Volume 43 Issue 10, October 2011

Volume 43 Issue 10

Cover art: Fabric of Life Series - Ecological Symmetries Parantica aspasia DMPR-1X1a by John Arabolos University of New Haven http://arabolosart.com/

Editorial

  • Editorial |

    Fostering scientific progress and ensuring that the community has access to human exome data can be difficult to do when faced with the divergent interests of patients, data generators, data funders and potential data users. We support the archiving of sensitive datasets in secure repositories with appropriate mechanisms in place to control access.

News and Views

  • News & Views |

    Two new studies take distinct population genetic approaches to analyzing whole-genome sequencing data sets in order to estimate human demographic parameters. These papers refine our understanding of the relationships among human populations while illustrating both the possibilities and the statistical challenges of fitting demographic models to whole-genome data sets.

    • Jonathan K Pritchard
  • News & Views |

    Two new studies describe germline mutations in BAP1 in putatively dissimilar cancer-related syndromes. The spectrum of neoplasms associated with these germline mutations suggest that BAP1 has an important tumor suppressor function in multiple tissues.

    • Alisa M Goldstein
  • News & Views |

    Several new studies report mutations in the gene GATA2 in three different familial syndromes characterized by predisposition to myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). Before the onset of MDS and AML, patients with similar GATA2 mutations had distinct hematological abnormalities.

    • R. Katherine Hyde
    •  & P. Paul Liu

Research Highlights

Brief Communication

  • Brief Communication |

    Sahar Mansour and colleagues report alterations in the transcription factor GATA2 in eight pedigrees with Emberger disorder, which is characterized by primary lymphedema and predispositon to acute myeloid leukemia. Most of the heterozygous variants lead to frameshift mutations and premature termination of GATA2.

    • Pia Ostergaard
    • , Michael A Simpson
    • , Fiona C Connell
    • , Colin G Steward
    • , Glen Brice
    • , Wesley J Woollard
    • , Dimitra Dafou
    • , Tatjana Kilo
    • , Sarah Smithson
    • , Peter Lunt
    • , Victoria A Murday
    • , Shirley Hodgson
    • , Russell Keenan
    • , Daniela T Pilz
    • , Ines Martinez-Corral
    • , Taija Makinen
    • , Peter S Mortimer
    • , Steve Jeffery
    • , Richard C Trembath
    •  & Sahar Mansour

Articles

  • Article |

    João Barata and colleagues identify somatic gain-of-function IL7R mutations in childhood T-cell acute lymphoblastic leukemia. The mutations result in constitutive receptor activation, implicating the IL-7R pathway as a potential therapeutic target in a subset of T-ALL cases.

    • Priscila P Zenatti
    • , Daniel Ribeiro
    • , Wenqing Li
    • , Linda Zuurbier
    • , Milene C Silva
    • , Maddalena Paganin
    • , Julia Tritapoe
    • , Julie A Hixon
    • , André B Silveira
    • , Bruno A Cardoso
    • , Leonor M Sarmento
    • , Nádia Correia
    • , Maria L Toribio
    • , Jörg Kobarg
    • , Martin Horstmann
    • , Rob Pieters
    • , Silvia R Brandalise
    • , Adolfo A Ferrando
    • , Jules P Meijerink
    • , Scott K Durum
    • , J Andrés Yunes
    •  & João T Barata
  • Article |

    Joshua Bis, Christopher O'Donnell and colleagues report a meta-analysis of genome-wide association studies from the CHARGE Consortium that identifies loci associated with carotid intima media thickness and plaque. These are established measures of subclinical atherosclerosis that predict future cardiovascular disease events.

    • Joshua C Bis
    • , Maryam Kavousi
    • , Nora Franceschini
    • , Aaron Isaacs
    • , Gonçalo R Abecasis
    • , Ulf Schminke
    • , Wendy S Post
    • , Albert V Smith
    • , L Adrienne Cupples
    • , Hugh S Markus
    • , Reinhold Schmidt
    • , Jennifer E Huffman
    • , Terho Lehtimäki
    • , Jens Baumert
    • , Thomas Münzel
    • , Susan R Heckbert
    • , Abbas Dehghan
    • , Kari North
    • , Ben Oostra
    • , Steve Bevan
    • , Eva-Maria Stoegerer
    • , Caroline Hayward
    • , Olli Raitakari
    • , Christa Meisinger
    • , Arne Schillert
    • , Serena Sanna
    • , Henry Völzke
    • , Yu-Ching Cheng
    • , Bolli Thorsson
    • , Caroline S Fox
    • , Kenneth Rice
    • , Fernando Rivadeneira
    • , Vijay Nambi
    • , Eran Halperin
    • , Katja E Petrovic
    • , Leena Peltonen
    • , H Erich Wichmann
    • , Renate B Schnabel
    • , Marcus Dörr
    • , Afshin Parsa
    • , Thor Aspelund
    • , Serkalem Demissie
    • , Sekar Kathiresan
    • , Muredach P Reilly
    • , the CARDIoGRAM Consortium
    • , Kent Taylor
    • , Andre Uitterlinden
    • , David J Couper
    • , Matthias Sitzer
    • , Mika Kähönen
    • , Thomas Illig
    • , Philipp S Wild
    • , Marco Orru
    • , Jan Lüdemann
    • , Alan R Shuldiner
    • , Gudny Eiriksdottir
    • , Charles C White
    • , Jerome I Rotter
    • , Albert Hofman
    • , Jochen Seissler
    • , Tanja Zeller
    • , Gianluca Usala
    • , Florian Ernst
    • , Lenore J Launer
    • , Ralph B D'Agostino Sr
    • , Daniel H O'Leary
    • , Christie Ballantyne
    • , Joachim Thiery
    • , Andreas Ziegler
    • , Edward G Lakatta
    • , Ravi Kumar Chilukoti
    • , Tamara B Harris
    • , Philip A Wolf
    • , Bruce M Psaty
    • , Joseph F Polak
    • , Xia Li
    • , Wolfgang Rathmann
    • , Manuela Uda
    • , Eric Boerwinkle
    • , Norman Klopp
    • , Helena Schmidt
    • , James F Wilson
    • , Jorma Viikari
    • , Wolfgang Koenig
    • , Stefan Blankenberg
    • , Anne B Newman
    • , Jacqueline Witteman
    • , Gerardo Heiss
    • , Cornelia van Duijn
    • , Angelo Scuteri
    • , Georg Homuth
    • , Braxton D Mitchell
    • , Vilmundur Gudnason
    •  & Christopher J O'Donnell
  • Article |

    Duncan Odom and colleagues map Pol III occupancy genome-wide in liver tissue from six mammals. The analysis showed variable binding of Pol III at individual tRNA genes that nevertheless led to conserved expression of amino acid isotypes.

    • Claudia Kutter
    • , Gordon D Brown
    • , Ângela Gonçalves
    • , Michael D Wilson
    • , Stephen Watt
    • , Alvis Brazma
    • , Robert J White
    •  & Duncan T Odom
  • Article |

    Detlef Weigel and colleagues report results from the first phase of the Arabidopsis 1001 Genomes Project, based on short-read sequencing of 80 geographically diverse strains. This collection of strains has been made available to the scientific community, and the authors show that the identified polymorphisms in these strains can be useful for imputation and genome-wide association studies.

    • Jun Cao
    • , Korbinian Schneeberger
    • , Stephan Ossowski
    • , Torsten Günther
    • , Sebastian Bender
    • , Joffrey Fitz
    • , Daniel Koenig
    • , Christa Lanz
    • , Oliver Stegle
    • , Christoph Lippert
    • , Xi Wang
    • , Felix Ott
    • , Jonas Müller
    • , Carlos Alonso-Blanco
    • , Karsten Borgwardt
    • , Karl J Schmid
    •  & Detlef Weigel

Letters

  • Letter |

    Matthew Meyerson and colleagues report the whole-genome sequencing of primary colorectal tumors and matched adjacent non-tumor tissue from nine individuals with colorectal cancer. They identify a recurrent VTI1A-TCF7L2 fusion in 3% of colorectal cancers.

    • Adam J Bass
    • , Michael S Lawrence
    • , Lear E Brace
    • , Alex H Ramos
    • , Yotam Drier
    • , Kristian Cibulskis
    • , Carrie Sougnez
    • , Douglas Voet
    • , Gordon Saksena
    • , Andrey Sivachenko
    • , Rui Jing
    • , Melissa Parkin
    • , Trevor Pugh
    • , Roel G Verhaak
    • , Nicolas Stransky
    • , Adam T Boutin
    • , Jordi Barretina
    • , David B Solit
    • , Evi Vakiani
    • , Wenlin Shao
    • , Yuji Mishina
    • , Markus Warmuth
    • , Jose Jimenez
    • , Derek Y Chiang
    • , Sabina Signoretti
    • , William G Kaelin
    • , Nicole Spardy
    • , William C Hahn
    • , Yujin Hoshida
    • , Shuji Ogino
    • , Ronald A DePinho
    • , Lynda Chin
    • , Levi A Garraway
    • , Charles S Fuchs
    • , Jose Baselga
    • , Josep Tabernero
    • , Stacey Gabriel
    • , Eric S Lander
    • , Gad Getz
    •  & Matthew Meyerson
  • Letter |

    The Schizophrenia Psychiatric Genome-Wide Association Study Consortium reports five genetic loci newly associated with risk of schizophrenia, involving 17,836 cases of schizophrenia and 33,859 healthy controls. The new locus with the strongest support of association was located within an intron for microRNA 137, a known regulator of neuronal development. Four other genome-wide significant loci for schizophrenia contain predicted targets of MIR137, suggesting that disruption to pathways involving MIR137 may be an etiologic mechanism in schizophrenia.

    • The Schizophrenia Psychiatric Genome-Wide Association Study (GWAS) Consortium
    • , Stephan Ripke
    • , Alan R Sanders
    • , Kenneth S Kendler
    • , Douglas F Levinson
    • , Pamela Sklar
    • , Peter A Holmans
    • , Dan-Yu Lin
    • , Jubao Duan
    • , Roel A Ophoff
    • , Ole A Andreassen
    • , Edward Scolnick
    • , Sven Cichon
    • , David St. Clair
    • , Aiden Corvin
    • , Hugh Gurling
    • , Thomas Werge
    • , Dan Rujescu
    • , Douglas H R Blackwood
    • , Carlos N Pato
    • , Anil K Malhotra
    • , Shaun Purcell
    • , Frank Dudbridge
    • , Benjamin M Neale
    • , Lizzy Rossin
    • , Peter M Visscher
    • , Danielle Posthuma
    • , Douglas M Ruderfer
    • , Ayman Fanous
    • , Hreinn Stefansson
    • , Stacy Steinberg
    • , Bryan J Mowry
    • , Vera Golimbet
    • , Marc De Hert
    • , Erik G Jönsson
    • , István Bitter
    • , Olli P H Pietiläinen
    • , David A Collier
    • , Sarah Tosato
    • , Ingrid Agartz
    • , Margot Albus
    • , Madeline Alexander
    • , Richard L Amdur
    • , Farooq Amin
    • , Nicholas Bass
    • , Sarah E Bergen
    • , Donald W Black
    • , Anders D Børglum
    • , Matthew A Brown
    • , Richard Bruggeman
    • , Nancy G Buccola
    • , William F Byerley
    • , Wiepke Cahn
    • , Rita M Cantor
    • , Vaughan J Carr
    • , Stanley V Catts
    • , Khalid Choudhury
    • , C Robert Cloninger
    • , Paul Cormican
    • , Nicholas Craddock
    • , Patrick A Danoy
    • , Susmita Datta
    • , Lieuwe de Haan
    • , Ditte Demontis
    • , Dimitris Dikeos
    • , Srdjan Djurovic
    • , Peter Donnelly
    • , Gary Donohoe
    • , Linh Duong
    • , Sarah Dwyer
    • , Anders Fink-Jensen
    • , Robert Freedman
    • , Nelson B Freimer
    • , Marion Friedl
    • , Lyudmila Georgieva
    • , Ina Giegling
    • , Michael Gill
    • , Birte Glenthøj
    • , Stephanie Godard
    • , Marian Hamshere
    • , Mark Hansen
    • , Thomas Hansen
    • , Annette M Hartmann
    • , Frans A Henskens
    • , David M Hougaard
    • , Christina M Hultman
    • , Andrés Ingason
    • , Assen V Jablensky
    • , Klaus D Jakobsen
    • , Maurice Jay
    • , Gesche Jürgens
    • , René S Kahn
    • , Matthew C Keller
    • , Gunter Kenis
    • , Elaine Kenny
    • , Yunjung Kim
    • , George K Kirov
    • , Heike Konnerth
    • , Bettina Konte
    • , Lydia Krabbendam
    • , Robert Krasucki
    • , Virginia K Lasseter
    • , Claudine Laurent
    • , Jacob Lawrence
    • , Todd Lencz
    • , F Bernard Lerer
    • , Kung-Yee Liang
    • , Paul Lichtenstein
    • , Jeffrey A Lieberman
    • , Don H Linszen
    • , Jouko Lönnqvist
    • , Carmel M Loughland
    • , Alan W Maclean
    • , Brion S Maher
    • , Wolfgang Maier
    • , Jacques Mallet
    • , Pat Malloy
    • , Manuel Mattheisen
    • , Morten Mattingsdal
    • , Kevin A McGhee
    • , John J McGrath
    • , Andrew McIntosh
    • , Duncan E McLean
    • , Andrew McQuillin
    • , Ingrid Melle
    • , Patricia T Michie
    • , Vihra Milanova
    • , Derek W Morris
    • , Ole Mors
    • , Preben B Mortensen
    • , Valentina Moskvina
    • , Pierandrea Muglia
    • , Inez Myin-Germeys
    • , Deborah A Nertney
    • , Gerald Nestadt
    • , Jimmi Nielsen
    • , Ivan Nikolov
    • , Merete Nordentoft
    • , Nadine Norton
    • , Markus M Nöthen
    • , Colm T O'Dushlaine
    • , Ann Olincy
    • , Line Olsen
    • , F Anthony O'Neill
    • , Torben F Ørntoft
    • , Michael J Owen
    • , Christos Pantelis
    • , George Papadimitriou
    • , Michele T Pato
    • , Leena Peltonen
    • , Hannes Petursson
    • , Ben Pickard
    • , Jonathan Pimm
    • , Ann E Pulver
    • , Vinay Puri
    • , Digby Quested
    • , Emma M Quinn
    • , Henrik B Rasmussen
    • , János M Réthelyi
    • , Robert Ribble
    • , Marcella Rietschel
    • , Brien P Riley
    • , Mirella Ruggeri
    • , Ulrich Schall
    • , Thomas G Schulze
    • , Sibylle G Schwab
    • , Rodney J Scott
    • , Jianxin Shi
    • , Engilbert Sigurdsson
    • , Jeremy M Silverman
    • , Chris C A Spencer
    • , Kari Stefansson
    • , Amy Strange
    • , Eric Strengman
    • , T Scott Stroup
    • , Jaana Suvisaari
    • , Lars Terenius
    • , Srinivasa Thirumalai
    • , Johan H Thygesen
    • , Sally Timm
    • , Draga Toncheva
    • , Edwin van den Oord
    • , Jim van Os
    • , Ruud van Winkel
    • , Jan Veldink
    • , Dermot Walsh
    • , August G Wang
    • , Durk Wiersma
    • , Dieter B Wildenauer
    • , Hywel J Williams
    • , Nigel M Williams
    • , Brandon Wormley
    • , Stan Zammit
    • , Patrick F Sullivan
    • , Michael C O'Donovan
    • , Mark J Daly
    •  & Pablo V Gejman
  • Letter |

    The Psychiatric GWAS Consortium Bipolar Disorder Working Group reports a large-scale genome-wide association study of 7,481 individuals with bipolar disorder with replication in 4,493 cases. The Consortium identifies a new susceptibility locus near ODZ4 and replicates a known association near CACNA1C for bipolar disorder.

    • Psychiatric GWAS Consortium Bipolar Disorder Working Group
    • , Pamela Sklar
    • , Stephan Ripke
    • , Laura J Scott
    • , Ole A Andreassen
    • , Sven Cichon
    • , Nick Craddock
    • , Howard J Edenberg
    • , John I Nurnberger Jr
    • , Marcella Rietschel
    • , Douglas Blackwood
    • , Aiden Corvin
    • , Matthew Flickinger
    • , Weihua Guan
    • , Morten Mattingsdal
    • , Andrew McQuillin
    • , Phoenix Kwan
    • , Thomas F Wienker
    • , Mark Daly
    • , Frank Dudbridge
    • , Peter A Holmans
    • , Danyu Lin
    • , Margit Burmeister
    • , Tiffany A Greenwood
    • , Marian L Hamshere
    • , Pierandrea Muglia
    • , Erin N Smith
    • , Peter P Zandi
    • , Caroline M Nievergelt
    • , Rebecca McKinney
    • , Paul D Shilling
    • , Nicholas J Schork
    • , Cinnamon S Bloss
    • , Tatiana Foroud
    • , Daniel L Koller
    • , Elliot S Gershon
    • , Chunyu Liu
    • , Judith A Badner
    • , William A Scheftner
    • , William B Lawson
    • , Evaristus A Nwulia
    • , Maria Hipolito
    • , William Coryell
    • , John Rice
    • , William Byerley
    • , Francis J McMahon
    • , Thomas G Schulze
    • , Wade Berrettini
    • , Falk W Lohoff
    • , James B Potash
    • , Pamela B Mahon
    • , Melvin G McInnis
    • , Sebastian Zöllner
    • , Peng Zhang
    • , David W Craig
    • , Szabocls Szelinger
    • , Thomas B Barrett
    • , René Breuer
    • , Sandra Meier
    • , Jana Strohmaier
    • , Stephanie H Witt
    • , Federica Tozzi
    • , Anne Farmer
    • , Peter McGuffin
    • , John Strauss
    • , Wei Xu
    • , James L Kennedy
    • , John B Vincent
    • , Keith Matthews
    • , Richard Day
    • , Manuel A Ferreira
    • , Colm O'Dushlaine
    • , Roy Perlis
    • , Soumya Raychaudhuri
    • , Douglas Ruderfer
    • , Phil H Lee
    • , Jordan W Smoller
    • , Jun Li
    • , Devin Absher
    • , William E Bunney
    • , Jack D Barchas
    • , Alan F Schatzberg
    • , Edward G Jones
    • , Fan Meng
    • , Robert C Thompson
    • , Stanley J Watson
    • , Richard M Myers
    • , Huda Akil
    • , Michael Boehnke
    • , Kim Chambert
    • , Jennifer Moran
    • , Ed Scolnick
    • , Srdjan Djurovic
    • , Ingrid Melle
    • , Gunnar Morken
    • , Michael Gill
    • , Derek Morris
    • , Emma Quinn
    • , Thomas W Mühleisen
    • , Franziska A Degenhardt
    • , Manuel Mattheisen
    • , Johannes Schumacher
    • , Wolfgang Maier
    • , Michael Steffens
    • , Peter Propping
    • , Markus M Nöthen
    • , Adebayo Anjorin
    • , Nick Bass
    • , Hugh Gurling
    • , Radhika Kandaswamy
    • , Jacob Lawrence
    • , Kevin McGhee
    • , Andrew McIntosh
    • , Alan W McLean
    • , Walter J Muir
    • , Benjamin S Pickard
    • , Gerome Breen
    • , David St. Clair
    • , Sian Caesar
    • , Katherine Gordon-Smith
    • , Lisa Jones
    • , Christine Fraser
    • , Elaine K Green
    • , Detelina Grozeva
    • , Ian R Jones
    • , George Kirov
    • , Valentina Moskvina
    • , Ivan Nikolov
    • , Michael C O'Donovan
    • , Michael J Owen
    • , David A Collier
    • , Amanda Elkin
    • , Richard Williamson
    • , Allan H Young
    • , I Nicol Ferrier
    • , Kari Stefansson
    • , Hreinn Stefansson
    • , Þorgeir Þorgeirsson
    • , Stacy Steinberg
    • , Ómar Gustafsson
    • , Sarah E Bergen
    • , Vishwajit Nimgaonkar
    • , Christina Hultman
    • , Mikael Landén
    • , Paul Lichtenstein
    • , Patrick Sullivan
    • , Martin Schalling
    • , Urban Osby
    • , Lena Backlund
    • , Louise Frisén
    • , Niklas Langstrom
    • , Stéphane Jamain
    • , Marion Leboyer
    • , Bruno Etain
    • , Frank Bellivier
    • , Hannes Petursson
    • , Engilbert Sigur∂sson
    • , Bertram Müller-Mysok
    • , Susanne Lucae
    • , Markus Schwarz
    • , Janice M Fullerton
    • , Peter R Schofield
    • , Nick Martin
    • , Grant W Montgomery
    • , Mark Lathrop
    • , Högni Óskarsson
    • , Michael Bauer
    • , Adam Wright
    • , Philip B Mitchell
    • , Martin Hautzinger
    • , Andreas Reif
    • , John R Kelsoe
    •  & Shaun M Purcell
  • Letter |

    John Chambers and colleagues report a genome-wide association study for type 2 diabetes in individuals of south Asian ancestry. They identify six loci newly associated with type 2 diabetes.

    • Jaspal S Kooner
    • , Danish Saleheen
    • , Xueling Sim
    • , Joban Sehmi
    • , Weihua Zhang
    • , Philippe Frossard
    • , Latonya F Been
    • , Kee-Seng Chia
    • , Antigone S Dimas
    • , Neelam Hassanali
    • , Tazeen Jafar
    • , Jeremy B M Jowett
    • , Xinzhong Li
    • , Venkatesan Radha
    • , Simon D Rees
    • , Fumihiko Takeuchi
    • , Robin Young
    • , Tin Aung
    • , Abdul Basit
    • , Manickam Chidambaram
    • , Debashish Das
    • , Elin Grundberg
    • , Åsa K Hedman
    • , Zafar I Hydrie
    • , Muhammed Islam
    • , Chiea-Chuen Khor
    • , Sudhir Kowlessur
    • , Malene M Kristensen
    • , Samuel Liju
    • , Wei-Yen Lim
    • , David R Matthews
    • , Jianjun Liu
    • , Andrew P Morris
    • , Alexandra C Nica
    • , Janani M Pinidiyapathirage
    • , Inga Prokopenko
    • , Asif Rasheed
    • , Maria Samuel
    • , Nabi Shah
    • , A Samad Shera
    • , Kerrin S Small
    • , Chen Suo
    • , Ananda R Wickremasinghe
    • , Tien Yin Wong
    • , Mingyu Yang
    • , Fan Zhang
    • , DIAGRAM
    • , MuTHER
    • , Goncalo R Abecasis
    • , Anthony H Barnett
    • , Mark Caulfield
    • , Panos Deloukas
    • , Timothy M Frayling
    • , Philippe Froguel
    • , Norihiro Kato
    • , Prasad Katulanda
    • , M Ann Kelly
    • , Junbin Liang
    • , Viswanathan Mohan
    • , Dharambir K Sanghera
    • , James Scott
    • , Mark Seielstad
    • , Paul Z Zimmet
    • , Paul Elliott
    • , Yik Ying Teo
    • , Mark I McCarthy
    • , John Danesh
    • , E Shyong Tai
    •  & John C Chambers
  • Letter |

    Yoon Shin Cho and colleagues report a genome-wide association study for nine metabolic traits in east Asians. They identify ten new loci that are associated with these traits.

    • Young Jin Kim
    • , Min Jin Go
    • , Cheng Hu
    • , Chang Bum Hong
    • , Yun Kyoung Kim
    • , Ji Young Lee
    • , Joo-Yeon Hwang
    • , Ji Hee Oh
    • , Dong-Joon Kim
    • , Nam Hee Kim
    • , Soeui Kim
    • , Eun Jung Hong
    • , Ji-Hyun Kim
    • , Haesook Min
    • , Yeonjung Kim
    • , Rong Zhang
    • , Weiping Jia
    • , Yukinori Okada
    • , Atsushi Takahashi
    • , Michiaki Kubo
    • , Toshihiro Tanaka
    • , Naoyuki Kamatani
    • , Koichi Matsuda
    • , MAGIC consortium
    • , Taesung Park
    • , Bermseok Oh
    • , Kuchan Kimm
    • , Daehee Kang
    • , Chol Shin
    • , Nam H Cho
    • , Hyung-Lae Kim
    • , Bok-Ghee Han
    • , Jong-Young Lee
    •  & Yoon Shin Cho
  • Letter |

    Dianna Milewicz and colleagues report a genome-wide association study of sporadic thoracic aortic aneurysm and dissection. They identify an associated locus on 15q21 spanning the FBN1 gene.

    • Scott A LeMaire
    • , Merry-Lynn N McDonald
    • , Dong-chuan Guo
    • , Ludivine Russell
    • , Charles C Miller III
    • , Ralph J Johnson
    • , Mir Reza Bekheirnia
    • , Luis M Franco
    • , Mary Nguyen
    • , Reed E Pyeritz
    • , Joseph E Bavaria
    • , Richard Devereux
    • , Cheryl Maslen
    • , Kathryn W Holmes
    • , Kim Eagle
    • , Simon C Body
    • , Christine Seidman
    • , J G Seidman
    • , Eric M Isselbacher
    • , Molly Bray
    • , Joseph S Coselli
    • , Anthony L Estrera
    • , Hazim J Safi
    • , John W Belmont
    • , Suzanne M Leal
    •  & Dianna M Milewicz
  • Letter |

    Michiaki Kubo and colleagues report a genome-wide association study for age-related macular degeneration in individuals of Japanese ancestry. They identify two genetic loci newly associated with this disease.

    • Satoshi Arakawa
    • , Atsushi Takahashi
    • , Kyota Ashikawa
    • , Naoya Hosono
    • , Tomomi Aoi
    • , Miho Yasuda
    • , Yuji Oshima
    • , Shigeo Yoshida
    • , Hiroshi Enaida
    • , Takashi Tsuchihashi
    • , Keisuke Mori
    • , Shigeru Honda
    • , Akira Negi
    • , Akira Arakawa
    • , Kazuaki Kadonosono
    • , Yutaka Kiyohara
    • , Naoyuki Kamatani
    • , Yusuke Nakamura
    • , Tatsuro Ishibashi
    •  & Michiaki Kubo
  • Letter |

    Paul Elliott, Martin Tobin, Cornelia van Duijn and colleagues report a genome-wide association study for pulse pressure and mean arterial pressure, identifying six new loci influencing these two traits.

    • Louise V Wain
    • , Germaine C Verwoert
    • , Paul F O'Reilly
    • , Gang Shi
    • , Toby Johnson
    • , Andrew D Johnson
    • , Murielle Bochud
    • , Kenneth M Rice
    • , Peter Henneman
    • , Albert V Smith
    • , Georg B Ehret
    • , Najaf Amin
    • , Martin G Larson
    • , Vincent Mooser
    • , David Hadley
    • , Marcus Dörr
    • , Joshua C Bis
    • , Thor Aspelund
    • , Tõnu Esko
    • , A Cecile J W Janssens
    • , Jing Hua Zhao
    • , Simon Heath
    • , Maris Laan
    • , Jingyuan Fu
    • , Giorgio Pistis
    • , Jian'an Luan
    • , Pankaj Arora
    • , Gavin Lucas
    • , Nicola Pirastu
    • , Irene Pichler
    • , Anne U Jackson
    • , Rebecca J Webster
    • , Feng Zhang
    • , John F Peden
    • , Helena Schmidt
    • , Toshiko Tanaka
    • , Harry Campbell
    • , Wilmar Igl
    • , Yuri Milaneschi
    • , Jouke-Jan Hottenga
    • , Veronique Vitart
    • , Daniel I Chasman
    • , Stella Trompet
    • , Jennifer L Bragg-Gresham
    • , Behrooz Z Alizadeh
    • , John C Chambers
    • , Xiuqing Guo
    • , Terho Lehtimäki
    • , Brigitte Kühnel
    • , Lorna M Lopez
    • , Ozren Polašek
    • , Mladen Boban
    • , Christopher P Nelson
    • , Alanna C Morrison
    • , Vasyl Pihur
    • , Santhi K Ganesh
    • , Albert Hofman
    • , Suman Kundu
    • , Francesco U S Mattace-Raso
    • , Fernando Rivadeneira
    • , Eric J G Sijbrands
    • , Andre G Uitterlinden
    • , Shih-Jen Hwang
    • , Ramachandran S Vasan
    • , Thomas J Wang
    • , Sven Bergmann
    • , Peter Vollenweider
    • , Gérard Waeber
    • , Jaana Laitinen
    • , Anneli Pouta
    • , Paavo Zitting
    • , Wendy L McArdle
    • , Heyo K Kroemer
    • , Uwe Völker
    • , Henry Völzke
    • , Nicole L Glazer
    • , Kent D Taylor
    • , Tamara B Harris
    • , Helene Alavere
    • , Toomas Haller
    • , Aime Keis
    • , Mari-Liis Tammesoo
    • , Yurii Aulchenko
    • , Inês Barroso
    • , Kay-Tee Khaw
    • , Pilar Galan
    • , Serge Hercberg
    • , Mark Lathrop
    • , Susana Eyheramendy
    • , Elin Org
    • , Siim Sõber
    • , Xiaowen Lu
    • , Ilja M Nolte
    • , Brenda W Penninx
    • , Tanguy Corre
    • , Corrado Masciullo
    • , Cinzia Sala
    • , Leif Groop
    • , Benjamin F Voight
    • , Olle Melander
    • , Christopher J O'Donnell
    • , Veikko Salomaa
    • , Adamo Pio d'Adamo
    • , Antonella Fabretto
    • , Flavio Faletra
    • , Sheila Ulivi
    • , Fabiola Del Greco M
    • , Maurizio Facheris
    • , Francis S Collins
    • , Richard N Bergman
    • , John P Beilby
    • , Joseph Hung
    • , A William Musk
    • , Massimo Mangino
    • , So-Youn Shin
    • , Nicole Soranzo
    • , Hugh Watkins
    • , Anuj Goel
    • , Anders Hamsten
    • , Pierre Gider
    • , Marisa Loitfelder
    • , Marion Zeginigg
    • , Dena Hernandez
    • , Samer S Najjar
    • , Pau Navarro
    • , Sarah H Wild
    • , Anna Maria Corsi
    • , Andrew Singleton
    • , Eco J C de Geus
    • , Gonneke Willemsen
    • , Alex N Parker
    • , Lynda M Rose
    • , Brendan Buckley
    • , David Stott
    • , Marco Orru
    • , Manuela Uda
    • , LifeLines Cohort Study
    • , Melanie M van der Klauw
    • , Weihua Zhang
    • , Xinzhong Li
    • , James Scott
    • , Yii-Der Ida Chen
    • , Gregory L Burke
    • , Mika Kähönen
    • , Jorma Viikari
    • , Angela Döring
    • , Thomas Meitinger
    • , Gail Davies
    • , John M Starr
    • , Valur Emilsson
    • , Andrew Plump
    • , Jan H Lindeman
    • , Peter A C 't Hoen
    • , Inke R König
    • , EchoGen consortium
    • , Janine F Felix
    • , Robert Clarke
    • , Jemma C Hopewell
    • , Halit Ongen
    • , Monique Breteler
    • , Stéphanie Debette
    • , Anita L DeStefano
    • , Myriam Fornage
    • , AortaGen Consortium
    • , Gary F Mitchell
    • , CHARGE Consortium Heart Failure Working Group
    • , Nicholas L Smith
    • , KidneyGen consortium
    • , Hilma Holm
    • , Kari Stefansson
    • , Gudmar Thorleifsson
    • , Unnur Thorsteinsdottir
    • , CKDGen consortium
    • , Cardiogenics consortium
    • , CardioGram
    • , Nilesh J Samani
    • , Michael Preuss
    • , Igor Rudan
    • , Caroline Hayward
    • , Ian J Deary
    • , H-Erich Wichmann
    • , Olli T Raitakari
    • , Walter Palmas
    • , Jaspal S Kooner
    • , Ronald P Stolk
    • , J Wouter Jukema
    • , Alan F Wright
    • , Dorret I Boomsma
    • , Stefania Bandinelli
    • , Ulf B Gyllensten
    • , James F Wilson
    • , Luigi Ferrucci
    • , Reinhold Schmidt
    • , Martin Farrall
    • , Tim D Spector
    • , Lyle J Palmer
    • , Jaakko Tuomilehto
    • , Arne Pfeufer
    • , Paolo Gasparini
    • , David Siscovick
    • , David Altshuler
    • , Ruth J F Loos
    • , Daniela Toniolo
    • , Harold Snieder
    • , Christian Gieger
    • , Pierre Meneton
    • , Nicholas J Wareham
    • , Ben A Oostra
    • , Andres Metspalu
    • , Lenore Launer
    • , Rainer Rettig
    • , David P Strachan
    • , Jacques S Beckmann
    • , Jacqueline C M Witteman
    • , Jeanette Erdmann
    • , Ko Willems van Dijk
    • , Eric Boerwinkle
    • , Michael Boehnke
    • , Paul M Ridker
    • , Marjo-Riitta Jarvelin
    • , Aravinda Chakravarti
    • , Goncalo R Abecasis
    • , Vilmundur Gudnason
    • , Christopher Newton-Cheh
    • , Daniel Levy
    • , Patricia B Munroe
    • , Bruce M Psaty
    • , Mark J Caulfield
    • , Dabeeru C Rao
    • , Martin D Tobin
    • , Paul Elliott
    •  & Cornelia M van Duijn
  • Letter |

    Hamish Scott and colleagues report that germline mutations in GATA2 segregate with myelodysplastic syndrome and acute myeloid leukemia in four pedigrees. The resulting alterations occur in a conserved zinc finger DNA-binding domain of GATA2.

    • Christopher N Hahn
    • , Chan-Eng Chong
    • , Catherine L Carmichael
    • , Ella J Wilkins
    • , Peter J Brautigan
    • , Xiao-Chun Li
    • , Milena Babic
    • , Ming Lin
    • , Amandine Carmagnac
    • , Young K Lee
    • , Chung H Kok
    • , Lucia Gagliardi
    • , Kathryn L Friend
    • , Paul G Ekert
    • , Carolyn M Butcher
    • , Anna L Brown
    • , Ian D Lewis
    • , L Bik To
    • , Andrew E Timms
    • , Jan Storek
    • , Sarah Moore
    • , Meryl Altree
    • , Robert Escher
    • , Peter G Bardy
    • , Graeme K Suthers
    • , Richard J D'Andrea
    • , Marshall S Horwitz
    •  & Hamish S Scott
  • Letter |

    Thomas Wiesner and colleagues report that germline mutations in BAP1 predispose to melanocytic tumors ranging histopathologically from epithelioid nevi to atypical melanocytic proliferations. Some BAP1 mutation carriers also developed uveal or cutaneous melanomas.

    • Thomas Wiesner
    • , Anna C Obenauf
    • , Rajmohan Murali
    • , Isabella Fried
    • , Klaus G Griewank
    • , Peter Ulz
    • , Christian Windpassinger
    • , Werner Wackernagel
    • , Shea Loy
    • , Ingrid Wolf
    • , Agnes Viale
    • , Alex E Lash
    • , Mono Pirun
    • , Nicholas D Socci
    • , Arno Rütten
    • , Gabriele Palmedo
    • , David Abramson
    • , Kenneth Offit
    • , Arthur Ott
    • , Jürgen C Becker
    • , Lorenzo Cerroni
    • , Heinz Kutzner
    • , Boris C Bastian
    •  & Michael R Speicher
  • Letter |

    Joseph Testa, Michele Carbone and colleagues report that germline mutations in BAP1 predispose to malignant mesothelioma and uveal melanoma. They further hypothesize that mesothelioma predominates in BAP1 mutation carriers following exposure to asbestos.

    • Joseph R Testa
    • , Mitchell Cheung
    • , Jianming Pei
    • , Jennifer E Below
    • , Yinfei Tan
    • , Eleonora Sementino
    • , Nancy J Cox
    • , A Umran Dogan
    • , Harvey I Pass
    • , Sandra Trusa
    • , Mary Hesdorffer
    • , Masaki Nasu
    • , Amy Powers
    • , Zeyana Rivera
    • , Sabahattin Comertpay
    • , Mika Tanji
    • , Giovanni Gaudino
    • , Haining Yang
    •  & Michele Carbone
  • Letter |

    Andrea Ventura and colleagues report germline hemizygous deletions in the miR-17~92 cluster in individuals with features overlapping Feingold syndrome. Mice with targeted deletions in miR17~92 also display growth and skeletal defects.

    • Loïc de Pontual
    • , Evelyn Yao
    • , Patrick Callier
    • , Laurence Faivre
    • , Valérie Drouin
    • , Sandra Cariou
    • , Arie Van Haeringen
    • , David Geneviève
    • , Alice Goldenberg
    • , Myriam Oufadem
    • , Sylvie Manouvrier
    • , Arnold Munnich
    • , Joana Alves Vidigal
    • , Michel Vekemans
    • , Stanislas Lyonnet
    • , Alexandra Henrion-Caude
    • , Andrea Ventura
    •  & Jeanne Amiel
  • Letter |

    Adam Siepel and colleagues estimate key parameters for ancient human demography using a Bayesian analysis of the whole-genome sequences of six individuals from diverse populations. They present new methods for coalescent-based inference of demographic parameters as well as a custom pipeline for genotype inference.

    • Ilan Gronau
    • , Melissa J Hubisz
    • , Brad Gulko
    • , Charles G Danko
    •  & Adam Siepel
  • Letter |

    The Brassica rapa Genome Sequencing Project Consortium reports the draft genome of the B. rapa accession Chiifu-401-42, an inbred Chinese cabbage line. The B. rapa genome should provide a useful reference genome for the Brassica species, which include many important oil and vegetable crops.

    • The Brassica rapa Genome Sequencing Project Consortium
    • , Xiaowu Wang
    • , Hanzhong Wang
    • , Jun Wang
    • , Rifei Sun
    • , Jian Wu
    • , Shengyi Liu
    • , Yinqi Bai
    • , Jeong-Hwan Mun
    • , Ian Bancroft
    • , Feng Cheng
    • , Sanwen Huang
    • , Xixiang Li
    • , Wei Hua
    • , Junyi Wang
    • , Xiyin Wang
    • , Michael Freeling
    • , J Chris Pires
    • , Andrew H Paterson
    • , Boulos Chalhoub
    • , Bo Wang
    • , Alice Hayward
    • , Andrew G Sharpe
    • , Beom-Seok Park
    • , Bernd Weisshaar
    • , Binghang Liu
    • , Bo Li
    • , Bo Liu
    • , Chaobo Tong
    • , Chi Song
    • , Christopher Duran
    • , Chunfang Peng
    • , Chunyu Geng
    • , Chushin Koh
    • , Chuyu Lin
    • , David Edwards
    • , Desheng Mu
    • , Di Shen
    • , Eleni Soumpourou
    • , Fei Li
    • , Fiona Fraser
    • , Gavin Conant
    • , Gilles Lassalle
    • , Graham J King
    • , Guusje Bonnema
    • , Haibao Tang
    • , Haiping Wang
    • , Harry Belcram
    • , Heling Zhou
    • , Hideki Hirakawa
    • , Hiroshi Abe
    • , Hui Guo
    • , Hui Wang
    • , Huizhe Jin
    • , Isobel A P Parkin
    • , Jacqueline Batley
    • , Jeong-Sun Kim
    • , Jérémy Just
    • , Jianwen Li
    • , Jiaohui Xu
    • , Jie Deng
    • , Jin A Kim
    • , Jingping Li
    • , Jingyin Yu
    • , Jinling Meng
    • , Jinpeng Wang
    • , Jiumeng Min
    • , Julie Poulain
    • , Jun Wang
    • , Katsunori Hatakeyama
    • , Kui Wu
    • , Li Wang
    • , Lu Fang
    • , Martin Trick
    • , Matthew G Links
    • , Meixia Zhao
    • , Mina Jin
    • , Nirala Ramchiary
    • , Nizar Drou
    • , Paul J Berkman
    • , Qingle Cai
    • , Quanfei Huang
    • , Ruiqiang Li
    • , Satoshi Tabata
    • , Shifeng Cheng
    • , Shu Zhang
    • , Shujiang Zhang
    • , Shunmou Huang
    • , Shusei Sato
    • , Silong Sun
    • , Soo-Jin Kwon
    • , Su-Ryun Choi
    • , Tae-Ho Lee
    • , Wei Fan
    • , Xiang Zhao
    • , Xu Tan
    • , Xun Xu
    • , Yan Wang
    • , Yang Qiu
    • , Ye Yin
    • , Yingrui Li
    • , Yongchen Du
    • , Yongcui Liao
    • , Yongpyo Lim
    • , Yoshihiro Narusaka
    • , Yupeng Wang
    • , Zhenyi Wang
    • , Zhenyu Li
    • , Zhiwen Wang
    • , Zhiyong Xiong
    •  & Zhonghua Zhang

Corrigenda

Erratum

  • Erratum |

    • Birgitte R Kornum
    • , Minae Kawashima
    • , Juliette Faraco
    • , Ling Lin
    • , Thomas J Rico
    • , Stephanie Hesselson
    • , Robert C Axtell
    • , Hedwich Kuipers
    • , Karin Weiner
    • , Alexandra Hamacher
    • , Matthias U Kassack
    • , Fang Han
    • , Stine Knudsen
    • , Jing Li
    • , Xiaosong Dong
    • , Juliane Winkelmann
    • , Giuseppe Plazzi
    • , Sona Nevsimalova
    • , Seung-Chul Hong
    • , Yutaka Honda
    • , Makoto Honda
    • , Birgit Högl
    • , Thanh G N Ton
    • , Jacques Montplaisir
    • , Patrice Bourgin
    • , David Kemlink
    • , Yu-Shu Huang
    • , Simon Warby
    • , Mali Einen
    • , Jasmin L Eshragh
    • , Taku Miyagawa
    • , Alex Desautels
    • , Elisabeth Ruppert
    • , Per Egil Hesla
    • , Francesca Poli
    • , Fabio Pizza
    • , Birgit Frauscher
    • , Jong-Hyun Jeong
    • , Sung-Pil Lee
    • , Kingman P Strohl
    • , William T Longstreth Jr
    • , Mark Kvale
    • , Marie Dobrovolna
    • , Maurice M Ohayon
    • , Gerald T Nepom
    • , H-Erich Wichmann
    • , Guy A Rouleau
    • , Christian Gieger
    • , Douglas F Levinson
    • , Pablo V Gejman
    • , Thomas Meitinger
    • , Paul Peppard
    • , Terry Young
    • , Poul Jennum
    • , Lawrence Steinman
    • , Katsushi Tokunaga
    • , Pui-Yan Kwok
    • , Neil Risch
    • , Joachim Hallmayer
    •  & Emmanuel Mignot