Nature Genetics Contents: November 2014 pp 1153-1249

If you are unable to see the message below, click here to view.

Advertisement The LightCycler® 96 Real-Time PCR System Innovative. Intuitive. Accurate. Now with HRM. Innovative optics for accurate results: Simultaneously capture 96 wells of data for maximum well-to-well consistency. Intuitive touchscreen interface and powerful data analysis software: Speed time to results with an advanced, easy-to-use system. Fast, precise HRM with more data points per °C: Detect all sequence variants, including class III SNPs, in less than 90 minutes. To learn more, please visit www.lightcycler96.com TABLE OF CONTENTS November 2014 Volume 46, Issue 11 Editorial News and Views Research Highlights Analysis Brief Communications Articles Letters Subscribe   Facebook   RSS   Recommend to library   Twitter   Advertisement Nature Collections Clinical applications of next-generation sequencing This special Collection highlights the breadth of applications of next-generation sequencing technologies in the clinic and the importance of the insights that are being gained through these methods to improve health. Produced with support from Life Technologies, a brand of Thermo Fisher Scientific.     Editorial Top Human Genome Variation   p1153 doi:10.1038/ng.3140 We wholeheartedly endorse this new journal concentrating on variants causing and associated with disease and trait phenotypes, especially the Data Report format for rapid publication and the database dissemination of the full spectrum of findings from a single familial variant to a comprehensive locus review. News and Views Top PRC2 loss amplifies Ras signaling in cancer   pp1154 - 1155 Annika Baude, Anders M Lindroth & Christoph Plass doi:10.1038/ng.3124 The histone-modifying PRC2 complex has an ambiguous role in cancer, bearing both oncogenic and tumor-suppressive features depending on cell type. Studies of malignant peripheral nerve sheath tumors (MPNSTs) have now identified loss-of-function mutations altering PRC2 subunits, leading to the amplification of Ras-driven transcription and conferring vulnerability to BRD4 inhibitors. See also: Brief Communication by Zhang et al. | Letter by Lee et al. SPRTN is a new player in an old story   pp1155 - 1157 Kevin Hiom doi:10.1038/ng.3125 A new study identifies rare mutations in SPRTN that cause a novel progeroid syndrome. The results point to an unexpected function of SPRTN and bring insight to the mechanisms that link premature aging and cancer. See also: Letter by Lessel et al. Cohesin embraces new phenotypes   pp1157 - 1158 Ian D Krantz doi:10.1038/ng.3123 A new study identifies homozygous missense mutations in SGOL1, which encodes a component of the cohesin complex, in a newly described disorder termed Chronic Atrial and Intestinal Dysrhythmia (CAID) syndrome. These findings implicate cohesin in the regulation of intrinsic cardiac and intestinal rhythm and further expand the growing group of disorders termed the cohesinopathies. See also: Letter by Chetaille et al. Genetics JOBS of the week Faculty Position- Genetics Memorial University of Newfoundland Assistant Professor in Medical Genetics (Allergy) University of Tsukuba Post-doctoral Research Fellows in Human Genetics Genome Institute of Singapore Computational Postdoctoral Fellowship in Behavioral Genetics and Genomics University of North Carolina at Chapel Hill Postdoctoral Position in Cancer Genetics The Hospital for Sick Children Research Institute More Science jobs from Genetics EVENT Malaria Experimental Genetics 15.03.15 Bangkok, Thailand More science events from Research Highlights Top FANCM and breast cancer risk | HIV-1 origins and spread | Kabuki syndrome and HDAC inhibitors | Flies point to human disease genes | GAPLINC and gastric cancer Analysis Top Genome-wide analysis of noncoding regulatory mutations in cancer   pp1160 - 1165 Nils Weinhold, Anders Jacobsen, Nikolaus Schultz, Chris Sander & William Lee doi:10.1038/ng.3101 William Lee and colleagues present a systematic analysis of noncoding somatic mutations in 863 tumor samples representing over 20 cancer types. They identify new mutation hotspots as well as genes with frequent mutations in their promoter regions, including WDR74 and SDHD. Brief Communications Top Hotspot activating PRKD1 somatic mutations in polymorphous low-grade adenocarcinomas of the salivary glands   pp1166 - 1169 Ilan Weinreb, Salvatore Piscuoglio, Luciano G Martelotto, Daryl Waggott, Charlotte K Y Ng, Bayardo Perez-Ordonez, Nicholas J Harding, Javier Alfaro, Kenneth C Chu, Agnes Viale, Nicola Fusco, Arnaud da Cruz Paula, Caterina Marchio, Rita A Sakr, Raymond Lim, Lester D R Thompson, Simion I Chiosea, Raja R Seethala, Alena Skalova, Edward B Stelow, Isabel Fonseca, Adel Assaad, Christine How, Jianxin Wang, Richard de Borja, Michelle Chan-Seng-Yue, Christopher J Howlett, Anthony C Nichols, Y Hannah Wen, Nora Katabi, Nicholas Buchner, Laura Mullen, Thomas Kislinger, Bradly G Wouters, Fei-Fei Liu, Larry Norton, John D McPherson, Brian P Rubin, Blaise A Clarke, Britta Weigelt, Paul C Boutros & Jorge S Reis-Filho doi:10.1038/ng.3096 Jorge Reis-Filho and colleagues identify recurrent mutations in PRKD1 in 73% of polymorphous low-grade adenocarcinoma, a malignant tumor of the minor salivary glands. The mutations cause activation of the PRKD1 serine-threonine kinase. Somatic mutations of SUZ12 in malignant peripheral nerve sheath tumors   pp1170 - 1172 Ming Zhang, Yuxuan Wang, Sian Jones, Mark Sausen, Kevin McMahon, Rajni Sharma, Qing Wang, Allan J Belzberg, Kaisorn Chaichana, Gary L Gallia, Ziya L Gokaslan, Greg J Riggins, Jean-Paul Wolinksy, Laura D Wood, Elizabeth A Montgomery, Ralph H Hruban, Kenneth W Kinzler, Nickolas Papadopoulos, Bert Vogelstein & Chetan Bettegowda doi:10.1038/ng.3116 Chetan Bettegowda, Bert Vogelstein and colleagues identify somatic mutations of SUZ12 in malignant peripheral nerve sheath tumors from individuals with and without neurofibromatosis. SUZ12 encodes a chromatin-modifying protein and is located adjacent to the NF1 gene on chromosome 17q11. The data support a 'three-hit' model of tumor suppression. See also: News and Views by Baude et al. Articles Top Defining the role of common variation in the genomic and biological architecture of adult human height   pp1173 - 1186 Andrew R Wood, Tonu Esko, Jian Yang, Sailaja Vedantam, Tune H Pers, Stefan Gustafsson, Audrey Y Chu, Karol Estrada, Jian'an Luan, Zoltán Kutalik, Najaf Amin, Martin L Buchkovich, Damien C Croteau-Chonka, Felix R Day, Yanan Duan, Tove Fall, Rudolf Fehrmann, Teresa Ferreira, Anne U Jackson, Juha Karjalainen, Ken Sin Lo, Adam E Locke, Reedik Mägi, Evelin Mihailov, Eleonora Porcu, Joshua C Randall, André Scherag, Anna A E Vinkhuyzen, Harm-Jan Westra, Thomas W Winkler, Tsegaselassie Workalemahu, Jing Hua Zhao, Devin Absher, Eva Albrecht, Denise Anderson, Jeffrey Baron, Marian Beekman, Ayse Demirkan, Georg B Ehret, Bjarke Feenstra, Mary F Feitosa, Krista Fischer, Ross M Fraser, Anuj Goel, Jian Gong, Anne E Justice, Stavroula Kanoni, Marcus E Kleber, Kati Kristiansson, Unhee Lim, Vaneet Lotay, Julian C Lui, Massimo Mangino, Irene Mateo Leach, Carolina Medina-Gomez, Michael A Nalls, Dale R Nyholt, Cameron D Palmer, Dorota Pasko, Sonali Pechlivanis, Inga Prokopenko, Janina S Ried, Stephan Ripke, Dmitry Shungin, Alena Stancáková, Rona J Strawbridge, Yun Ju Sung, Toshiko Tanaka, Alexander Teumer, Stella Trompet, Sander W van der Laan, Jessica van Setten, Jana V Van Vliet-Ostaptchouk, Zhaoming Wang, Loïc Yengo, Weihua Zhang, Uzma Afzal, Johan Ärnlöv, Gillian M Arscott, Stefania Bandinelli, Amy Barrett, Claire Bellis, Amanda J Bennett, Christian Berne, Matthias Blüher, Jennifer L Bolton, Yvonne Böttcher, Heather A Boyd, Marcel Bruinenberg, Brendan M Buckley, Steven Buyske, Ida H Caspersen, Peter S Chines, Robert Clarke, Simone Claudi-Boehm, Matthew Cooper, E Warwick Daw, Pim A De Jong, Joris Deelen, Graciela Delgado, Josh C Denny, Rosalie Dhonukshe-Rutten, Maria Dimitriou, Alex S F Doney, Marcus Dörr, Niina Eklund, Elodie Eury, Lasse Folkersen, Melissa E Garcia, Frank Geller, Vilmantas Giedraitis, Alan S Go, Harald Grallert, Tanja B Grammer, Jürgen Gräßler, Henrik Grönberg, Lisette C P G M de Groot, Christopher J Groves, Jeffrey Haessler, Per Hall, Toomas Haller, Goran Hallmans, Anke Hannemann, Catharina A Hartman, Maija Hassinen, Caroline Hayward, Nancy L Heard-Costa, Quinta Helmer, Gibran Hemani, Anjali K Henders, Hans L Hillege, Mark A Hlatky, Wolfgang Hoffmann, Per Hoffmann, Oddgeir Holmen, Jeanine J Houwing-Duistermaat, Thomas Illig, Aaron Isaacs, Alan L James, Janina Jeff, Berit Johansen, Åsa Johansson, Jennifer Jolley, Thorhildur Juliusdottir, Juhani Junttila, Abel N Kho, Leena Kinnunen, Norman Klopp, Thomas Kocher, Wolfgang Kratzer, Peter Lichtner, Lars Lind, Jaana Lindström, Stéphane Lobbens, Mattias Lorentzon, Yingchang Lu, Valeriya Lyssenko, Patrik K E Magnusson, Anubha Mahajan, Marc Maillard, Wendy L McArdle, Colin A McKenzie, Stela McLachlan, Paul J McLaren, Cristina Menni, Sigrun Merger, Lili Milani, Alireza Moayyeri, Keri L Monda, Mario A Morken, Gabriele Müller, Martina Müller-Nurasyid, Arthur W Musk, Narisu Narisu, Matthias Nauck, Ilja M Nolte, Markus M Nöthen, Laticia Oozageer, Stefan Pilz, Nigel W Rayner, Frida Renstrom, Neil R Robertson, Lynda M Rose, Ronan Roussel, Serena Sanna, Hubert Scharnagl, Salome Scholtens, Fredrick R Schumacher, Heribert Schunkert, Robert A Scott, Joban Sehmi, Thomas Seufferlein, Jianxin Shi, Karri Silventoinen, Johannes H Smit, Albert Vernon Smith, Joanna Smolonska, Alice V Stanton, Kathleen Stirrups, David J Stott, Heather M Stringham, Johan Sundström, Morris A Swertz, Ann-Christine Syvänen, Bamidele O Tayo, Gudmar Thorleifsson, Jonathan P Tyrer, Suzanne van Dijk, Natasja M van Schoor, Nathalie van der Velde, Diana van Heemst, Floor V A van Oort, Sita H Vermeulen, Niek Verweij, Judith M Vonk, Lindsay L Waite, Melanie Waldenberger, Roman Wennauer, Lynne R Wilkens, Christina Willenborg, Tom Wilsgaard, Mary K Wojczynski, Andrew Wong, Alan F Wright, Qunyuan Zhang, Dominique Arveiler, Stephan J L Bakker, John Beilby, Richard N Bergman, Sven Bergmann, Reiner Biffar, John Blangero, Dorret I Boomsma, Stefan R Bornstein, Pascal Bovet, Paolo Brambilla, Morris J Brown, Harry Campbell, Mark J Caulfield, Aravinda Chakravarti, Rory Collins, Francis S Collins, Dana C Crawford, L Adrienne Cupples, John Danesh, Ulf de Faire, Hester M den Ruijter, Raimund Erbel, Jeanette Erdmann, Johan G Eriksson, Martin Farrall, Ele Ferrannini, Jean Ferrières, Ian Ford, Nita G Forouhi, Terrence Forrester, Ron T Gansevoort, Pablo V Gejman, Christian Gieger, Alain Golay, Omri Gottesman, Vilmundur Gudnason, Ulf Gyllensten, David W Haas, Alistair S Hall, Tamara B Harris, Andrew T Hattersley, Andrew C Heath, Christian Hengstenberg, Andrew A Hicks, Lucia A Hindorff, Aroon D Hingorani, Albert Hofman, G Kees Hovingh, Steve E Humphries, Steven C Hunt, Elina Hypponen, Kevin B Jacobs, Marjo-Riitta Jarvelin, Pekka Jousilahti, Antti M Jula, Jaakko Kaprio, John J P Kastelein, Manfred Kayser, Frank Kee, Sirkka M Keinanen-Kiukaanniemi, Lambertus A Kiemeney, Jaspal S Kooner, Charles Kooperberg, Seppo Koskinen, Peter Kovacs, Aldi T Kraja, Meena Kumari, Johanna Kuusisto, Timo A Lakka, Claudia Langenberg, Loic Le Marchand, Terho Lehtimäki, Sara Lupoli, Pamela A F Madden, Satu Männistö, Paolo Manunta, André Marette, Tara C Matise, Barbara McKnight, Thomas Meitinger, Frans L Moll, Grant W Montgomery, Andrew D Morris, Andrew P Morris, Jeffrey C Murray, Mari Nelis, Claes Ohlsson, Albertine J Oldehinkel, Ken K Ong, Willem H Ouwehand, Gerard Pasterkamp, Annette Peters, Peter P Pramstaller, Jackie F Price, Lu Qi, Olli T Raitakari, Tuomo Rankinen, D C Rao, Treva K Rice, Marylyn Ritchie, Igor Rudan, Veikko Salomaa, Nilesh J Samani, Jouko Saramies, Mark A Sarzynski, Peter E H Schwarz, Sylvain Sebert, Peter Sever, Alan R Shuldiner, Juha Sinisalo, Valgerdur Steinthorsdottir, Ronald P Stolk, Jean-Claude Tardif, Anke Tönjes, Angelo Tremblay, Elena Tremoli, Jarmo Virtamo, Marie-Claude Vohl, The Electronic Medical Records and Genomics (eMERGE) Consortium, The MIGen Consortium, The PAGE Consortium, The LifeLines Cohort Study, Philippe Amouyel, Folkert W Asselbergs, Themistocles L Assimes, Murielle Bochud, Bernhard O Boehm, Eric Boerwinkle, Erwin P Bottinger, Claude Bouchard, Stéphane Cauchi, John C Chambers, Stephen J Chanock, Richard S Cooper, Paul I W de Bakker, George Dedoussis, Luigi Ferrucci, Paul W Franks, Philippe Froguel, Leif C Groop, Christopher A Haiman, Anders Hamsten, M Geoffrey Hayes, Jennie Hui, David J Hunter, Kristian Hveem, J Wouter Jukema, Robert C Kaplan, Mika Kivimaki, Diana Kuh, Markku Laakso, Yongmei Liu, Nicholas G Martin, Winfried März, Mads Melbye, Susanne Moebus, Patricia B Munroe, Inger Njølstad, Ben A Oostra, Colin N A Palmer, Nancy L Pedersen, Markus Perola, Louis Pérusse, Ulrike Peters, Joseph E Powell, Chris Power, Thomas Quertermous, Rainer Rauramaa, Eva Reinmaa, Paul M Ridker, Fernando Rivadeneira, Jerome I Rotter, Timo E Saaristo, Danish Saleheen, David Schlessinger, P Eline Slagboom, Harold Snieder, Tim D Spector, Konstantin Strauch, Michael Stumvoll, Jaakko Tuomilehto, Matti Uusitupa, Pim van der Harst, Henry Völzke, Mark Walker, Nicholas J Wareham, Hugh Watkins, H-Erich Wichmann, James F Wilson, Pieter Zanen, Panos Deloukas, Iris M Heid, Cecilia M Lindgren, Karen L Mohlke, Elizabeth K Speliotes, Unnur Thorsteinsdottir, Inês Barroso, Caroline S Fox, Kari E North, David P Strachan, Jacques S Beckmann, Sonja I Berndt, Michael Boehnke, Ingrid B Borecki, Mark I McCarthy, Andres Metspalu, Kari Stefansson, André G Uitterlinden, Cornelia M van Duijn, Lude Franke, Cristen J Willer, Alkes L Price, Guillaume Lettre, Ruth J F Loos, Michael N Weedon, Erik Ingelsson, Jeffrey R O'Connell, Goncalo R Abecasis, Daniel I Chasman, Michael E Goddard, Peter M Visscher, Joel N Hirschhorn & Timothy M Frayling doi:10.1038/ng.3097 Timothy Frayling, Joel Hirschhorn, Peter Visscher and colleagues report a meta-analysis of genome-wide association studies for adult height in 253,288 individuals. They identify 697 variants in 423 loci significantly associated with adult height and find that these variants cluster in pathways involved in growth and together explain one-fifth of the heritability for this trait. Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens   pp1187 - 1196 Krzysztof Kiryluk, Yifu Li, Francesco Scolari, Simone Sanna-Cherchi, Murim Choi, Miguel Verbitsky, David Fasel, Sneh Lata, Sindhuri Prakash, Samantha Shapiro, Clara Fischman, Holly J Snyder, Gerald Appel, Claudia Izzi, Battista Fabio Viola, Nadia Dallera, Lucia Del Vecchio, Cristina Barlassina, Erika Salvi, Francesca Eleonora Bertinetto, Antonio Amoroso, Silvana Savoldi, Marcella Rocchietti, Alessandro Amore, Licia Peruzzi, Rosanna Coppo, Maurizio Salvadori, Pietro Ravani, Riccardo Magistroni, Gian Marco Ghiggeri, Gianluca Caridi, Monica Bodria, Francesca Lugani, Landino Allegri, Marco Delsante, Mariarosa Maiorana, Andrea Magnano, Giovanni Frasca, Emanuela Boer, Giuliano Boscutti, Claudio Ponticelli, Renzo Mignani, Carmelita Marcantoni, Domenico Di Landro, Domenico Santoro, Antonello Pani, Rosaria Polci, Sandro Feriozzi, Silvana Chicca, Marco Galliani, Maddalena Gigante, Loreto Gesualdo, Pasquale Zamboli, Giovanni Giorgio Battaglia, Maurizio Garozzo, Dita Maixnerová, Vladimir Tesar, Frank Eitner, Thomas Rauen, Jürgen Floege, Tibor Kovacs, Judit Nagy, Krzysztof Mucha, Leszek Pączek, Marcin Zaniew, Małgorzata Mizerska-Wasiak, Maria Roszkowska-Blaim, Krzysztof Pawlaczyk, Daniel Gale, Jonathan Barratt, Lise Thibaudin, Francois Berthoux, Guillaume Canaud, Anne Boland, Marie Metzger, Ulf Panzer, Hitoshi Suzuki, Shin Goto, Ichiei Narita, Yasar Caliskan, Jingyuan Xie, Ping Hou, Nan Chen, Hong Zhang, Robert J Wyatt, Jan Novak, Bruce A Julian, John Feehally, Benedicte Stengel, Daniele Cusi, Richard P Lifton & Ali G Gharavi doi:10.1038/ng.3118 Ali Gharavi and colleagues report a genome-wide association analysis of IgA nephropathy in over 20,000 individuals of European and East Asian ancestry. They identify genome-wide significant signals at three new loci near VAV3, CARD9 and ITGAM-ITGAX and correlations between genetic risk and pathogen diversity. Reappraisal of known malaria resistance loci in a large multicenter study   pp1197 - 1204 Malaria Genomic Epidemiology Network doi:10.1038/ng.3107 The Malaria Genomic Epidemiology Network reports a large multicenter association study for severe malaria due to Plasmodium falciparum in 11,890 cases and 17,441 controls from 12 locations in Africa, Asia and Oceania. They examine 27 loci previously associated with severe malaria and replicate associations at the HBB, ABO, ATP2B4, G6PD and CD40LG loci, but they fail to replicate other previously reported associations. Recombination drives genome evolution in outbreak-related Legionella pneumophila isolates   pp1205 - 1211 Leonor Sánchez-Busó, Iñaki Comas, Guillermo Jorques & Fernando González-Candelas doi:10.1038/ng.3114 Fernando González-Candelas and colleagues report the whole-genome sequencing of 69 Legionella pneumophila strains linked to recurrent outbreaks in Alcoy, Spain, over the course of 11 years. They characterize the evolution and epidemiology of this environmental pathogen. Genome sequence and genetic diversity of the common carp, Cyprinus carpio OPEN   pp1212 - 1219 Peng Xu, Xiaofeng Zhang, Xumin Wang, Jiongtang Li, Guiming Liu, Youyi Kuang, Jian Xu, Xianhu Zheng, Lufeng Ren, Guoliang Wang, Yan Zhang, Linhe Huo, Zixia Zhao, Dingchen Cao, Cuiyun Lu, Chao Li, Yi Zhou, Zhanjiang Liu, Zhonghua Fan, Guangle Shan, Xingang Li, Shuangxiu Wu, Lipu Song, Guangyuan Hou, Yanliang Jiang, Zsigmond Jeney, Dan Yu, Li Wang, Changjun Shao, Lai Song, Jing Sun, Peifeng Ji, Jian Wang, Qiang Li, Liming Xu, Fanyue Sun, Jianxin Feng, Chenghui Wang, Shaolin Wang, Baosen Wang, Yan Li, Yaping Zhu, Wei Xue, Lan Zhao, Jintu Wang, Ying Gu, Weihua Lv, Kejing Wu, Jingfa Xiao, Jiayan Wu, Zhang Zhang, Jun Yu & Xiaowen Sun doi:10.1038/ng.3098 Xiaowen Sun and colleagues report the whole-genome sequencing of the common carp, Cyprinus carpio. They also resequenced 33 representative accessions from a worldwide collection and provide insights into population structure and evolution. Genomic analyses provide insights into the history of tomato breeding   pp1220 - 1226 Tao Lin, Guangtao Zhu, Junhong Zhang, Xiangyang Xu, Qinghui Yu, Zheng Zheng, Zhonghua Zhang, Yaoyao Lun, Shuai Li, Xiaoxuan Wang, Zejun Huang, Junming Li, Chunzhi Zhang, Taotao Wang, Yuyang Zhang, Aoxue Wang, Yancong Zhang, Kui Lin, Chuanyou Li, Guosheng Xiong, Yongbiao Xue, Andrea Mazzucato, Mathilde Causse, Zhangjun Fei, James J Giovannoni, Roger T Chetelat, Dani Zamir, Thomas Städler, Jingfu Li, Zhibiao Ye, Yongchen Du & Sanwen Huang doi:10.1038/ng.3117 Sanwen Huang and colleagues report a comprehensive analysis of genetic variation in tomato based on the genome sequencing of 360 distinct accessions. The work provides insights into the history of tomato domestication and represents a rich resource for studying the genetic basis of trait variation in this important crop plant. Letters Top PRC2 is recurrently inactivated through EED or SUZ12 loss in malignant peripheral nerve sheath tumors   pp1227 - 1232 William Lee, Sewit Teckie, Thomas Wiesner, Leili Ran, Carlos N Prieto Granada, Mingyan Lin, Sinan Zhu, Zhen Cao, Yupu Liang, Andrea Sboner, William D Tap, Jonathan A Fletcher, Kety H Huberman, Li-Xuan Qin, Agnes Viale, Samuel Singer, Deyou Zheng, Michael F Berger, Yu Chen, Cristina R Antonescu & Ping Chi doi:10.1038/ng.3095 Ping Chi and colleagues identify recurrent inactivating mutations in the PRC2 core components EED and SUZ12 in malignant peripheral nerve sheath tumors. They further show that PRC2 loss is associated with loss of H3K27 trimethylation and aberrant expression of PRC2 target genes and downstream pathways. See also: News and Views by Baude et al. Genome-wide association study identifies multiple susceptibility loci for diffuse large B cell lymphoma   pp1233 - 1238 James R Cerhan, Sonja I Berndt, Joseph Vijai, Hervé Ghesquières, James McKay, Sophia S Wang, Zhaoming Wang, Meredith Yeager, Lucia Conde, Paul I W de Bakker, Alexandra Nieters, David Cox, Laurie Burdett, Alain Monnereau, Christopher R Flowers, Anneclaire J De Roos, Angela R Brooks-Wilson, Qing Lan, Gianluca Severi, Mads Melbye, Jian Gu, Rebecca D Jackson, Eleanor Kane, Lauren R Teras, Mark P Purdue, Claire M Vajdic, John J Spinelli, Graham G Giles, Demetrius Albanes, Rachel S Kelly, Mariagrazia Zucca, Kimberly A Bertrand, Anne Zeleniuch-Jacquotte, Charles Lawrence, Amy Hutchinson, Degui Zhi, Thomas M Habermann, Brian K Link, Anne J Novak, Ahmet Dogan, Yan W Asmann, Mark Liebow, Carrie A Thompson, Stephen M Ansell, Thomas E Witzig, George J Weiner, Amelie S Veron, Diana Zelenika, Hervé Tilly, Corinne Haioun, Thierry Jo Molina, Henrik Hjalgrim, Bengt Glimelius, Hans-Olov Adami, Paige M Bracci, Jacques Riby, Martyn T Smith, Elizabeth A Holly, Wendy Cozen, Patricia Hartge, Lindsay M Morton, Richard K Severson, Lesley F Tinker, Kari E North, Nikolaus Becker, Yolanda Benavente, Paolo Boffetta, Paul Brennan, Lenka Foretova, Marc Maynadie, Anthony Staines, Tracy Lightfoot, Simon Crouch, Alex Smith, Eve Roman, W Ryan Diver, Kenneth Offit, Andrew Zelenetz, Robert J Klein, Danylo J Villano, Tongzhang Zheng, Yawei Zhang, Theodore R Holford, Anne Kricker, Jenny Turner, Melissa C Southey, Jacqueline Clavel, Jarmo Virtamo, Stephanie Weinstein, Elio Riboli, Paolo Vineis, Rudolph Kaaks, Dimitrios Trichopoulos, Roel C H Vermeulen, Heiner Boeing, Anne Tjonneland, Emanuele Angelucci, Simonetta Di Lollo, Marco Rais, Brenda M Birmann, Francine Laden, Edward Giovannucci, Peter Kraft, Jinyan Huang, Baoshan Ma, Yuanqing Ye, Brian C H Chiu, Joshua Sampson, Liming Liang, Ju-Hyun Park, Charles C Chung, Dennis D Weisenburger, Nilanjan Chatterjee, Joseph F Fraumeni Jr, Susan L Slager, Xifeng Wu, Silvia de Sanjose, Karin E Smedby, Gilles Salles, Christine F Skibola, Nathaniel Rothman & Stephen J Chanock doi:10.1038/ng.3105 James Cerhan and colleagues report genome-wide association and meta-analysis studies to identify genetic susceptibility loci for diffuse large B cell lymphoma. They identify four loci that influence genetic susceptibility to this B cell malignancy. Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features   pp1239 - 1244 Davor Lessel, Bruno Vaz, Swagata Halder, Paul J Lockhart, Ivana Marinovic-Terzic, Jaime Lopez-Mosqueda, Melanie Philipp, Joe C H Sim, Katherine R Smith, Judith Oehler, Elisa Cabrera, Raimundo Freire, Kate Pope, Amsha Nahid, Fiona Norris, Richard J Leventer, Martin B Delatycki, Gotthold Barbi, Simon von Ameln, Josef Högel, Marina Degoricija, Regina Fertig, Martin D Burkhalter, Kay Hofmann, Holger Thiele, Janine Altmüller, Gudrun Nürnberg, Peter Nürnberg, Melanie Bahlo, George M Martin, Cora M Aalfs, Junko Oshima, Janos Terzic, David J Amor, Ivan Dikic, Kristijan Ramadan & Christian Kubisch doi:10.1038/ng.3103 Kristijan Ramadan and colleagues report the identification of three individuals from two families with biallelic inactivating mutations in SPRTN causing early onset hepatocellular carcinoma and defects in the DNA replication stress response. Functional studies confirmed critical roles for SPRTN in G2/M checkpoint response and DNA replication. See also: News and Views by Hiom Mutations in SGOL1 cause a novel cohesinopathy affecting heart and gut rhythm   pp1245 - 1249 Philippe Chetaille, Christoph Preuss, Silja Burkhard, Jean-Marc Côté, Christine Houde, Julie Castilloux, Jessica Piché, Natacha Gosset, Séverine Leclerc, Florian Wünnemann, Maryse Thibeault, Carmen Gagnon, Antonella Galli, Elizabeth Tuck, Gilles R Hickson, Nour El Amine, Ines Boufaied, Emmanuelle Lemyre, Pascal de Santa Barbara, Sandrine Faure, Anders Jonzon, Michel Cameron, Harry C Dietz, Elena Gallo-McFarlane, D Woodrow Benson, Claudia Moreau, Damian Labuda, FORGE Canada Consortium, Shing H Zhan, Yaoqing Shen, Michèle Jomphe, Steven J M Jones, Jeroen Bakkers & Gregor Andelfinger doi:10.1038/ng.3113 Gregor Andelfinger and colleagues identify mutations in SGOL1 that cause a novel cohesinopathy characterized by chronic atrial and intestinal dysrhythmia, termed CAID syndrome. SGOL1 encodes a component of the cohesin complex, suggesting that cardiac and gut rhythm are regulated by this complex. See also: News and Views by Krantz Top Advertisement Nature Genetics, the Chinese Academy of Agricultural Sciences, and the Chinese Academy of Sciences present: Agricultural Genomics - From Variation to Crops November 10-12, 2014 Soluxe International Convention Center, Beijing, China  Click here for more information or to register for this conference today!       Natureevents is a fully searchable, multi-disciplinary database designed to maximise exposure for events organisers. The contents of the Natureevents Directory are now live. The digital version is available here. Find the latest scientific conferences, courses, meetings and symposia on natureevents.com. For event advertising opportunities across the Nature Publishing Group portfolio please contact natureevents@nature.com More Nature Events

You have been sent this Table of Contents Alert because you have opted in to receive it. You can change or discontinue your e-mail alerts at any time, by modifying your preferences on your nature.com account at: www.nature.com/myaccount (You will need to log in to be recognised as a nature.com registrant) For further technical assistance, please contact our registration department For print subscription enquiries, please contact our subscription department For other enquiries, please contact our customer feedback department Nature Publishing Group | 75 Varick Street, 9th Floor | New York | NY 10013-1917 | USA Nature Publishing Group's worldwide offices: London - Paris - Munich - New Delhi - Tokyo - Melbourne San Diego - San Francisco - Washington - New York - Boston Macmillan Publishers Limited is a company incorporated in England and Wales under company number 785998 and whose registered office is located at Brunel Road, Houndmills, Basingstoke, Hampshire RG21 6XS. © 2014 Nature Publishing Group, a division of Macmillan Publishers Limited. All Rights Reserved.