , Celia Requena
    • , Katja K Aben
    • , Michelle M van Rossum
    • , Ruben G H M Cremers
    • , Inge M van Oort
    • , Dick-Johan van Spronsen
    • , Jack A Schalken
    • , Wilbert H M Peters
    • , Brian T Helfand
    • , Jenny L Donovan
    • , Freddie C Hamdy
    • , Daniel Badescu
    • , Ovidiu Codreanu
    • , Mariana Jinga
    • , Irma E Csiki
    • , Vali Constantinescu
    • , Paula Badea
    • , Ioan N Mates
    • , Daniela E Dinu
    • , Adrian Constantin
    • , Dana Mates
    • , Sjofn Kristjansdottir
    • , Bjarni A Agnarsson
    • , Eirikur Jonsson
    • , Rosa B Barkardottir
    • , Gudmundur V Einarsson
    • , Fridbjorn Sigurdsson
    • , Pall H Moller
    • , Tryggvi Stefansson
    • , Trausti Valdimarsson
    • , Oskar T Johannsson
    • , Helgi Sigurdsson
    • , Thorvaldur Jonsson
    • , Jon G Jonasson
    • , Laufey Tryggvadottir
    • , Terri Rice
    • , Helen M Hansen
    • , Yuanyuan Xiao
    • , Daniel H Lachance
    • , Brian Patrick O′Neill
    • , Matthew L Kosel
    • , Paul A Decker
    • , Gudmar Thorleifsson
    • , Hrefna Johannsdottir
    • , Hafdis T Helgadottir
    • , Asgeir Sigurdsson
    • , Valgerdur Steinthorsdottir
    • , Annika Lindblom
    • , Swedish Low-risk Colorectal Cancer Study Group
    • , Robert S Sandler
    • , Temitope O Keku
    • , Karina Banasik
    • , Torben Jørgensen
    • , Daniel R Witte
    • , Torben Hansen
    • , Oluf Pedersen
    • , Viorel Jinga
    • , David E Neal
    • , William J Catalona
    • , Margaret Wrensch
    • , John Wiencke
    • , Robert B Jenkins
    • , Eduardo Nagore
    • , Ulla Vogel
    • , Lambertus A Kiemeney
    • , Rajiv Kumar
    • , José I Mayordomo
    • , Jon H Olafsson
    • , Augustine Kong
    • , Unnur Thorsteinsdottir
    • , Thorunn Rafnar
    •  & Kari Stefansson
  • Letter |

    Using a combination of whole-genome sequencing, haplotype sharing and the genealogies of the Icelandic population, Thorunn Rafnar, Kari Stefansson and colleagues identified a rare coding mutation in the gene of a BRCA1-interacting factor, BRIP1, that confers a high relative risk of ovarian cancer.

    • Thorunn Rafnar
    • , Daniel F Gudbjartsson
    • , Patrick Sulem
    • , Aslaug Jonasdottir
    • , Asgeir Sigurdsson
    • , Adalbjorg Jonasdottir
    • , Soren Besenbacher
    • , Pär Lundin
    • , Simon N Stacey
    • , Julius Gudmundsson
    • , Olafur T Magnusson
    • , Louise le Roux
    • , Gudbjorg Orlygsdottir
    • , Hafdis T Helgadottir
    • , Hrefna Johannsdottir
    • , Arnaldur Gylfason
    • , Laufey Tryggvadottir
    • , Jon G Jonasson
    • , Ana de Juan
    • , Eugenia Ortega
    • , Jose M Ramon-Cajal
    • , Maria D García-Prats
    • , Carlos Mayordomo
    • , Angeles Panadero
    • , Fernando Rivera
    • , Katja K H Aben
    • , Anne M van Altena
    • , Leon F A G Massuger
    • , Mervi Aavikko
    • , Paula M Kujala
    • , Synnöve Staff
    • , Lauri A Aaltonen
    • , Kristrun Olafsdottir
    • , Johannes Bjornsson
    • , Augustine Kong
    • , Anna Salvarsdottir
    • , Hafsteinn Saemundsson
    • , Karl Olafsson
    • , Kristrun R Benediktsdottir
    • , Jeffrey Gulcher
    • , Gisli Masson
    • , Lambertus A Kiemeney
    • , Jose I Mayordomo
    • , Unnur Thorsteinsdottir
    •  & Kari Stefansson
  • Letter |

    Timothy Bishop and colleagues of the GenoMEL Consortium report a genome-wide association study for melanoma, identifying three new susceptibility loci.

    • Jennifer H Barrett
    • , Mark M Iles
    • , Mark Harland
    • , John C Taylor
    • , Joanne F Aitken
    • , Per Arne Andresen
    • , Lars A Akslen
    • , Bruce K Armstrong
    • , Marie-Francoise Avril
    • , Esther Azizi
    • , Bert Bakker
    • , Wilma Bergman
    • , Giovanna Bianchi-Scarrà
    • , Brigitte Bressac-de Paillerets
    • , Donato Calista
    • , Lisa A Cannon-Albright
    • , Eve Corda
    • , Anne E Cust
    • , Tadeusz Dębniak
    • , David Duffy
    • , Alison M Dunning
    • , Douglas F Easton
    • , Eitan Friedman
    • , Pilar Galan
    • , Paola Ghiorzo
    • , Graham G Giles
    • , Johan Hansson
    • , Marko Hocevar
    • , Veronica Höiom
    • , John L Hopper
    • , Christian Ingvar
    • , Bart Janssen
    • , Mark A Jenkins
    • , Göran Jönsson
    • , Richard F Kefford
    • , Giorgio Landi
    • , Maria Teresa Landi
    • , Julie Lang
    • , Jan Lubiński
    • , Rona Mackie
    • , Josep Malvehy
    • , Nicholas G Martin
    • , Anders Molven
    • , Grant W Montgomery
    • , Frans A van Nieuwpoort
    • , Srdjan Novakovic
    • , Håkan Olsson
    • , Lorenza Pastorino
    • , Susana Puig
    • , Joan Anton Puig-Butille
    • , Juliette Randerson-Moor
    • , Helen Snowden
    • , Rainer Tuominen
    • , Patricia Van Belle
    • , Nienke van der Stoep
    • , David C Whiteman
    • , Diana Zelenika
    • , Jiali Han
    • , Shenying Fang
    • , Jeffrey E Lee
    • , Qingyi Wei
    • , G Mark Lathrop
    • , Elizabeth M Gillanders
    • , Kevin M Brown
    • , Alisa M Goldstein
    • , Peter A Kanetsky
    • , Graham J Mann
    • , Stuart MacGregor
    • , David E Elder
    • , Christopher I Amos
    • , Nicholas K Hayward
    • , Nelleke A Gruis
    • , Florence Demenais
    • , Julia A Newton Bishop
    •  & D Timothy Bishop
  • Letter |

    Stuart MacGregor and colleagues report the results of a genome-wide association study for melanoma susceptibility in an Australian population. They identify a new melanoma susceptibility locus on chromosome 1.

    • Stuart MacGregor
    • , Grant W Montgomery
    • , Jimmy Z Liu
    • , Zhen Zhen Zhao
    • , Anjali K Henders
    • , Mitchell Stark
    • , Helen Schmid
    • , Elizabeth A Holland
    • , David L Duffy
    • , Mingfeng Zhang
    • , Jodie N Painter
    • , Dale R Nyholt
    • , Judith A Maskiell
    • , Jodie Jetann
    • , Megan Ferguson
    • , Anne E Cust
    • , Mark A Jenkins
    • , David C Whiteman
    • , Håkan Olsson
    • , Susana Puig
    • , Giovanna Bianchi-Scarrà
    • , Johan Hansson
    • , Florence Demenais
    • , Maria Teresa Landi
    • , Tadeusz Dębniak
    • , Rona Mackie
    • , Esther Azizi
    • , Brigitte Bressac-de Paillerets
    • , Alisa M Goldstein
    • , Peter A Kanetsky
    • , Nelleke A Gruis
    • , David E Elder
    • , Julia A Newton-Bishop
    • , D Timothy Bishop
    • , Mark M Iles
    • , Per Helsing
    • , Christopher I Amos
    • , Qingyi Wei
    • , Li-E Wang
    • , Jeffrey E Lee
    • , Abrar A Qureshi
    • , Richard F Kefford
    • , Graham G Giles
    • , Bruce K Armstrong
    • , Joanne F Aitken
    • , Jiali Han
    • , John L Hopper
    • , Jeffrey M Trent
    • , Kevin M Brown
    • , Nicholas G Martin
    • , Graham J Mann
    •  & Nicholas K Hayward
  • Letter |

    Yardena Samuels and colleagues sequenced G protein-coupled receptors in 11 melanoma samples and report a comprehensive map of somatic variants in the GPCR gene family. They find frequent mutations in GRM3, which promote proliferation and migration of melanoma cells.

    • Todd D Prickett
    • , Xiaomu Wei
    • , Isabel Cardenas-Navia
    • , Jamie K Teer
    • , Jimmy C Lin
    • , Vijay Walia
    • , Jared Gartner
    • , Jiji Jiang
    • , Praveen F Cherukuri
    • , Alfredo Molinolo
    • , Michael A Davies
    • , Jeffrey E Gershenwald
    • , Katherine Stemke-Hale
    • , Steven A Rosenberg
    • , Elliott H Margulies
    •  & Yardena Samuels
  • Letter |

    Patrick Sulem, Daniel Gudbjartsson, Bragi Walters and colleagues identify two low-frequency variants associated with serum uric acid levels and gout in the Icelandic population. The variants were discovered by whole-genome sequencing and are associated with two- to threefold differences in disease risk.

    • Patrick Sulem
    • , Daniel F Gudbjartsson
    • , G Bragi Walters
    • , Hafdis T Helgadottir
    • , Agnar Helgason
    • , Sigurjon A Gudjonsson
    • , Carlo Zanon
    • , Soren Besenbacher
    • , Gyda Bjornsdottir
    • , Olafur T Magnusson
    • , Gisli Magnusson
    • , Eirikur Hjartarson
    • , Jona Saemundsdottir
    • , Arnaldur Gylfason
    • , Adalbjorg Jonasdottir
    • , Hilma Holm
    • , Ari Karason
    • , Thorunn Rafnar
    • , Hreinn Stefansson
    • , Ole A Andreassen
    • , Jesper H Pedersen
    • , Allan I Pack
    • , Marieke C H de Visser
    • , Lambertus A Kiemeney
    • , Arni J Geirsson
    • , Gudmundur I Eyjolfsson
    • , Isleifur Olafsson
    • , Augustine Kong
    • , Gisli Masson
    • , Helgi Jonsson
    • , Unnur Thorsteinsdottir
    • , Ingileif Jonsdottir
    •  & Kari Stefansson
  • Letter |

    John Chambers and colleagues report a genome-wide association study for markers of liver function. They identify 42 loci associated with concentrations of one or more liver enzymes in plasma, and use a range of functional genomic analyses to suggest candidate genes at these loci.

    • John C Chambers
    • , Weihua Zhang
    • , Joban Sehmi
    • , Xinzhong Li
    • , Mark N Wass
    • , Pim Van der Harst
    • , Hilma Holm
    • , Serena Sanna
    • , Maryam Kavousi
    • , Sebastian E Baumeister
    • , Lachlan J Coin
    • , Guohong Deng
    • , Christian Gieger
    • , Nancy L Heard-Costa
    • , Jouke-Jan Hottenga
    • , Brigitte Kühnel
    • , Vinod Kumar
    • , Vasiliki Lagou
    • , Liming Liang
    • , Jian'an Luan
    • , Pedro Marques Vidal
    • , Irene Mateo Leach
    • , Paul F O'Reilly
    • , John F Peden
    • , Nilufer Rahmioglu
    • , Pasi Soininen
    • , Elizabeth K Speliotes
    • , Xin Yuan
    • , Gudmar Thorleifsson
    • , Behrooz Z Alizadeh
    • , Larry D Atwood
    • , Ingrid B Borecki
    • , Morris J Brown
    • , Pimphen Charoen
    • , Francesco Cucca
    • , Debashish Das
    • , Eco J C de Geus
    • , Anna L Dixon
    • , Angela Döring
    • , Georg Ehret
    • , Gudmundur I Eyjolfsson
    • , Martin Farrall
    • , Nita G Forouhi
    • , Nele Friedrich
    • , Wolfram Goessling
    • , Daniel F Gudbjartsson
    • , Tamara B Harris
    • , Anna-Liisa Hartikainen
    • , Simon Heath
    • , Gideon M Hirschfield
    • , Albert Hofman
    • , Georg Homuth
    • , Elina Hyppönen
    • , Harry L A Janssen
    • , Toby Johnson
    • , Antti J Kangas
    • , Ido P Kema
    • , Jens P Kühn
    • , Sandra Lai
    • , Mark Lathrop
    • , Markus M Lerch
    • , Yun Li
    • , T Jake Liang
    • , Jing-Ping Lin
    • , Ruth J F Loos
    • , Nicholas G Martin
    • , Miriam F Moffatt
    • , Grant W Montgomery
    • , Patricia B Munroe
    • , Kiran Musunuru
    • , Yusuke Nakamura
    • , Christopher J O'Donnell
    • , Isleifur Olafsson
    • , Brenda W Penninx
    • , Anneli Pouta
    • , Bram P Prins
    • , Inga Prokopenko
    • , Ralf Puls
    • , Aimo Ruokonen
    • , Markku J Savolainen
    • , David Schlessinger
    • , Jeoffrey N L Schouten
    • , Udo Seedorf
    • , Srijita Sen-Chowdhry
    • , Katherine A Siminovitch
    • , Johannes H Smit
    • , Timothy D Spector
    • , Wenting Tan
    • , Tanya M Teslovich
    • , Taru Tukiainen
    • , Andre G Uitterlinden
    • , Melanie M Van der Klauw
    • , Ramachandran S Vasan
    • , Chris Wallace
    • , Henri Wallaschofski
    • , H-Erich Wichmann
    • , Gonneke Willemsen
    • , Peter Würtz
    • , Chun Xu
    • , Laura M Yerges-Armstrong
    • , Alcohol Genome-wide Association (AlcGen) Consortium
    • , Diabetes Genetics Replication and Meta-analyses (DIAGRAM+) Study
    • , Genetic Investigation of Anthropometric Traits (GIANT) Consortium
    • , Global Lipids Genetics Consortium
    • , Genetics of Liver Disease (GOLD) Consortium
    • , International Consortium for Blood Pressure (ICBP-GWAS)
    • , Meta-analyses of Glucose and Insulin-Related Traits Consortium (MAGIC)
    • , Goncalo R Abecasis
    • , Kourosh R Ahmadi
    • , Dorret I Boomsma
    • , Mark Caulfield
    • , William O Cookson
    • , Cornelia M van Duijn
    • , Philippe Froguel
    • , Koichi Matsuda
    • , Mark I McCarthy
    • , Christa Meisinger
    • , Vincent Mooser
    • , Kirsi H Pietiläinen
    • , Gunter Schumann
    • , Harold Snieder
    • , Michael J E Sternberg
    • , Ronald P Stolk
    • , Howard C Thomas
    • , Unnur Thorsteinsdottir
    • , Manuela Uda
    • , Gérard Waeber
    • , Nicholas J Wareham
    • , Dawn M Waterworth
    • , Hugh Watkins
    • , John B Whitfield
    • , Jacqueline C M Witteman
    • , Bruce H R Wolffenbuttel
    • , Caroline S Fox
    • , Mika Ala-Korpela
    • , Kari Stefansson
    • , Peter Vollenweider
    • , Henry Völzke
    • , Eric E Schadt
    • , James Scott
    • , Marjo-Riitta Järvelin
    • , Paul Elliott
    •  & Jaspal S Kooner
  • Letter |

    Martin Hibberd, Cameron Simmons and colleagues report a genome-wide association study for dengue shock syndrome, a severe complication of dengue, in pediatric cases and controls from Vietnam. They identify common variants at MICB within the broad MHC region on chromosome 6 and at PLCE1 on chromosome 10 associated with dengue shock syndrome in people with dengue.

    • Chiea Chuen Khor
    • , Tran Nguyen Bich Chau
    • , Junxiong Pang
    • , Sonia Davila
    • , Hoang Truong Long
    • , Rick T H Ong
    • , Sarah J Dunstan
    • , Bridget Wills
    • , Jeremy Farrar
    • , Ta Van Tram
    • , Tran Thi Gan
    • , Nguyen Thi Nguyet Binh
    • , Le Trung Tri
    • , Le Bich Lien
    • , Nguyen Minh Tuan
    • , Nguyen Thi Hong Tham
    • , Mai Ngoc Lanh
    • , Nguyen Minh Nguyet
    • , Nguyen Trong Hieu
    • , Nguyen Van N Vinh Chau
    • , Tran Thi Thuy
    • , Dennis E K Tan
    • , Anavaj Sakuntabhai
    • , Yik-Ying Teo
    • , Martin L Hibberd
    •  & Cameron P Simmons
  • Letter |

    Shireen Lamandé and colleagues report mutations in TRPV4 in familial digital arthropathy-brachydactyly (FDAB), which is characterized by osteoarthropathy of the fingers and toes. TRPV4 is a cation channel, and functional experiments suggest mutant proteins are not localized properly to the cell surface.

    • Shireen R Lamandé
    • , Yuan Yuan
    • , Irma L Gresshoff
    • , Lynn Rowley
    • , Daniele Belluoccio
    • , Kumara Kaluarachchi
    • , Christopher B Little
    • , Elke Botzenhart
    • , Klaus Zerres
    • , David J Amor
    • , William G Cole
    • , Ravi Savarirayan
    • , Peter McIntyre
    •  & John F Bateman
  • Letter |

    Fanni Gergely, Geoffrey Woods and colleagues identify a disease-associated CEP63 mutation in a family with primary microcephaly. They further show that CEP63 and CEP152 interact and form a discrete ring around the proximal end of the parental centriole, implicating this complex in the regulation of centrosome number.

    • Joo-Hee Sir
    • , Alexis R Barr
    • , Adeline K Nicholas
    • , Ofelia P Carvalho
    • , Maryam Khurshid
    • , Alex Sossick
    • , Stefanie Reichelt
    • , Clive D'Santos
    • , C Geoffrey Woods
    •  & Fanni Gergely
  • Letter |

    Vincent Lynch and colleagues report the transcriptional landscapes of endometrial stromal cells from placental and marsupial mammals and identify 1,532 genes that are expressed in human and armadillo but not opossum. The authors suggest these genes were recruited into endometrial stromal cells during the evolution of pregnancy in placental mammals. Thirteen percent of these genes are located within 200 kb of a MER20 transposable element, and functional experiments show that MER20 elements regulate endometrial-specific gene expression response to progesterone and cAMP.

    • Vincent J Lynch
    • , Robert D Leclerc
    • , Gemma May
    •  & Günter P Wagner
  • Letter |

    John Doebley and colleagues have identified a transposon insertion in the maize domestication gene, tb1, that acts as a regulatory enhancer. The transposon insertion appears to be a causative variant that partially explains major changes in plant architecture during maize domestication.

    • Anthony Studer
    • , Qiong Zhao
    • , Jeffrey Ross-Ibarra
    •  & John Doebley

Corrigenda

  • Corrigendum |

    • Iris M Heid
    • , Anne U Jackson
    • , Joshua C Randall
    • , Thomas W Winkler
    • , Lu Qi
    • , Valgerdur Steinthorsdottir
    • , Gudmar Thorleifsson
    • , M Carola Zillikens
    • , Elizabeth K Speliotes
    • , Reedik Mägi
    • , Tsegaselassie Workalemahu
    • , Charles C White
    • , Nabila Bouatia-Naji
    • , Tamara B Harris
    • , Sonja I Berndt
    • , Erik Ingelsson
    • , Cristen J Willer
    • , Michael N Weedon
    • , Jian'an Luan
    • , Sailaja Vedantam
    • , Tõnu Esko
    • , Tuomas O Kilpeläinen
    • , Zoltán Kutalik
    • , Shengxu Li
    • , Keri L Monda
    • , Anna L Dixon
    • , Christopher C Holmes
    • , Lee M Kaplan
    • , Liming Liang
    • , Josine L Min
    • , Miriam F Moffatt
    • , Cliona Molony
    • , George Nicholson
    • , Eric E Schadt
    • , Krina T Zondervan
    • , Mary F Feitosa
    • , Teresa Ferreira
    • , Hana Lango Allen
    • , Robert J Weyant
    • , Eleanor Wheeler
    • , Andrew R Wood
    • , Karol Estrada
    • , Michael E Goddard
    • , Guillaume Lettre
    • , Massimo Mangino
    • , Dale R Nyholt
    • , Shaun Purcell
    • , Albert Vernon Smith
    • , Peter M Visscher
    • , Jian Yang
    • , Steven A McCarroll
    • , James Nemesh
    • , Benjamin F Voight
    • , Devin Absher
    • , Najaf Amin
    • , Thor Aspelund
    • , Lachlan Coin
    • , Nicole L Glazer
    • , Caroline Hayward
    • , Nancy L Heard-Costa
    • , Jouke-Jan Hottenga
    • , Åsa Johansson
    • , Toby Johnson
    • , Marika Kaakinen
    • , Karen Kapur
    • , Shamika Ketkar
    • , Joshua W Knowles
    • , Peter Kraft
    • , Aldi T Kraja
    • , Claudia Lamina
    • , Michael F Leitzmann
    • , Barbara McKnight
    • , Andrew P Morris
    • , Ken K Ong
    • , John R B Perry
    • , Marjolein J Peters
    • , Ozren Polasek
    • , Inga Prokopenko
    • , Nigel W Rayner
    • , Samuli Ripatti
    • , Fernando Rivadeneira
    • , Neil R Robertson
    • , Serena Sanna
    • , Ulla Sovio
    • , Ida Surakka
    • , Alexander Teumer
    • , Sophie van Wingerden
    • , Veronique Vitart
    • , Jing Hua Zhao
    • , Christine Cavalcanti-Proença
    • , Peter S Chines
    • , Eva Fisher
    • , Jennifer R Kulzer
    • , Cecile Lecoeur
    • , Narisu Narisu
    • , Camilla Sandholt
    • , Laura J Scott
    • , Kaisa Silander
    • , Klaus Stark
    • , Mari-Liis Tammesoo
    • , Tanya M Teslovich
    • , Nicholas John Timpson
    • , Richard M Watanabe
    • , Ryan Welch
    • , Daniel I Chasman
    • , Matthew N Cooper
    • , John-Olov Jansson
    • , Johannes Kettunen
    • , Robert W Lawrence
    • , Niina Pellikka
    • , Markus Perola
    • , Liesbeth Vandenput
    • , Helene Alavere
    • , Peter Almgren
    • , Larry D Atwood
    • , Amanda J Bennett
    • , Reiner Biffar
    • , Lori L Bonnycastle
    • , Stefan R Bornstein
    • , Thomas A Buchanan
    • , Harry Campbell
    • , Ian N M Day
    • , Mariano Dei
    • , Marcus Dörr
    • , Paul Elliott
    • , Michael R Erdos
    • , Johan G Eriksson
    • , Nelson B Freimer
    • , Mao Fu
    • , Stefan Gaget
    • , Eco J C Geus
    • , Anette P Gjesing
    • , Harald Grallert
    • , Jürgen Gräßler
    • , Christopher J Groves
    • , Candace Guiducci
    • , Anna-Liisa Hartikainen
    • , Neelam Hassanali
    • , Aki S Havulinna
    • , Karl-Heinz Herzig
    • , Andrew A Hicks
    • , Jennie Hui
    • , Wilmar Igl
    • , Pekka Jousilahti
    • , Antti Jula
    • , Eero Kajantie
    • , Leena Kinnunen
    • , Ivana Kolcic
    • , Seppo Koskinen
    • , Peter Kovacs
    • , Heyo K Kroemer
    • , Vjekoslav Krzelj
    • , Johanna Kuusisto
    • , Kirsti Kvaloy
    • , Jaana Laitinen
    • , Olivier Lantieri
    • , G Mark Lathrop
    • , Marja-Liisa Lokki
    • , Robert N Luben
    • , Barbara Ludwig
    • , Wendy L McArdle
    • , Anne McCarthy
    • , Mario A Morken
    • , Mari Nelis
    • , Matt J Neville
    • , Guillaume Paré
    • , Alex N Parker
    • , John F Peden
    • , Irene Pichler
    • , Kirsi H Pietiläinen
    • , Carl G P Platou
    • , Anneli Pouta
    • , Martin Ridderstråle
    • , Nilesh J Samani
    • , Jouko Saramies
    • , Juha Sinisalo
    • , Jan H Smit
    • , Rona J Strawbridge
    • , Heather M Stringham
    • , Amy J Swift
    • , Maris Teder-Laving
    • , Brian Thomson
    • , Gianluca Usala
    • , Joyce B J van Meurs
    • , Gert-Jan van Ommen
    • , Vincent Vatin
    • , Claudia B Volpato
    • , Henri Wallaschofski
    • , G Bragi Walters
    • , Elisabeth Widen
    • , Sarah H Wild
    • , Gonneke Willemsen
    • , Daniel R Witte
    • , Lina Zgaga
    • , Paavo Zitting
    • , John P Beilby
    • , Alan L James
    • , Mika Kähönen
    • , Terho Lehtimäki
    • , Markku S Nieminen
    • , Claes Ohlsson
    • , Lyle J Palmer
    • , Olli Raitakari
    • , Paul M Ridker
    • , Michael Stumvoll
    • , Anke Tönjes
    • , Jorma Viikari
    • , Beverley Balkau
    • , Yoav Ben-Shlomo
    • , Richard N Bergman
    • , Heiner Boeing
    • , George Davey Smith
    • , Shah Ebrahim
    • , Philippe Froguel
    • , Torben Hansen
    • , Christian Hengstenberg
    • , Kristian Hveem
    • , Bo Isomaa
    • , Torben Jørgensen
    • , Fredrik Karpe
    • , Kay-Tee Khaw
    • , Markku Laakso
    • , Debbie A Lawlor
    • , Michel Marre
    • , Thomas Meitinger
    • , Andres Metspalu
    • , Kristian Midthjell
    • , Oluf Pedersen
    • , Veikko Salomaa
    • , Peter E H Schwarz
    • , Tiinamaija Tuomi
    • , Jaakko Tuomilehto
    • , Timo T Valle
    • , Nicholas J Wareham
    • , Alice M Arnold
    • , Jacques S Beckmann
    • , Sven Bergmann
    • , Eric Boerwinkle
    • , Dorret I Boomsma
    • , Mark J Caulfield
    • , Francis S Collins
    • , Gudny Eiriksdottir
    • , Vilmundur Gudnason
    • , Ulf Gyllensten
    • , Anders Hamsten
    • , Andrew T Hattersley
    • , Albert Hofman
    • , Frank B Hu
    • , Thomas Illig
    • , Carlos Iribarren
    • , Marjo-Riitta Jarvelin
    • , W H Linda Kao
    • , Jaakko Kaprio
    • , Lenore J Launer
    • , Patricia B Munroe
    • , Ben Oostra
    • , Brenda W Penninx
    • , Peter P Pramstaller
    • , Bruce M Psaty
    • , Thomas Quertermous
    • , Aila Rissanen
    • , Igor Rudan
    • , Alan R Shuldiner
    • , Nicole Soranzo
    • , Timothy D Spector
    • , Ann-Christine Syvanen
    • , Manuela Uda
    • , André Uitterlinden
    • , Henry Völzke
    • , Peter Vollenweider
    • , James F Wilson
    • , Jacqueline C Witteman
    • , Alan F Wright
    • , Gonçalo R Abecasis
    • , Michael Boehnke
    • , Ingrid B Borecki
    • , Panos Deloukas
    • , Timothy M Frayling
    • , Leif C Groop
    • , Talin Haritunians
    • , David J Hunter
    • , Robert C Kaplan
    • , Kari E North
    • , Jeffrey R O'Connell
    • , Leena Peltonen
    • , David Schlessinger
    • , David P Strachan
    • , Joel N Hirschhorn
    • , Themistocles L Assimes
    • , H-Erich Wichmann
    • , Unnur Thorsteinsdottir
    • , Cornelia M van Duijn
    • , Kari Stefansson
    • , L Adrienne Cupples
    • , Ruth J F Loos
    • , Inês Barroso
    • , Mark I McCarthy
    • , Caroline S Fox
    • , Karen L Mohlke
    •  & Cecilia M Lindgren
  • Corrigendum |

    • George F Mells
    • , James A B Floyd
    • , Katherine I Morley
    • , Heather J Cordell
    • , Christopher S Franklin
    • , So-Youn Shin
    • , Michael A Heneghan
    • , James M Neuberger
    • , Peter T Donaldson
    • , Darren B Day
    • , Samantha J Ducker
    • , Agnes W Muriithi
    • , Elizabeth F Wheater
    • , Christopher J Hammond
    • , Muhammad F Dawwas
    • , David E Jones
    • , Leena Peltonen
    • , Graeme J Alexander
    • , Richard N Sandford
    •  & Carl A Anderson