Volume 43 Issue 1, January 2011

Volume 43 Issue 1

Copyright 2013 from The Molecules of Life by John Kuriyan, Boyana Konforti & David Wemmer. Reproduced by permission of Garland Science/Taylor & Francis LLC.

Editorial

  • Editorial |

    Data tables are a central element of most scientific papers. Simplified tables with separation of data storage from presentation format are ways to increase the impact and use of research data.

Correspondence

Obituary

News and Views

  • News & Views |

    Adult stem cells play pivotal roles in self-renewing tissues but also in the post-injury repair of adult organs that normally show little proliferative activity. A new study shows that Sox9 marks a putative adult stem cell population that contributes to the self-renewal and repair of the liver, exocrine pancreas and intestine, three organs of endodermal origin.

    • Meritxell Huch
    •  & Hans Clevers
  • News & Views |

    Genetic mapping studies in dogs, mice, zebrafish and humans have identified two new genes required for the assembly of motile cilia. The resulting gene products, CCDC39 and CCDC40, may represent previously unidentified components of the dynein regulatory complex.

    • Peter Satir
  • News & Views |

    To understand transcriptional regulation, it is necessary to understand the factors that determine where a particular transcription factor binds in the genome. A new study demonstrates that a single protein, FoxA1, can dictate the global DNA binding profile and the transcriptional function of estrogen receptor a in breast cancer cells and in other cell types.

    • Edwin Cheung
    •  & Yijun Ruan

Research Highlights

Brief Communications

  • Brief Communication |

    Tom Karlsen and colleagues report a genome-wide association study for primary sclerosing cholangitis, a chronic bile duct disease. They identify susceptibility loci at MST1 and near BCL2L11.

    • Espen Melum
    • , Andre Franke
    • , Christoph Schramm
    • , Tobias J Weismüller
    • , Daniel Nils Gotthardt
    • , Felix A Offner
    • , Brian D Juran
    • , Jon K Laerdahl
    • , Verena Labi
    • , Einar Björnsson
    • , Rinse K Weersma
    • , Liesbet Henckaerts
    • , Andreas Teufel
    • , Christian Rust
    • , Eva Ellinghaus
    • , Tobias Balschun
    • , Kirsten Muri Boberg
    • , David Ellinghaus
    • , Annika Bergquist
    • , Peter Sauer
    • , Euijung Ryu
    • , Johannes Roksund Hov
    • , Jochen Wedemeyer
    • , Björn Lindkvist
    • , Michael Wittig
    • , Robert J Porte
    • , Kristian Holm
    • , Christian Gieger
    • , H-Erich Wichmann
    • , Pieter Stokkers
    • , Cyriel Y Ponsioen
    • , Heiko Runz
    • , Adolf Stiehl
    • , Cisca Wijmenga
    • , Martina Sterneck
    • , Severine Vermeire
    • , Ulrich Beuers
    • , Andreas Villunger
    • , Erik Schrumpf
    • , Konstantinos N Lazaridis
    • , Michael P Manns
    • , Stefan Schreiber
    •  & Tom H Karlsen
  • Brief Communication |

    Johannes Dauwerse and colleagues report the identification of mutations in the genes encoding subunits of RNA polymerases I and III, which are involved in transcription of rRNA and tRNA, in individuals with Treacher Collins syndrome. These findings support the hypothesis that TCS is a ribosomopathy.

    • Johannes G Dauwerse
    • , Jill Dixon
    • , Saskia Seland
    • , Claudia A L Ruivenkamp
    • , Arie van Haeringen
    • , Lies H Hoefsloot
    • , Dorien J M Peters
    • , Agnes Clement-de Boers
    • , Cornelia Daumer-Haas
    • , Robert Maiwald
    • , Christiane Zweier
    • , Bronwyn Kerr
    • , Ana M Cobo
    • , Joaquín F Toral
    • , A Jeannette M Hoogeboom
    • , Dietmar R Lohmann
    • , Ute Hehr
    • , Michael J Dixon
    • , Martijn H Breuning
    •  & Dagmar Wieczorek
  • Brief Communication |

    Bernd Wollnik and colleagues report mutations in CEP152 cause Seckel syndrome, which is characterized by short stature, severe microcephaly and mental retardation. The work suggests that CEP152 has a function in genome maintenance.

    • Ersan Kalay
    • , Gökhan Yigit
    • , Yakup Aslan
    • , Karen E Brown
    • , Esther Pohl
    • , Louise S Bicknell
    • , Hülya Kayserili
    • , Yun Li
    • , Beyhan Tüysüz
    • , Gudrun Nürnberg
    • , Wieland Kiess
    • , Manfred Koegl
    • , Ingelore Baessmann
    • , Kurtulus Buruk
    • , Bayram Toraman
    • , Saadettin Kayipmaz
    • , Sibel Kul
    • , Mevlit Ikbal
    • , Daniel J Turner
    • , Martin S Taylor
    • , Jan Aerts
    • , Carol Scott
    • , Karen Milstein
    • , Helene Dollfus
    • , Dagmar Wieczorek
    • , Han G Brunner
    • , Matthew Hurles
    • , Andrew P Jackson
    • , Anita Rauch
    • , Peter Nürnberg
    • , Ahmet Karagüzel
    •  & Bernd Wollnik

Articles

  • Article |

    Jason Carroll and colleagues report that the forkhead protein FOXA1 is an important determinant of estrogen receptor binding and show that expression of FOXA1 in non–breast cancer cells is sufficient to confer estrogen receptor binding and response to endocrine treatment.

    • Antoni Hurtado
    • , Kelly A Holmes
    • , Caryn S Ross-Innes
    • , Dominic Schmidt
    •  & Jason S Carroll
  • Article |

    Yoshiya Kawaguchi and colleagues show that a Sox9-positive progenitor pool located in the epithelia of the biliary and pancreatic ducts of adult mice serves as a continuous source of intestinal cells, hepatocytes and pancreatic acinar cells, identifying a shared pathway underlying the cellular renewal of these adult endodermal organs.

    • Kenichiro Furuyama
    • , Yoshiya Kawaguchi
    • , Haruhiko Akiyama
    • , Masashi Horiguchi
    • , Sota Kodama
    • , Takeshi Kuhara
    • , Shinichi Hosokawa
    • , Ashraf Elbahrawy
    • , Tsunemitsu Soeda
    • , Masayuki Koizumi
    • , Toshihiko Masui
    • , Michiya Kawaguchi
    • , Kyoichi Takaori
    • , Ryuichiro Doi
    • , Eiichiro Nishi
    • , Ryosuke Kakinoki
    • , Jian Min Deng
    • , Richard R Behringer
    • , Takashi Nakamura
    •  & Shinji Uemoto

Letters

  • Letter |

    Michel Georges and colleagues perform high-throughput resequencing of 63 positional candidate genes identified through genome-wide association studies to search for rare coding variants influencing risk of Crohn's disease. They identify low-frequency coding variants in IL23R that confer protection against inflammatory bowel disease but conclude that rare coding variants in these positional candidates do not make a large contribution to Crohn's disease risk.

    • Yukihide Momozawa
    • , Myriam Mni
    • , Kayo Nakamura
    • , Wouter Coppieters
    • , Sven Almer
    • , Leila Amininejad
    • , Isabelle Cleynen
    • , Jean-Frédéric Colombel
    • , Peter de Rijk
    • , Olivier Dewit
    • , Yigael Finkel
    • , Miquel A Gassull
    • , Dirk Goossens
    • , Debby Laukens
    • , Marc Lémann
    • , Cécile Libioulle
    • , Colm O'Morain
    • , Catherine Reenaers
    • , Paul Rutgeerts
    • , Curt Tysk
    • , Diana Zelenika
    • , Mark Lathrop
    • , Jurgen Del-Favero
    • , Jean-Pierre Hugot
    • , Martine de Vos
    • , Denis Franchimont
    • , Severine Vermeire
    • , Edouard Louis
    •  & Michel Georges
  • Letter |

    Loes van der Zanden and colleagues report results of a genome-wide association study of hypospadias, a common congenital malformation of the male external genitalia. They show that variants in DGKK on the X chromosome are associated with substantially elevated risk of this disorder.

    • Loes F M van der Zanden
    • , Iris A L M van Rooij
    • , Wout F J Feitz
    • , Jo Knight
    • , A Rogier T Donders
    • , Kirsten Y Renkema
    • , Ernie M H F Bongers
    • , Sita H H M Vermeulen
    • , Lambertus A L M Kiemeney
    • , Joris A Veltman
    • , Alejandro Arias-Vásquez
    • , Xufeng Zhang
    • , Ellen Markljung
    • , Liang Qiao
    • , Laurence S Baskin
    • , Agneta Nordenskjöld
    • , Nel Roeleveld
    • , Barbara Franke
    •  & Nine V A M Knoers
  • Letter |

    Krina Zondervan and colleagues report a genome-wide association study for endometriosis. The authors identify a susceptibility locus on chromosome 7p15.

    • Jodie N Painter
    • , Carl A Anderson
    • , Dale R Nyholt
    • , Stuart Macgregor
    • , Jianghai Lin
    • , Sang Hong Lee
    • , Ann Lambert
    • , Zhen Z Zhao
    • , Fenella Roseman
    • , Qun Guo
    • , Scott D Gordon
    • , Leanne Wallace
    • , Anjali K Henders
    • , Peter M Visscher
    • , Peter Kraft
    • , Nicholas G Martin
    • , Andrew P Morris
    • , Susan A Treloar
    • , Stephen H Kennedy
    • , Stacey A Missmer
    • , Grant W Montgomery
    •  & Krina T Zondervan
  • Letter |

    Zi-Jiang Chen and Yongyong Shi report a genome-wide association study for polycystic ovary syndrome, a common metabolic and endocrine disorder in women. They identified three susceptibility loci associated with this condition.

    • Zi-Jiang Chen
    • , Han Zhao
    • , Lin He
    • , Yuhua Shi
    • , Yingying Qin
    • , Yongyong Shi
    • , Zhiqiang Li
    • , Li You
    • , Junli Zhao
    • , Jiayin Liu
    • , Xiaoyan Liang
    • , Xiaoming Zhao
    • , Junzhao Zhao
    • , Yingpu Sun
    • , Bo Zhang
    • , Hong Jiang
    • , Dongni Zhao
    • , Yuehong Bian
    • , Xuan Gao
    • , Ling Geng
    • , Yiran Li
    • , Dongyi Zhu
    • , Xiuqin Sun
    • , Jin-e Xu
    • , Cuifang Hao
    • , Chun-e Ren
    • , Yajie Zhang
    • , Shiling Chen
    • , Wei Zhang
    • , Aijun Yang
    • , Junhao Yan
    • , Yuan Li
    • , Jinlong Ma
    •  & Yueran Zhao
  • Letter |

    Paul Brennan, Stephen Chanock and colleagues performed a genome-wide association study for renal carcinoma. They identified two genetic susceptibility loci.

    • Mark P Purdue
    • , Mattias Johansson
    • , Diana Zelenika
    • , Jorge R Toro
    • , Ghislaine Scelo
    • , Lee E Moore
    • , Egor Prokhortchouk
    • , Xifeng Wu
    • , Lambertus A Kiemeney
    • , Valerie Gaborieau
    • , Kevin B Jacobs
    • , Wong-Ho Chow
    • , David Zaridze
    • , Vsevolod Matveev
    • , Jan Lubinski
    • , Joanna Trubicka
    • , Neonila Szeszenia-Dabrowska
    • , Jolanta Lissowska
    • , Péter Rudnai
    • , Eleonora Fabianova
    • , Alexandru Bucur
    • , Vladimir Bencko
    • , Lenka Foretova
    • , Vladimir Janout
    • , Paolo Boffetta
    • , Joanne S Colt
    • , Faith G Davis
    • , Kendra L Schwartz
    • , Rosamonde E Banks
    • , Peter J Selby
    • , Patricia Harnden
    • , Christine D Berg
    • , Ann W Hsing
    • , Robert L Grubb III
    • , Heiner Boeing
    • , Paolo Vineis
    • , Françoise Clavel-Chapelon
    • , Domenico Palli
    • , Rosario Tumino
    • , Vittorio Krogh
    • , Salvatore Panico
    • , Eric J Duell
    • , José Ramón Quirós
    • , Maria-José Sanchez
    • , Carmen Navarro
    • , Eva Ardanaz
    • , Miren Dorronsoro
    • , Kay-Tee Khaw
    • , Naomi E Allen
    • , H Bas Bueno-de-Mesquita
    • , Petra H M Peeters
    • , Dimitrios Trichopoulos
    • , Jakob Linseisen
    • , Börje Ljungberg
    • , Kim Overvad
    • , Anne Tjønneland
    • , Isabelle Romieu
    • , Elio Riboli
    • , Anush Mukeria
    • , Oxana Shangina
    • , Victoria L Stevens
    • , Michael J Thun
    • , W Ryan Diver
    • , Susan M Gapstur
    • , Paul D Pharoah
    • , Douglas F Easton
    • , Demetrius Albanes
    • , Stephanie J Weinstein
    • , Jarmo Virtamo
    • , Lars Vatten
    • , Kristian Hveem
    • , Inger Njølstad
    • , Grethe S Tell
    • , Camilla Stoltenberg
    • , Rajiv Kumar
    • , Kvetoslava Koppova
    • , Olivier Cussenot
    • , Simone Benhamou
    • , Egbert Oosterwijk
    • , Sita H Vermeulen
    • , Katja K H Aben
    • , Saskia L van der Marel
    • , Yuanqing Ye
    • , Christopher G Wood
    • , Xia Pu
    • , Alexander M Mazur
    • , Eugenia S Boulygina
    • , Nikolai N Chekanov
    • , Mario Foglio
    • , Doris Lechner
    • , Ivo Gut
    • , Simon Heath
    • , Hélène Blanche
    • , Amy Hutchinson
    • , Gilles Thomas
    • , Zhaoming Wang
    • , Meredith Yeager
    • , Joseph F Fraumeni Jr
    • , Konstantin G Skryabin
    • , James D McKay
    • , Nathaniel Rothman
    • , Stephen J Chanock
    • , Mark Lathrop
    •  & Paul Brennan
  • Letter |

    Emmanuel Mignot and colleagues report genome-wide association analyses identifying a new susceptibility locus for narcolepsy. They identify associated variants in the 3′ untranslated region of P2RY11, a purinergic receptor that modulates immune cell viability.

    • 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
  • Letter |

    Michel Georges and colleagues identify a founder mutation in CCDC39 associated with primary ciliary dyskinesia in Old English Sheepdogs. They further show that mutations in human CCDC39 cause a similar phenotype and that CCDC39 is required for the assembly of inner dynein arms and the dynein regulatory complex.

    • Anne-Christine Merveille
    • , Erica E Davis
    • , Anita Becker-Heck
    • , Marie Legendre
    • , Israel Amirav
    • , Géraldine Bataille
    • , John Belmont
    • , Nicole Beydon
    • , Frédéric Billen
    • , Annick Clément
    • , Cécile Clercx
    • , André Coste
    • , Rachelle Crosbie
    • , Jacques de Blic
    • , Stephane Deleuze
    • , Philippe Duquesnoy
    • , Denise Escalier
    • , Estelle Escudier
    • , Manfred Fliegauf
    • , Judith Horvath
    • , Kent Hill
    • , Mark Jorissen
    • , Jocelyne Just
    • , Andreas Kispert
    • , Mark Lathrop
    • , Niki Tomas Loges
    • , June K Marthin
    • , Yukihide Momozawa
    • , Guy Montantin
    • , Kim G Nielsen
    • , Heike Olbrich
    • , Jean-François Papon
    • , Isabelle Rayet
    • , Gilles Roger
    • , Miriam Schmidts
    • , Henrique Tenreiro
    • , Jeffrey A Towbin
    • , Diana Zelenika
    • , Hanswalter Zentgraf
    • , Michel Georges
    • , Anne-Sophie Lequarré
    • , Nicholas Katsanis
    • , Heymut Omran
    •  & Serge Amselem
  • Letter |

    Rebecca Burdine and colleagues show that CCDC40 is required for motile cilia function and correct left-right patterning in mouse, zebrafish and humans. Their findings highlight an essential role for CCDC40 in the assembly of inner dynein arms and dynein regulatory complexes.

    • Anita Becker-Heck
    • , Irene E Zohn
    • , Noriko Okabe
    • , Andrew Pollock
    • , Kari Baker Lenhart
    • , Jessica Sullivan-Brown
    • , Jason McSheene
    • , Niki T Loges
    • , Heike Olbrich
    • , Karsten Haeffner
    • , Manfred Fliegauf
    • , Judith Horvath
    • , Richard Reinhardt
    • , Kim G Nielsen
    • , June K Marthin
    • , Gyorgy Baktai
    • , Kathryn V Anderson
    • , Robert Geisler
    • , Lee Niswander
    • , Heymut Omran
    •  & Rebecca D Burdine