Volume 45 Issue 2, February 2013

Volume 45 Issue 2

Cover art by Daniela Leitner http://www.danielaleitner.de/

Editorial

  • Editorial |

    In this issue, we offer a draft community standard for a postdoctoral career workshop that can be used as a template and resource for career development at any institution. This document addresses the issue of what can be standardized to improve the lot of postdoctoral researchers, given that this is a professional group with diverse objectives that is motivated mainly by scientific curiosity.

Commentary

News and Views

  • News & Views |

    Our understanding of inherited risk factors for colorectal cancer (CRC) is incomplete. A new study reports the identification of germline CRC risk variants that adversely affect the proofreading function of DNA polymerases encoded by POLE and POLD1.

    • Somasekar Seshagiri

Research Highlights

Analysis

Brief Communications

  • Brief Communication |

    Matthew Meyerson and colleagues report exome sequencing of solitary fibrous tumor (SFT), a rare mesenchymal tumor. They identify a NAB2-STAT6 fusion in 55% of cases.

    • Juliann Chmielecki
    • , Aimee M Crago
    • , Mara Rosenberg
    • , Rachael O'Connor
    • , Sarah R Walker
    • , Lauren Ambrogio
    • , Daniel Auclair
    • , Aaron McKenna
    • , Michael C Heinrich
    • , David A Frank
    •  & Matthew Meyerson
  • Brief Communication |

    William Harbour, Anne Bowcock and colleagues identify recurrent mutations at codon 625 of SF3B1 in uveal melanomas. These mutations occur in low-grade tumors and are associated with favorable prognosis.

    • J William Harbour
    • , Elisha D O Roberson
    • , Hima Anbunathan
    • , Michael D Onken
    • , Lori A Worley
    •  & Anne M Bowcock

Articles

  • Article |

    Ian Tomlinson and colleagues report the identification of germline variants in POLE and POLD1 that are susceptibility alleles for colorectal cancer. POLE and POLD1 encode DNA polymerases that function in DNA replication.

    • Claire Palles
    • , Jean-Baptiste Cazier
    • , Kimberley M Howarth
    • , Enric Domingo
    • , Angela M Jones
    • , Peter Broderick
    • , Zoe Kemp
    • , Sarah L Spain
    • , Estrella Guarino
    • , Israel Salguero
    • , Amy Sherborne
    • , Daniel Chubb
    • , Luis G Carvajal-Carmona
    • , Yusanne Ma
    • , Kulvinder Kaur
    • , Sara Dobbins
    • , Ella Barclay
    • , Maggie Gorman
    • , Lynn Martin
    • , Michal B Kovac
    • , Sean Humphray
    • , The CORGI Consortium
    • , Huw J W Thomas
    • , Eamonn Maher
    • , Gareth Evans
    • , Anneke Lucassen
    • , Carole Cummings
    • , Margaret Stevens
    • , Lisa Walker
    • , Dorothy Halliday
    • , Ruth Armstrong
    • , Joan Paterson
    • , Shirley Hodgson
    • , Tessa Homfray
    • , Lucy Side
    • , Louise Izatt
    • , Alan Donaldson
    • , Susan Tomkins
    • , Patrick Morrison
    • , Selina Goodman
    • , Carole Brewer
    • , Alex Henderson
    • , Rosemarie Davidson
    • , Victoria Murday
    • , Jaqueline Cook
    • , Neva Haites
    • , Timothy Bishop
    • , Eamonn Sheridan
    • , Andrew Green
    • , Christopher Marks
    • , Sue Carpenter
    • , Mary Broughton
    • , Lynn Greenhalge
    • , Mohnish Suri
    • , The WGS500 Consortium
    • , Anneke Lucassen
    • , Christopher C Holmes
    • , David Bentley
    • , Peter Donnelly
    • , Jenny Taylor
    • , Christos Petridis
    • , Rebecca Roylance
    • , Elinor J Sawyer
    • , David J Kerr
    • , Susan Clark
    • , Jonathan Grimes
    • , Stephen E Kearsey
    • , Huw J W Thomas
    • , Gilean McVean
    • , Richard S Houlston
    •  & Ian Tomlinson
  • Article |

    Anna Köttgen and colleagues report genome-wide association studies for serum urate in over 140,000 individuals from the Global Urate Genetics Consortium (GUGC). They identify 18 loci newly associated with serum urate concentrations and confirm 10 known loci, characterize their associations with gout and include a network analysis suggesting a role for inhibins-activins pathways in regulating urate homeostasis.

    • Anna Köttgen
    • , Eva Albrecht
    • , Alexander Teumer
    • , Veronique Vitart
    • , Jan Krumsiek
    • , Claudia Hundertmark
    • , Giorgio Pistis
    • , Daniela Ruggiero
    • , Conall M O'Seaghdha
    • , Toomas Haller
    • , Qiong Yang
    • , Toshiko Tanaka
    • , Andrew D Johnson
    • , Zoltán Kutalik
    • , Albert V Smith
    • , Julia Shi
    • , Maksim Struchalin
    • , Rita P S Middelberg
    • , Morris J Brown
    • , Angelo L Gaffo
    • , Nicola Pirastu
    • , Guo Li
    • , Caroline Hayward
    • , Tatijana Zemunik
    • , Jennifer Huffman
    • , Loic Yengo
    • , Jing Hua Zhao
    • , Ayse Demirkan
    • , Mary F Feitosa
    • , Xuan Liu
    • , Giovanni Malerba
    • , Lorna M Lopez
    • , Pim van der Harst
    • , Xinzhong Li
    • , Marcus E Kleber
    • , Andrew A Hicks
    • , Ilja M Nolte
    • , Asa Johansson
    • , Federico Murgia
    • , Sarah H Wild
    • , Stephan J L Bakker
    • , John F Peden
    • , Abbas Dehghan
    • , Maristella Steri
    • , Albert Tenesa
    • , Vasiliki Lagou
    • , Perttu Salo
    • , Massimo Mangino
    • , Lynda M Rose
    • , Terho Lehtimäki
    • , Owen M Woodward
    • , Yukinori Okada
    • , Adrienne Tin
    • , Christian Müller
    • , Christopher Oldmeadow
    • , Margus Putku
    • , Darina Czamara
    • , Peter Kraft
    • , Laura Frogheri
    • , Gian Andri Thun
    • , Anne Grotevendt
    • , Gauti Kjartan Gislason
    • , Tamara B Harris
    • , Lenore J Launer
    • , Patrick McArdle
    • , Alan R Shuldiner
    • , Eric Boerwinkle
    • , Josef Coresh
    • , Helena Schmidt
    • , Michael Schallert
    • , Nicholas G Martin
    • , Grant W Montgomery
    • , Michiaki Kubo
    • , Yusuke Nakamura
    • , Toshihiro Tanaka
    • , Patricia B Munroe
    • , Nilesh J Samani
    • , David R Jacobs Jr
    • , Kiang Liu
    • , Pio D'Adamo
    • , Sheila Ulivi
    • , Jerome I Rotter
    • , Bruce M Psaty
    • , Peter Vollenweider
    • , Gerard Waeber
    • , Susan Campbell
    • , Olivier Devuyst
    • , Pau Navarro
    • , Ivana Kolcic
    • , Nicholas Hastie
    • , Beverley Balkau
    • , Philippe Froguel
    • , Tõnu Esko
    • , Andres Salumets
    • , Kay Tee Khaw
    • , Claudia Langenberg
    • , Nicholas J Wareham
    • , Aaron Isaacs
    • , Aldi Kraja
    • , Qunyuan Zhang
    • , Philipp S Wild
    • , Rodney J Scott
    • , Elizabeth G Holliday
    • , Elin Org
    • , Margus Viigimaa
    • , Stefania Bandinelli
    • , Jeffrey E Metter
    • , Antonio Lupo
    • , Elisabetta Trabetti
    • , Rossella Sorice
    • , Angela Döring
    • , Eva Lattka
    • , Konstantin Strauch
    • , Fabian Theis
    • , Melanie Waldenberger
    • , H-Erich Wichmann
    • , Gail Davies
    • , Alan J Gow
    • , Marcel Bruinenberg
    • , LifeLines Cohort Study
    • , Ronald P Stolk
    • , Jaspal S Kooner
    • , Weihua Zhang
    • , Bernhard R Winkelmann
    • , Bernhard O Boehm
    • , Susanne Lucae
    • , Brenda W Penninx
    • , Johannes H Smit
    • , Gary Curhan
    • , Poorva Mudgal
    • , Robert M Plenge
    • , Laura Portas
    • , Ivana Persico
    • , Mirna Kirin
    • , James F Wilson
    • , Irene Mateo Leach
    • , Wiek H van Gilst
    • , Anuj Goel
    • , Halit Ongen
    • , Albert Hofman
    • , Fernando Rivadeneira
    • , Andre G Uitterlinden
    • , Medea Imboden
    • , Arnold von Eckardstein
    • , Francesco Cucca
    • , Ramaiah Nagaraja
    • , Maria Grazia Piras
    • , Matthias Nauck
    • , Claudia Schurmann
    • , Kathrin Budde
    • , Florian Ernst
    • , Susan M Farrington
    • , Evropi Theodoratou
    • , Inga Prokopenko
    • , Michael Stumvoll
    • , Antti Jula
    • , Markus Perola
    • , Veikko Salomaa
    • , So-Youn Shin
    • , Tim D Spector
    • , Cinzia Sala
    • , Paul M Ridker
    • , Mika Kähönen
    • , Jorma Viikari
    • , Christian Hengstenberg
    • , Christopher P Nelson
    • , CARDIoGRAM Consortium
    • , DIAGRAM Consortium
    • , ICBP Consortium
    • , MAGIC Consortium
    • , James F Meschia
    • , Michael A Nalls
    • , Pankaj Sharma
    • , Andrew B Singleton
    • , Naoyuki Kamatani
    • , Tanja Zeller
    • , Michel Burnier
    • , John Attia
    • , Maris Laan
    • , Norman Klopp
    • , Hans L Hillege
    • , Stefan Kloiber
    • , Hyon Choi
    • , Mario Pirastu
    • , Silvia Tore
    • , Nicole M Probst-Hensch
    • , Henry Völzke
    • , Vilmundur Gudnason
    • , Afshin Parsa
    • , Reinhold Schmidt
    • , John B Whitfield
    • , Myriam Fornage
    • , Paolo Gasparini
    • , David S Siscovick
    • , Ozren Polašek
    • , Harry Campbell
    • , Igor Rudan
    • , Nabila Bouatia-Naji
    • , Andres Metspalu
    • , Ruth J F Loos
    • , Cornelia M van Duijn
    • , Ingrid B Borecki
    • , Luigi Ferrucci
    • , Giovanni Gambaro
    • , Ian J Deary
    • , Bruce H R Wolffenbuttel
    • , John C Chambers
    • , Winfried März
    • , Peter P Pramstaller
    • , Harold Snieder
    • , Ulf Gyllensten
    • , Alan F Wright
    • , Gerjan Navis
    • , Hugh Watkins
    • , Jacqueline C M Witteman
    • , Serena Sanna
    • , Sabine Schipf
    • , Malcolm G Dunlop
    • , Anke Tönjes
    • , Samuli Ripatti
    • , Nicole Soranzo
    • , Daniela Toniolo
    • , Daniel I Chasman
    • , Olli Raitakari
    • , W H Linda Kao
    • , Marina Ciullo
    • , Caroline S Fox
    • , Mark Caulfield
    • , Murielle Bochud
    •  & Christian Gieger
  • Article |

    Stuart Macregor, Tien Wong and colleagues report meta-analyses that identify 16 new loci associated with central corneal thickness. They also identify two loci associated with risk of developing keratoconus, a common corneal ectasia.

    • Yi Lu
    • , Veronique Vitart
    • , Kathryn P Burdon
    • , Chiea Chuen Khor
    • , Yelena Bykhovskaya
    • , Alireza Mirshahi
    • , Alex W Hewitt
    • , Demelza Koehn
    • , Pirro G Hysi
    • , Wishal D Ramdas
    • , Tanja Zeller
    • , Eranga N Vithana
    • , Belinda K Cornes
    • , Wan-Ting Tay
    • , E Shyong Tai
    • , Ching-Yu Cheng
    • , Jianjun Liu
    • , Jia-Nee Foo
    • , Seang Mei Saw
    • , Gudmar Thorleifsson
    • , Kari Stefansson
    • , David P Dimasi
    • , Richard A Mills
    • , Jenny Mountain
    • , Wei Ang
    • , René Hoehn
    • , Virginie J M Verhoeven
    • , Franz Grus
    • , Roger Wolfs
    • , Raphaële Castagne
    • , Karl J Lackner
    • , Henriët Springelkamp
    • , Jian Yang
    • , Fridbert Jonasson
    • , Dexter Y L Leung
    • , Li J Chen
    • , Clement C Y Tham
    • , Igor Rudan
    • , Zoran Vatavuk
    • , Caroline Hayward
    • , Jane Gibson
    • , Angela J Cree
    • , Alex MacLeod
    • , Sarah Ennis
    • , Ozren Polasek
    • , Harry Campbell
    • , James F Wilson
    • , Ananth C Viswanathan
    • , Brian Fleck
    • , Xiaohui Li
    • , David Siscovick
    • , Kent D Taylor
    • , Jerome I Rotter
    • , Seyhan Yazar
    • , Megan Ulmer
    • , Jun Li
    • , Brian L Yaspan
    • , Ayse B Ozel
    • , Julia E Richards
    • , Sayoko E Moroi
    • , Jonathan L Haines
    • , Jae H Kang
    • , Louis R Pasquale
    • , R Rand Allingham
    • , Allison Ashley-Koch
    • , NEIGHBOR Consortium
    • , Paul Mitchell
    • , Jie Jin Wang
    • , Alan F Wright
    • , Craig Pennell
    • , Timothy D Spector
    • , Terri L Young
    • , Caroline C W Klaver
    • , Nicholas G Martin
    • , Grant W Montgomery
    • , Michael G Anderson
    • , Tin Aung
    • , Colin E Willoughby
    • , Janey L Wiggs
    • , Chi P Pang
    • , Unnur Thorsteinsdottir
    • , Andrew J Lotery
    • , Christopher J Hammond
    • , Cornelia M van Duijn
    • , Michael A Hauser
    • , Yaron S Rabinowitz
    • , Norbert Pfeiffer
    • , David A Mackey
    • , Jamie E Craig
    • , Stuart Macgregor
    •  & Tien Y Wong
  • Article |

    Ludmila Prokunina-Olsson, Thomas O'Brien and colleagues report the discovery of a new gene, INFL4, encoding interferon-λ4, that is upstream of INFL3 (IL28B). A compound dinucleotide frameshift genetic variant in INFL4 creates the full-length INFL4 protein and is more strongly associated with hepatitis C virus clearance in individuals of African ancestry than rs12979860, a known variant associated with clearance.

    • Ludmila Prokunina-Olsson
    • , Brian Muchmore
    • , Wei Tang
    • , Ruth M Pfeiffer
    • , Heiyoung Park
    • , Harold Dickensheets
    • , Dianna Hergott
    • , Patricia Porter-Gill
    • , Adam Mumy
    • , Indu Kohaar
    • , Sabrina Chen
    • , Nathan Brand
    • , McAnthony Tarway
    • , Luyang Liu
    • , Faruk Sheikh
    • , Jacquie Astemborski
    • , Herbert L Bonkovsky
    • , Brian R Edlin
    • , Charles D Howell
    • , Timothy R Morgan
    • , David L Thomas
    • , Barbara Rehermann
    • , Raymond P Donnelly
    •  & Thomas R O'Brien
  • Article | | open

    Roland Brosch and colleagues report whole-genome sequencing of tubercle bacilli with smooth colony morphology, also known as Mycobacterium canetti and/or Mycobacterium prototuberculosis, obtained from humans with tuberculosis from geographically diverse regions. Their comparative genomic analysis with Mycobacterium tuberculosis and other M. tuberculosis complex members identifies extensive recombination and provides insights into the evolution of mycobacteria. The authors also report that tubercle bacilli with smooth colony morphology show reduced persistence and virulence compared to M. tuberculosis strains in infection experiments in mice.

    • Philip Supply
    • , Michael Marceau
    • , Sophie Mangenot
    • , David Roche
    • , Carine Rouanet
    • , Varun Khanna
    • , Laleh Majlessi
    • , Alexis Criscuolo
    • , Julien Tap
    • , Alexandre Pawlik
    • , Laurence Fiette
    • , Mickael Orgeur
    • , Michel Fabre
    • , Cécile Parmentier
    • , Wafa Frigui
    • , Roxane Simeone
    • , Eva C Boritsch
    • , Anne-Sophie Debrie
    • , Eve Willery
    • , Danielle Walker
    • , Michael A Quail
    • , Laurence Ma
    • , Christiane Bouchier
    • , Grégory Salvignol
    • , Fadel Sayes
    • , Alessandro Cascioferro
    • , Torsten Seemann
    • , Valérie Barbe
    • , Camille Locht
    • , Maria-Cristina Gutierrez
    • , Claude Leclerc
    • , Stephen D Bentley
    • , Timothy P Stinear
    • , Sylvain Brisse
    • , Claudine Médigue
    • , Julian Parkhill
    • , Stéphane Cruveiller
    •  & Roland Brosch

Letters

  • Letter |

    Arul Chinnaiyan and colleagues identify NAB2-STAT6 fusions in 52 of 52 solitary fibrous tumor cases. Overexpression of this fusion induced cell proliferation, which could be suppressed by knockdown of EGR1.

    • Dan R Robinson
    • , Yi-Mi Wu
    • , Shanker Kalyana-Sundaram
    • , Xuhong Cao
    • , Robert J Lonigro
    • , Yun-Shao Sung
    • , Chun-Liang Chen
    • , Lei Zhang
    • , Rui Wang
    • , Fengyun Su
    • , Matthew K Iyer
    • , Sameek Roychowdhury
    • , Javed Siddiqui
    • , Kenneth J Pienta
    • , Lakshmi P Kunju
    • , Moshe Talpaz
    • , Juan Miguel Mosquera
    • , Samuel Singer
    • , Scott M Schuetze
    • , Cristina R Antonescu
    •  & Arul M Chinnaiyan
  • Letter |

    Stein Aerts, Jan Cools and colleagues report exome sequencing of T-cell acute lymphoblastic leukemia. They identify recurrent somatic mutations in CNOT3 and ribosome genes RPL5 and RPL10.

    • Kim De Keersmaecker
    • , Zeynep Kalender Atak
    • , Ning Li
    • , Carmen Vicente
    • , Stephanie Patchett
    • , Tiziana Girardi
    • , Valentina Gianfelici
    • , Ellen Geerdens
    • , Emmanuelle Clappier
    • , Michaël Porcu
    • , Idoya Lahortiga
    • , Rossella Lucà
    • , Jiekun Yan
    • , Gert Hulselmans
    • , Hilde Vranckx
    • , Roel Vandepoel
    • , Bram Sweron
    • , Kris Jacobs
    • , Nicole Mentens
    • , Iwona Wlodarska
    • , Barbara Cauwelier
    • , Jacqueline Cloos
    • , Jean Soulier
    • , Anne Uyttebroeck
    • , Claudia Bagni
    • , Bassem A Hassan
    • , Peter Vandenberghe
    • , Arlen W Johnson
    • , Stein Aerts
    •  & Jan Cools
  • Letter |

    Wei Zheng and colleagues report genome-wide analyses in east Asians and identify three new loci associated with colorectal cancer risk.

    • Wei-Hua Jia
    • , Ben Zhang
    • , Keitaro Matsuo
    • , Aesun Shin
    • , Yong-Bing Xiang
    • , Sun Ha Jee
    • , Dong-Hyun Kim
    • , Zefang Ren
    • , Qiuyin Cai
    • , Jirong Long
    • , Jiajun Shi
    • , Wanqing Wen
    • , Gong Yang
    • , Ryan J Delahanty
    • , Genetics and Epidemiology of Colorectal Cancer Consortium (GECCO)
    • , Aaron K Aragaki
    • , John A Baron
    • , Sonja I Berndt
    • , Stéphane Bezieau
    • , Hermann Brenner
    • , Katja Butterbach
    • , Bette J Caan
    • , Christopher S Carlson
    • , Graham Casey
    • , Andrew T Chan
    • , Jenny Chang-Claude
    • , Stephen J Chanock
    • , Lin S Chen
    • , Gerhard A Coetzee
    • , Simon G Coetzee
    • , David V Conti
    • , Keith Curtis
    • , David Duggan
    • , Todd L Edwards
    • , Charles S Fuchs
    • , Steven Gallinger
    • , Edward L Giovannucci
    • , Stephanie M Gogarten
    • , Robert W Haile
    • , Tabitha A Harrison
    • , Richard B Hayes
    • , Michael Hoffmeister
    • , John L Hopper
    • , Li Hsu
    • , Thomas J Hudson
    • , David J Hunter
    • , Carolyn M Hutter
    • , Rebecca D Jackson
    • , Mark A Jenkins
    • , Shuo Jiao
    • , Charles Kooperberg
    • , Sébastien Küry
    • , Andrea Z LaCroix
    • , Cathy C Laurie
    • , Cecelia A Laurie
    • , Loic Le Marchand
    • , Mathieu Lemire
    • , David Levine
    • , Noralane M Lindor
    • , Yan Liu
    • , Jing Ma
    • , Karen W Makar
    • , Polly A Newcomb
    • , Ulrike Peters
    • , John D Potter
    • , Ross L Prentice
    • , Conghui Qu
    • , Thomas Rohan
    • , Robert E Schoen
    • , Stephen N Thibodeau
    • , Cornelia M Ulrich
    • , Raakhee Vijayaraghavan
    • , Bruce Weir
    • , Emily White
    • , Brent W Zanke
    • , Colon Cancer Family Registry (CCFR)
    • , Bu-Tian Ji
    • , Zhi-Zhong Pan
    • , Fumihiko Matsuda
    • , Yu-Tang Gao
    • , Jae Hwan Oh
    • , Yoon-Ok Ahn
    • , Eun Jung Park
    • , Hong-Lan Li
    • , Ji Won Park
    • , Jaeseong Jo
    • , Jin-Young Jeong
    • , Satoyo Hosono
    • , Graham Casey
    • , Ulrike Peters
    • , Xiao-Ou Shu
    • , Yi-Xin Zeng
    •  & Wei Zheng
  • Letter |

    Karen Mohlke, Markku Laakso, Michael Boehnke and colleagues report the first application of the Illumina HumanExome Beadchip array, examining association with insulin and glycemic traits in 8,229 nondiabetic Finnish males from the population-based Metabolic Syndrome in Men (METSIM) study. They identify low-frequency coding variants at both known and newly associated loci with insulin processing and secretion.

    • Jeroen R Huyghe
    • , Anne U Jackson
    • , Marie P Fogarty
    • , Martin L Buchkovich
    • , Alena Stančáková
    • , Heather M Stringham
    • , Xueling Sim
    • , Lingyao Yang
    • , Christian Fuchsberger
    • , Henna Cederberg
    • , Peter S Chines
    • , Tanya M Teslovich
    • , Jane M Romm
    • , Hua Ling
    • , Ivy McMullen
    • , Roxann Ingersoll
    • , Elizabeth W Pugh
    • , Kimberly F Doheny
    • , Benjamin M Neale
    • , Mark J Daly
    • , Johanna Kuusisto
    • , Laura J Scott
    • , Hyun Min Kang
    • , Francis S Collins
    • , Gonçalo R Abecasis
    • , Richard M Watanabe
    • , Michael Boehnke
    • , Markku Laakso
    •  & Karen L Mohlke
  • Letter |

    Daniel Kastner and colleagues report genome-wide association analyses for Behçet's disease, a condition characterized by episodic inflammation of the skin and eyes and an important cause of blindness. They identify four loci newly associated with Behçet's disease, an epistatic interaction between HLA-B*51 and ERAP1 and overlap with loci previously associated to related inflammatory disorders.

    • Yohei Kirino
    • , George Bertsias
    • , Yoshiaki Ishigatsubo
    • , Nobuhisa Mizuki
    • , Ilknur Tugal-Tutkun
    • , Emire Seyahi
    • , Yilmaz Ozyazgan
    • , F Sevgi Sacli
    • , Burak Erer
    • , Hidetoshi Inoko
    • , Zeliha Emrence
    • , Atilla Cakar
    • , Neslihan Abaci
    • , Duran Ustek
    • , Colleen Satorius
    • , Atsuhisa Ueda
    • , Mitsuhiro Takeno
    • , Yoonhee Kim
    • , Geryl M Wood
    • , Michael J Ombrello
    • , Akira Meguro
    • , Ahmet Gül
    • , Elaine F Remmers
    •  & Daniel L Kastner
  • Letter |

    Jenefer Blackwell, Peter Donnelly and colleagues report a genome-wide association study for visceral leishmaniasis using studies from India and Brazil, with replication in an additional Indian study. They identify common variants at the HLA-DRB1HLA-DQA1 HLA class II region associated with susceptibility to visceral leishmaniasis.

    • LeishGEN Consortium
    • , Wellcome Trust Case Control Consortium 2
    • , Michaela Fakiola
    • , Amy Strange
    • , Heather J Cordell
    • , E Nancy Miller
    • , Matti Pirinen
    • , Zhan Su
    • , Anshuman Mishra
    • , Sanjana Mehrotra
    • , Gloria R Monteiro
    • , Gavin Band
    • , Céline Bellenguez
    • , Serge Dronov
    • , Sarah Edkins
    • , Colin Freeman
    • , Eleni Giannoulatou
    • , Emma Gray
    • , Sarah E Hunt
    • , Henio G Lacerda
    • , Cordelia Langford
    • , Richard Pearson
    • , Núbia N Pontes
    • , Madhukar Rai
    • , Shri P Singh
    • , Linda Smith
    • , Olivia Sousa
    • , Damjan Vukcevic
    • , Elvira Bramon
    • , Matthew A Brown
    • , Juan P Casas
    • , Aiden Corvin
    • , Audrey Duncanson
    • , Janusz Jankowski
    • , Hugh S Markus
    • , Christopher G Mathew
    • , Colin N A Palmer
    • , Robert Plomin
    • , Anna Rautanen
    • , Stephen J Sawcer
    • , Richard C Trembath
    • , Ananth C Viswanathan
    • , Nicholas W Wood
    • , Mary E Wilson
    • , Panos Deloukas
    • , Leena Peltonen
    • , Frank Christiansen
    • , Campbell Witt
    • , Selma M B Jeronimo
    • , Shyam Sundar
    • , Chris C A Spencer
    • , Jenefer M Blackwell
    •  & Peter Donnelly
  • Letter |

    Michal Minczuk, Wolfram Kunz and colleagues report that loss-of-function mutations in MGME1 impair mitochondrial DNA replication and cause a multisystemic mitochondrial disease. Their functional studies show that MGME1 encodes a RecB-type exonuclease that cleaves single-stranded DNA and processes DNA flap substrates.

    • Cornelia Kornblum
    • , Thomas J Nicholls
    • , Tobias B Haack
    • , Susanne Schöler
    • , Viktoriya Peeva
    • , Katharina Danhauser
    • , Kerstin Hallmann
    • , Gábor Zsurka
    • , Joanna Rorbach
    • , Arcangela Iuso
    • , Thomas Wieland
    • , Monica Sciacco
    • , Dario Ronchi
    • , Giacomo P Comi
    • , Maurizio Moggio
    • , Catarina M Quinzii
    • , Salvatore DiMauro
    • , Sarah E Calvo
    • , Vamsi K Mootha
    • , Thomas Klopstock
    • , Tim M Strom
    • , Thomas Meitinger
    • , Michal Minczuk
    • , Wolfram S Kunz
    •  & Holger Prokisch
  • Letter | | open

    Minsheng You and colleagues report the whole-genome sequence of the diamondback moth, Plutella xylostella. Their transcriptome analysis from different life stages, together with comparative genomic and phylogenetic analysis, provides insights into herbivore evolution and insect adaptation to plant feeding and detoxification.

    • Minsheng You
    • , Zhen Yue
    • , Weiyi He
    • , Xinhua Yang
    • , Guang Yang
    • , Miao Xie
    • , Dongliang Zhan
    • , Simon W Baxter
    • , Liette Vasseur
    • , Geoff M Gurr
    • , Carl J Douglas
    • , Jianlin Bai
    • , Ping Wang
    • , Kai Cui
    • , Shiguo Huang
    • , Xianchun Li
    • , Qing Zhou
    • , Zhangyan Wu
    • , Qilin Chen
    • , Chunhui Liu
    • , Bo Wang
    • , Xiaojing Li
    • , Xiufeng Xu
    • , Changxin Lu
    • , Min Hu
    • , John W Davey
    • , Sandy M Smith
    • , Mingshun Chen
    • , Xiaofeng Xia
    • , Weiqi Tang
    • , Fushi Ke
    • , Dandan Zheng
    • , Yulan Hu
    • , Fengqin Song
    • , Yanchun You
    • , Xiaoli Ma
    • , Lu Peng
    • , Yunkai Zheng
    • , Yong Liang
    • , Yaqiong Chen
    • , Liying Yu
    • , Younan Zhang
    • , Yuanyuan Liu
    • , Guoqing Li
    • , Lin Fang
    • , Jingxiang Li
    • , Xin Zhou
    • , Yadan Luo
    • , Caiyun Gou
    • , Junyi Wang
    • , Jian Wang
    • , Huanming Yang
    •  & Jun Wang