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TABLE OF CONTENTS
| August 2013 Volume 45, Issue 8 |  | | |  |  Editorial
Correspondence
News and Views
Research Highlights
Analysis
Articles
Letters
Corrigenda | | | | | |
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|  | | | | | Editorial |  Top | |  | | Ministry of Noise p843
doi:10.1038/ng.2724
The standards set by the US National Institutes of Health (NIH) for the description, registration and stewardship of large biomedical data sets will be an effective lever, if presented in the form of rules, to guide community and commercial solutions for data analysis and reuse. | | Correspondence | Top | | | | The phylogenetic relationships of US maize germplasm pp844 - 845
Aaron Lorenz and Thomas Hoegemeyer
doi:10.1038/ng.2697 | | News and Views | Top | | | | | | Research Highlights | Top | | | | Microbial stability in the human gut | Integrin β3 in MLL-AF9 leukemia | DNA methylation and the brain | Evolution of human limb development | Oncogenic microRNA | Analysis | Top | | | | DNase I-hypersensitive exons colocalize with promoters and distal regulatory elements pp852 - 859
Tim R Mercer, Stacey L Edwards, Michael B Clark, Shane J Neph, Hao Wang, Andrew B Stergachis, Sam John, Richard Sandstrom, Guoliang Li, Kuljeet S Sandhu, Yijun Ruan, Lars K Nielsen, John S Mattick & John A Stamatoyannopoulos
doi:10.1038/ng.2677
John Stamatoyannopoulos, John Mattick and colleagues use DNase I-hypersensitive site maps from 86 diverse cell types to identify a subset of exons that have DNase I hypersensitivity and are accompanied by 'phantom' signals in chromatin immunoprecipitation and sequencing (ChIP-seq) resulting from cross-linking with proximal promoter- or enhancer-bound factors. | | | Advertisement | | | | | | | Articles | Top | | | | Integrated molecular analysis of clear-cell renal cell carcinoma pp860 - 867
Yusuke Sato, Tetsuichi Yoshizato, Yuichi Shiraishi, Shigekatsu Maekawa, Yusuke Okuno, Takumi Kamura, Teppei Shimamura, Aiko Sato-Otsubo, Genta Nagae, Hiromichi Suzuki, Yasunobu Nagata, Kenichi Yoshida, Ayana Kon, Yutaka Suzuki, Kenichi Chiba, Hiroko Tanaka, Atsushi Niida, Akihiro Fujimoto, Tatsuhiko Tsunoda, Teppei Morikawa, Daichi Maeda, Haruki Kume, Sumio Sugano, Masashi Fukayama, Hiroyuki Aburatani, Masashi Sanada, Satoru Miyano, Yukio Homma & Seishi Ogawa
doi:10.1038/ng.2699
Seishi Ogawa and colleagues report an integrated genomics analysis of more than 100 clear-cell renal carcinoma samples. They analyze whole genomes or exomes, RNA sequences and DNA methylation in ~100 paired specimens and perform SNP array-based copy number analysis for 240 specimens. They identify new recurrently mutated pathways and new associations between DNA methylation, mutations, gene expression and copy number profiles.
See also: News and Views by Hakimi et al. | | | | Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia pp868 - 876
Sonja I Berndt, Christine F Skibola, Vijai Joseph, Nicola J Camp, Alexandra Nieters, Zhaoming Wang, Wendy Cozen, Alain Monnereau, Sophia S Wang, Rachel S Kelly, Qing Lan, Lauren R Teras, Nilanjan Chatterjee, Charles C Chung, Meredith Yeager, Angela R Brooks-Wilson, Patricia Hartge, Mark P Purdue, Brenda M Birmann, Bruce K Armstrong, Pierluigi Cocco, Yawei Zhang, Gianluca Severi, Anne Zeleniuch-Jacquotte, Charles Lawrence, Laurie Burdette, Jeffrey Yuenger, Amy Hutchinson, Kevin B Jacobs, Timothy G Call, Tait D Shanafelt, Anne J Novak, Neil E Kay, Mark Liebow, Alice H Wang, Karin E Smedby, Hans-Olov Adami, Mads Melbye, Bengt Glimelius, Ellen T Chang, Martha Glenn, Karen Curtin, Lisa A Cannon-Albright, Brandt Jones, W Ryan Diver, Brian K Link, George J Weiner, Lucia Conde, Paige M Bracci, Jacques Riby, Elizabeth A Holly, Martyn T Smith, Rebecca D Jackson, Lesley F Tinker, Yolanda Benavente, Nikolaus Becker, Paolo Boffetta, Paul Brennan, Lenka Foretova, Marc Maynadie, James McKay, Anthony Staines, Kari G Rabe, Sara J Achenbach, Celine M Vachon, Lynn R Goldin, Sara S Strom, Mark C Lanasa, Logan G Spector, Jose F Leis, Julie M Cunningham, J Brice Weinberg, Vicki A Morrison, Neil E Caporaso, Aaron D Norman, Martha S Linet, Anneclaire J De Roos, Lindsay M Morton, Richard K Severson, Elio Riboli, Paolo Vineis, Rudolph Kaaks, Dimitrios Trichopoulos, Giovanna Masala, Elisabete Weiderpass, María-Dolores Chirlaque, Roel C H Vermeulen, Ruth C Travis, Graham G Giles, Demetrius Albanes, Jarmo Virtamo, Stephanie Weinstein, Jacqueline Clavel, Tongzhang Zheng, Theodore R Holford, Kenneth Offit, Andrew Zelenetz, Robert J Klein, John J Spinelli, Kimberly A Bertrand, Francine Laden, Edward Giovannucci, Peter Kraft, Anne Kricker, Jenny Turner, Claire M Vajdic, Maria Grazia Ennas, Giovanni M Ferri, Lucia Miligi, Liming Liang, Joshua Sampson, Simon Crouch, Ju-Hyun Park, Kari E North, Angela Cox, John A Snowden, Josh Wright, Angel Carracedo, Carlos Lopez-Otin, Silvia Bea, Itziar Salaverria, David Martin-Garcia, Elias Campo, Joseph F Fraumeni Jr, Silvia de Sanjose, Henrik Hjalgrim, James R Cerhan, Stephen J Chanock, Nathaniel Rothman & Susan L Slager
doi:10.1038/ng.2652
Susan Slager and colleagues report a meta-analysis of genome-wide association studies for chronic lymphocytic leukemia (CLL). They identify nine loci newly associated with CLL. | | | | Oocyte differentiation is genetically dissociable from meiosis in mice pp877 - 883
Gregoriy A Dokshin, Andrew E Baltus, John J Eppig and David C Page
doi:10.1038/ng.2672
David Page and colleagues report that entry into meiosis is not required for oocyte development, which goes against previous concepts that entry into meiosis initiated oocyte differentiation and development. They show that mice lacking Stra8 fail in premeiotic replication and meiotic prophase. | | | | Massive genomic variation and strong selection in Arabidopsis thaliana lines from Sweden pp884 - 890
Quan Long, Fernando A Rabanal, Dazhe Meng, Christian D Huber, Ashley Farlow, Alexander Platzer, Qingrun Zhang, Bjarni J Vilhjálmsson, Arthur Korte, Viktoria Nizhynska, Viktor Voronin, Pamela Korte, Laura Sedman, Terezie Mandáková, Martin A Lysak, Ümit Seren, Ines Hellmann & Magnus Nordborg
doi:10.1038/ng.2678
Magnus Nordborg and colleagues report sequencing of 180 Arabidopsis thaliana lines from Sweden. They characterize patterns of genetic variation and selection and provide a population resource that will be useful for association studies. | | | | An atlas of over 90,000 conserved noncoding sequences provides insight into crucifer regulatory regions OPEN pp891 - 898
Annabelle Haudry, Adrian E Platts, Emilio Vello, Douglas R Hoen, Mickael Leclercq, Robert J Williamson, Ewa Forczek, Zoé Joly-Lopez, Joshua G Steffen, Khaled M Hazzouri, Ken Dewar, John R Stinchcombe, Daniel J Schoen, Xiaowu Wang, Jeremy Schmutz, Christopher D Town, Patrick P Edger, J Chris Pires, Karen S Schumaker, David E Jarvis, Terezie Mandáková, Martin A Lysak, Erik van den Bergh, M Eric Schranz, Paul M Harrison, Alan M Moses, Thomas E Bureau, Stephen I Wright & Mathieu Blanchette
doi:10.1038/ng.2684
Mathieu Blanchette and colleagues report whole-genome sequencing of three Brassicaceae species, Leavenworthia alabamica, Sisymbrium irio and Aethionema arabicum. They include comparative genomic analysis with 6 additional crucifier genomes, identify and characterize over 90,000 conserved noncoding sequences and provide a map of functional noncoding regions in plant genomes. | | Letters | Top | | | | Whole-genome sequence-based analysis of high-density lipoprotein cholesterol pp899 - 901
Alanna C Morrison, Arend Voorman, Andrew D Johnson, Xiaoming Liu, Jin Yu, Alexander Li, Donna Muzny, Fuli Yu, Kenneth Rice, Chengsong Zhu, Joshua Bis, Gerardo Heiss, Christopher J O'Donnell, Bruce M Psaty, L Adrienne Cupples, Richard Gibbs & Eric Boerwinkle for the Cohorts for Heart and Aging Research in Genetic Epidemiology (CHARGE) Consortium
doi:10.1038/ng.2671
Eric Boerwinkle and colleagues report whole-genome sequencing of a population-based sample of 962 individuals from three Cohorts for Heart and Aging Research in Genetic Epidemiology (CHARGE) studies. They analyze the genetic architecture of high-density lipoprotein cholesterol (HDL-C) levels and estimate that common variation contributes more to HDL-C heritability than rare variation. | | | | Meta-analysis of genome-wide association studies identifies ten loci influencing allergic sensitization pp902 - 906
Klaus Bønnelykke, Melanie C Matheson, Tune H Pers, Raquel Granell, David P Strachan, Alexessander Couto Alves, Allan Linneberg, John A Curtin, Nicole M Warrington, Marie Standl, Marjan Kerkhof, Ingileif Jonsdottir, Blazenka K Bukvic, Marika Kaakinen, Patrick Sleimann, Gudmar Thorleifsson, Unnur Thorsteinsdottir, Katharina Schramm, Svetlana Baltic, Eskil Kreiner-Møller, Angela Simpson, Beate St Pourcain, Lachlan Coin, Jennie Hui, Eugene H Walters, Carla M T Tiesler, David L Duffy, Graham Jones, Australian Asthma Genetics Consortium (AAGC), Susan M Ring, Wendy L McArdle, Loren Price, Colin F Robertson, Juha Pekkanen, Clara S Tang, Elisabeth Thiering, Grant W Montgomery, Anna-Liisa Hartikainen, Shyamali C Dharmage, Lise L Husemoen, Christian Herder, John P Kemp, Paul Elliot, Alan James, Melanie Waldenberger, Michael J Abramson, Benjamin P Fairfax, Julian C Knight, Ramneek Gupta, Philip J Thompson, Patrick Holt, Peter Sly, Joel N Hirschhorn, Mario Blekic, Stephan Weidinger, Hakon Hakonarsson, Kari Stefansson, Joachim Heinrich, Dirkje S Postma, Adnan Custovic, Craig E Pennell, Marjo-Riitta Jarvelin, Gerard H Koppelman, Nicholas Timpson, Manuel A Ferreira, Hans Bisgaard & A John Henderson for the EArly Genetics and Lifecourse Epidemiology (EAGLE) Consortium
doi:10.1038/ng.2694
Klaus Bonnelykke and colleagues report results of a genome-wide association study of allergic sensitization. They identify ten loci influencing this phenotype and provide insight into the shared genetic basis of allergic sensitization and atopic diseases. | | | | A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci pp907 - 911
David A Hinds, George McMahon, Amy K Kiefer, Chuong B Do, Nicholas Eriksson, David M Evans, Beate St Pourcain, Susan M Ring, Joanna L Mountain, Uta Francke, George Davey-Smith, Nicholas J Timpson & Joyce Y Tung
doi:10.1038/ng.2686
David Hinds and colleagues report results of a genome-wide association meta-analysis of self-reported allergy. They identify 16 shared susceptibility loci for allergic traits, including 8 loci previously associated with asthma. | | | | Genome-wide meta-analysis identifies new susceptibility loci for migraine pp912 - 917
Verneri Anttila, Bendik S Winsvold, Padhraig Gormley, Tobias Kurth, Francesco Bettella, George McMahon, Mikko Kallela, Rainer Malik, Boukje de Vries, Gisela Terwindt, Sarah E Medland, Unda Todt, Wendy L McArdle, Lydia Quaye, Markku Koiranen, M Arfan Ikram, Terho Lehtimäki, Anine H Stam, Lannie Ligthart, Juho Wedenoja, Ian Dunham, Benjamin M Neale, Priit Palta, Eija Hamalainen, Markus Schürks, Lynda M Rose, Julie E Buring, Paul M Ridker, Stacy Steinberg, Hreinn Stefansson, Finnbogi Jakobsson, Debbie A Lawlor, David M Evans, Susan M Ring, Markus Färkkilä, Ville Artto, Mari A Kaunisto, Tobias Freilinger, Jean Schoenen, Rune R Frants, Nadine Pelzer, Claudia M Weller, Ronald Zielman, Andrew C Heath, Pamela A F Madden, Grant W Montgomery, Nicholas G Martin, Guntram Borck, Hartmut Göbel, Axel Heinze, Katja Heinze-Kuhn, Frances M K Williams, Anna-Liisa Hartikainen, Anneli Pouta, Joyce van den Ende, Andre G Uitterlinden, Albert Hofman, Najaf Amin, Jouke-Jan Hottenga, Jacqueline M Vink, Kauko Heikkilä, Michael Alexander, Bertram Muller-Myhsok, Stefan Schreiber, Thomas Meitinger, Heinz Erich Wichmann, Arpo Aromaa, Johan G Eriksson, Bryan J Traynor, Daniah Trabzuni, North American Brain Expression Consortium, UK Brain Expression Consortium, Elizabeth Rossin, Kasper Lage, Suzanne B R Jacobs, J Raphael Gibbs, Ewan Birney, Jaakko Kaprio, Brenda W Penninx, Dorret I Boomsma, Cornelia van Duijn, Olli Raitakari, Marjo-Riitta Jarvelin, John-Anker Zwart, Lynn Cherkas, David P Strachan, Christian Kubisch, Michel D Ferrari, Arn M J M van den Maagdenberg, Martin Dichgans, Maija Wessman, George Davey Smith, Kari Stefansson, Mark J Daly & Dale R Nyholt, Daniel I Chasman & Aarno Palotie for the International Headache Genetics Consortium
doi:10.1038/ng.2676
Verneri Anttila and colleagues report meta-analysis of 29 genome-wide association studies for migraine. They identify five loci newly associated with migraine, three of which are associated with specific subtypes of migraine with or without aura. | | | | A genome-wide association study identifies two new cervical cancer susceptibility loci at 4q12 and 17q12 pp918 - 922
Yongyong Shi, Li Li, Zhibin Hu, Shuang Li, Shixuan Wang, Jihong Liu, Chen Wu, Lin He, Jianfeng Zhou, Zhiqiang Li, Ting Hu, Yile Chen, Yao Jia, Shaoshuai Wang, Li Wu, Xiaodong Cheng, Zhijun Yang, Ru Yang, Xiong Li, Kecheng Huang, Qinghua Zhang, Hang Zhou, Fangxu Tang, Zhilan Chen, Jian Shen, Jie Jiang, Hu Ding, Hui Xing, Shulan Zhang, Pengpeng Qu, Xiaojie Song, Zhongqiu Lin, Dongrui Deng, Ling Xi, Weiguo Lv, Xiaobing Han, Guangshi Tao, Lixing Yan, Zhedong Han, Zhuang Li, Xiaoping Miao, Shandong Pan, Yuanming Shen, Hui Wang, Dan Liu, Ee Gong, Zheng Li, Limei Zhou, Xiaomei Luan, Chuping Wang, Qian Song, Sufang Wu, Hongbin Xu, Jiawei Shen, Fulin Qiang, Gang Ma, Li Liu, Xiaojun Chen, Jibin Liu, Jiangping Wu, Yan Shen, Yang Wen, Minjie Chu, Jiang Yu, Xiaoxia Hu, Yujuan Fan, Hongying He, Yanming Jiang, Zhiying Lei, Cui Liu, Jianhua Chen, Yuan Zhang, Cunjian Yi, Shuangyun Chen, Wenjin Li, Daowen Wang, Zehua Wang, Wen Di, Keng Shen, Dongxin Lin, Hongbing Shen, Youji Feng, Xing Xie & Ding Ma
doi:10.1038/ng.2687
Ding Ma, Xing Xie, Yongyong Shi and colleagues report a genome-wide association study of cervical cancer in the Han Chinese population. They identify two new susceptibility lociat 4q12 and 17q12. | | | | Frequent mutation of the major cartilage collagen gene COL2A1 in chondrosarcoma pp923 - 926
Patrick S Tarpey, Sam Behjati, Susanna L Cooke, Peter Van Loo, David C Wedge, Nischalan Pillay, John Marshall, Sarah O'Meara, Helen Davies, Serena Nik-Zainal, David Beare, Adam Butler, John Gamble, Claire Hardy, Jonathon Hinton, Ming Ming Jia, Alagu Jayakumar, David Jones, Calli Latimer, Mark Maddison, Sancha Martin, Stuart McLaren, Andrew Menzies, Laura Mudie, Keiran Raine, Jon W Teague, Jose M C Tubio, Dina Halai, Roberto Tirabosco, Fernanda Amary, Peter J Campbell, Michael R Stratton, Adrienne M Flanagan & P Andrew Futreal
doi:10.1038/ng.2668
Andrew Futreal and colleagues identify the major cartilage collagen gene COL2A1 as a frequent target of somatic mutation in chondrosarcoma. The mutation patterns are consistent with selection for variants likely to impair normal collagen biosynthesis. | | | | Recurrent somatic alterations of FGFR1 and NTRK2 in pilocytic astrocytoma pp927 - 932
David T W Jones, Barbara Hutter, Natalie Jäger, Andrey Korshunov, Marcel Kool, Hans-Jörg Warnatz, Thomas Zichner, Sally R Lambert, Marina Ryzhova, Dong Anh Khuong Quang, Adam M Fontebasso, Adrian M Stütz, Sonja Hutter, Marc Zuckermann, Dominik Sturm, Jan Gronych, Bärbel Lasitschka, Sabine Schmidt, Huriye Şeker-Cin, Hendrik Witt, Marc Sultan, Meryem Ralser, Paul A Northcott, Volker Hovestadt, Sebastian Bender, Elke Pfaff, Sebastian Stark, Damien Faury, Jeremy Schwartzentruber, Jacek Majewski, Ursula D Weber, Marc Zapatka, Benjamin Raeder, Matthias Schlesner, Catherine L Worth, Cynthia C Bartholomae, Christof von Kalle, Charles D Imbusch, Sylwester Radomski, Chris Lawerenz, Peter van Sluis, Jan Koster, Richard Volckmann, Rogier Versteeg, Hans Lehrach, Camelia Monoranu, Beate Winkler, Andreas Unterberg, Christel Herold-Mende, Till Milde, Andreas E Kulozik, Martin Ebinger, Martin U Schuhmann, Yoon-Jae Cho, Scott L Pomeroy, Andreas von Deimling, Olaf Witt, Michael D Taylor, Stephan Wolf, Matthias A Karajannis, Charles G Eberhart, Wolfram Scheurlen, Martin Hasselblatt, Keith L Ligon, Mark W Kieran, Jan O Korbel, Marie-Laure Yaspo, Benedikt Brors, Jörg Felsberg, Guido Reifenberger, V Peter Collins, Nada Jabado, Roland Eils, Peter Lichter & Stefan M Pfister for the International Cancer Genome Consortium PedBrain Tumor Project
doi:10.1038/ng.2682
Stefan Pfister and the ICGC PedBrain Tumor Project report whole-genome sequencing of 96 pilocytic astrocytomas. They identify recurrent activating mutations in FGFR1 and PTPN11 and novel NTRK2 fusion genes.
See also: News and Views by Turcan & Chan | | | | Exome sequencing identifies recurrent somatic mutations in EIF1AX and SF3B1 in uveal melanoma with disomy 3 pp933 - 936
Marcel Martin, Lars Maßhöfer, Petra Temming, Sven Rahmann, Claudia Metz, Norbert Bornfeld, Johannes van de Nes, Ludger Klein-Hitpass, Alan G Hinnebusch, Bernhard Horsthemke, Dietmar R Lohmann & Michael Zeschnigk
doi:10.1038/ng.2674
Michael Zeschnigk and colleagues identify recurrent somatic mutations of EIF1AX and SF3B1 in uveal melanomas with disomy 3. The EIF1AX mutations specifically alter the N-terminal tail of the protein and were found exclusively in tumors lacking SF3B1 mutations. | | | | Exome sequencing identifies secondary mutations of SETBP1 and JAK3 in juvenile myelomonocytic leukemia pp937 - 941
Hirotoshi Sakaguchi, Yusuke Okuno, Hideki Muramatsu, Kenichi Yoshida, Yuichi Shiraishi, Mariko Takahashi, Ayana Kon, Masashi Sanada, Kenichi Chiba, Hiroko Tanaka, Hideki Makishima, Xinan Wang, Yinyan Xu, Sayoko Doisaki, Asahito Hama, Koji Nakanishi, Yoshiyuki Takahashi, Nao Yoshida, Jaroslaw P Maciejewski, Satoru Miyano, Seishi Ogawa & Seiji Kojima
doi:10.1038/ng.2698
Seiji Kojima and colleagues report whole-exome sequencing of 13 juvenile myelomonocytic leukemias. They identify RAS pathway mutations in 82 of the 92 total cases analyzed and mutations in SETBP1 or JAK3 in 16 cases.
See also: News and Views by Trimarchi et al. | | | | Somatic SETBP1 mutations in myeloid malignancies pp942 - 946
Hideki Makishima, Kenichi Yoshida, Nhu Nguyen, Bartlomiej Przychodzen, Masashi Sanada, Yusuke Okuno, Kwok Peng Ng, Kristbjorn O Gudmundsson, Bandana A Vishwakarma, Andres Jerez, Ines Gomez-Segui, Mariko Takahashi, Yuichi Shiraishi, Yasunobu Nagata, Kathryn Guinta, Hiraku Mori, Mikkael A Sekeres, Kenichi Chiba, Hiroko Tanaka, Hideki Muramatsu, Hirotoshi Sakaguchi, Ronald L Paquette, Michael A McDevitt, Seiji Kojima, Yogen Saunthararajah, Satoru Miyano, Lee-Yung Shih, Yang Du, Seishi Ogawa & Jaroslaw P Maciejewski
doi:10.1038/ng.2696
Jaroslaw Maciejewski and colleagues report whole-exome sequencing of 20 cases of myeloid malignancies, with follow up of SETBP1 in 727 further cases of myeloid malignancies. They identify SETBP1 mutations in 52 cases (7.2%).
See also: News and Views by Trimarchi et al. | | | | An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy pp947 - 950
Michael N Weedon, Sian Ellard, Marc J Prindle, Richard Caswell, Hana Lango Allen, Richard Oram, Koumudi Godbole, Chittaranjan S Yajnik, Paolo Sbraccia, Giuseppe Novelli, Peter Turnpenny, Emma McCann, Kim Jee Goh, Yukai Wang, Jonathan Fulford, Laura J McCulloch, David B Savage, Stephen O'Rahilly, Katarina Kos, Lawrence A Loeb, Robert K Semple & Andrew T Hattersley
doi:10.1038/ng.2670
Andrew Hattersley and colleagues show that an in-frame deletion in POLD1 affecting the polymerase active site causes a multisystem disorder characterized by lipodystrophy, deafness and mandibular hypoplasia. This recurrent mutation abolishes DNA polymerase activity but only mildly impairs 3'- to 5'-exonuclease activity. | | | | ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3 pp951 - 956
Sylvia Hoff, Jan Halbritter, Daniel Epting, Valeska Frank, Thanh-Minh T Nguyen, Jeroen van Reeuwijk, Christopher Boehlke, Christoph Schell, Takayuki Yasunaga, Martin Helmstädter, Miriam Mergen, Emilie Filhol, Karsten Boldt, Nicola Horn, Marius Ueffing, Edgar A Otto, Tobias Eisenberger, Mariet W Elting, Joanna A E van Wijk, Detlef Bockenhauer, Neil J Sebire, Søren Rittig, Mogens Vyberg, Troels Ring, Martin Pohl, Lars Pape, Thomas J Neuhaus, Neveen A Soliman Elshakhs, Sarah J Koon, Peter C Harris, Florian Grahammer, Tobias B Huber, E Wolfgang Kuehn, Albrecht Kramer-Zucker, Hanno J Bolz, Ronald Roepman, Sophie Saunier, Gerd Walz, Friedhelm Hildebrandt, Carsten Bergmann & Soeren S Lienkamp
doi:10.1038/ng.2681
Soeren Lienkamp, Carsten Bergmann, Friedhelm Hildebrandt and colleagues show that mutations in ANKS6 cause nephronophthisis, a recessive cystic kidney disease. They further identify ANKS6 as a component of a protein module that includes INVS (NPHP2), NPHP3 and NEK8 (NPHP9). | | | | A haplotype map of genomic variations and genome-wide association studies of agronomic traits in foxtail millet (Setaria italica) pp957 - 961
Guanqing Jia, Xuehui Huang, Hui Zhi, Yan Zhao, Qiang Zhao, Wenjun Li, Yang Chai, Lifang Yang, Kunyan Liu, Hengyun Lu, Chuanrang Zhu, Yiqi Lu, Congcong Zhou, Danlin Fan, Qijun Weng, Yunli Guo, Tao Huang, Lei Zhang, Tingting Lu, Qi Feng, Hangfei Hao, Hongkuan Liu, Ping Lu, Ning Zhang, Yuhui Li, Erhu Guo, Shujun Wang, Suying Wang, Jinrong Liu, Wenfei Zhang, Guoqiu Chen, Baojin Zhang, Wei Li, Yongfang Wang, Haiquan Li, Baohua Zhao, Jiayang Li, Xianmin Diao & Bin Han
doi:10.1038/ng.2673
Bin Han and colleagues report de novo assembly of the genome of a wild progenitor (Setaria viridis) of foxtail millet and low-pass resequencing of 916 diverse foxtail millet varieties. They identify 0.8 million common SNPs, construct a haplotype map of foxtail millet and perform genome-wide association studies on 47 agronomic traits. | | Corrigenda | Top | | | | Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly p962
Karine Poirier, Nicolas Lebrun, Loic Broix, Guoling Tian, Yoann Saillour, Cécile Boscheron, Elena Parrini, Stephanie Valence, Benjamin Saint Pierre, Madison Oger, Didier Lacombe, David Geneviève, Elena Fontana, Franscesca Darra, Claude Cances, Magalie Barth, Dominique Bonneau, Bernardo Dalla Bernadina, Sylvie N'Guyen, Cyril Gitiaux, Philippe Parent, Vincent des Portes, Jean Michel Pedespan, Victoire Legrez, Laetitia Castelnau-Ptakine, Patrick Nitschke, Thierry Hieu, Cecile Masson, Diana Zelenika, Annie Andrieux, Fiona Francis, Renzo Guerrini, Nicholas J Cowan, Nadia Bahi-Buisson & Jamel Chelly
doi:10.1038/ng0813-962b | | | | A genome-wide association study identifies susceptibility loci for Wilms tumor p962
Clare Turnbull, Elizabeth R Perdeaux, David Pernet, Arlene Naranjo, Anthony Renwick, Sheila Seal, Rosa Maria Munoz-Xicola, Sandra Hanks, Ingrid Slade, Anna Zachariou, Margaret Warren-Perry, Elise Ruark, Mary Gerrard, Juliet Hale, Martin Hewitt, Janice Kohler, Sheila Lane, Gill Levitt, Mabrook Madi, Bruce Morland, Veronica Neefjes, James Nicholson, Susan Picton, Barry Pizer, Milind Ronghe, Michael Stevens, Heidi Traunecker, Charles A Stiller, Kathy Pritchard-Jones, Jeffrey Dome, Paul Grundy & Nazneen Rahman
doi:10.1038/ng0813-962a | | | Top | |  | | Advertisement | | LEARNING IN THE DIGITAL AGE
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