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Find out how to become a scientific Superhero! |  | | | |  | TABLE OF CONTENTS
| November 2013 Volume 45, Issue 11 |  | | |  |  Editorial
Correspondence
News and Views
Research Highlights
Articles
Letters
Corrigenda | | | Advertisement | | | | 
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Please visit: www.eppendorf.com/workflows |  | | | | | | Editorial |  Top | |  | | Taking pan-cancer analysis global p1263
doi:10.1038/ng.2825
Although federated cooperation is politically desirable, uniform data quality and standards are essential and should not be reinvented from scratch. The International Cancer Genome Consortium (ICGC) will do well to start with the data standards of The Cancer Genome Atlas (TCGA) and the Pediatric Cancer Genome Consortium if it is to succeed in genomic analysis across cancer types. | | Correspondence | Top | | | | On the robustness of germ cell migration and microRNA-mediated regulation of chemokine signaling pp1264 - 1265
Mehdi Goudarzi, Ina Strate, Azadeh Paksa, Anne-Karine Lagendijk, Jeroen Bakkers & Erez Raz
doi:10.1038/ng.2793 | | | | Reply to: "On the robustness of germ cell migration and microRNA-mediated regulation of chemokine signaling" pp1266 - 1267
Alison A Staton, Holger Knaut & Antonio J Giraldez
doi:10.1038/ng.2812 | | News and Views | Top | | | | Linking the SWI/SNF complex to prostate cancer pp1268 - 1269
Ryan S Lee & Charles W M Roberts
doi:10.1038/ng.2805
Genes encoding subunits of the SWI/SNF chromatin-remodeling complex constitute, collectively, one of the most frequently mutated targets in cancer. Although mutations in SWI/SNF genes are uncommon in prostate cancer, a new study shows that SChLAP1, a long noncoding RNA frequently expressed in aggressive prostate tumors, drives cancer by directly disrupting SNF5, a core subunit of the SWI/SNF complex.
See also: Letter by Prensner et al. | | | | Mining the epigenetic landscape in ALL pp1269 - 1270
Lindsay M LaFave & Ross L Levine
doi:10.1038/ng.2808
The significance of epigenomic aberrations in cancer development has been underscored by the discovery of mutations in key chromatin modifiers, most notably in hematological malignancies. A new study of pediatric acute lymphoblastic leukemia (ALL) demonstrates the usefulness of mapping global epigenetic signatures and applying these data in a framework to identify and characterize underlying somatic genetic alterations in human cancers.
See also: Letter by Jaffe et al. | | | | No pain, more gain pp1271 - 1272
James J Cox & John N Wood
doi:10.1038/ng.2810
A new study shows that a specific mutation in SCN11A, which encodes the Nav1.9 voltage-gated sodium channel, underlies a human disorder characterized by insensitivity to pain. This finding provides fresh insights into human pain perception and suggests a new avenue for the development of analgesic drugs.
See also: Letter by Leipold et al. | | | | |
| | Research Highlights | Top | | | | Clinical diagnostic sequencing | FunSeq for cancer genomics | ADAM10 and Alzheimer's disease | Ras pathway activation in breast cancer | Genetics of immune cell levels | | Advertisement | | | Leukemia Focused The story of Leukemia research is being re-written?one droplet at a time. See how droplet digital PCR gives scientists the power to detect what was previously undetectable. Watch Video > |  | | | | | | Articles | Top | | | | Discovery and refinement of loci associated with lipid levels pp1274 - 1283
Global Lipids Genetics Consortium
doi:10.1038/ng.2797
Cristen Willer and colleagues report genome-wide association analyses for blood lipid levels in 188,578 individuals. They identify 62 loci newly associated with blood lipid levels, refine the association signals at 12 loci and examine associations with cardiovascular and metabolic traits. | | | | Variants at multiple loci implicated in both innate and adaptive immune responses are associated with Sjögren's syndrome pp1284 - 1292
Christopher J Lessard, He Li, Indra Adrianto, John A Ice, Astrid Rasmussen, Kiely M Grundahl, Jennifer A Kelly, Mikhail G Dozmorov, Corinne Miceli-Richard, Simon Bowman, Sue Lester, Per Eriksson, Maija-Leena Eloranta, Johan G Brun, Lasse G Gøransson, Erna Harboe, Joel M Guthridge, Kenneth M Kaufman, Marika Kvarnström, Helmi Jazebi, Deborah S Cunninghame Graham, Martha E Grandits, Abu N M Nazmul-Hossain, Ketan Patel, Adam J Adler, Jacen S Maier-Moore, A Darise Farris, Michael T Brennan, James A Lessard, James Chodosh, Rajaram Gopalakrishnan, Kimberly S Hefner, Glen D Houston, Andrew J W Huang, Pamela J Hughes, David M Lewis, Lida Radfar, Michael D Rohrer, Donald U Stone, Jonathan D Wren, Timothy J Vyse, Patrick M Gaffney, Judith A James, Roald Omdal, Marie Wahren-Herlenius, Gabor G Illei, Torsten Witte, Roland Jonsson, Maureen Rischmueller, Lars Rönnblom, Gunnel Nordmark, Wan-Fai Ng, for UK Primary Sjögren's Syndrome Registry, Xavier Mariette, Juan-Manuel Anaya, Nelson L Rhodus, Barbara M Segal, R Hal Scofield, Courtney G Montgomery, John B Harley & Kathy L Sivils
doi:10.1038/ng.2792
Kathy Sivils and colleagues report results of a large-scale association study of Sjögren's syndrome, a common autoimmune disease. They confirm strong associations with the HLA region and establish genome-wide significant associations at several non-HLA loci implicated in both innate and adaptive immunity. | | | | The landscape of somatic mutations in Down syndrome-related myeloid disorders pp1293 - 1299
Kenichi Yoshida, Tsutomu Toki, Yusuke Okuno, Rika Kanezaki, Yuichi Shiraishi, Aiko Sato-Otsubo, Masashi Sanada, Myoung-ja Park, Kiminori Terui, Hiromichi Suzuki, Ayana Kon, Yasunobu Nagata, Yusuke Sato, RuNan Wang, Norio Shiba, Kenichi Chiba, Hiroko Tanaka, Asahito Hama, Hideki Muramatsu, Daisuke Hasegawa, Kazuhiro Nakamura, Hirokazu Kanegane, Keiko Tsukamoto, Souichi Adachi, Kiyoshi Kawakami, Koji Kato, Ryosei Nishimura, Shai Izraeli, Yasuhide Hayashi, Satoru Miyano, Seiji Kojima, Etsuro Ito & Seishi Ogawa
doi:10.1038/ng.2759
Seishi Ogawa and colleagues report the landscape of somatic mutations in Down syndrome-related myeloid disorders. They identify recurrent mutations in multiple cohesin components, CTCF and epigenetic regulators in Down syndrome-related acute megakaryoblastic leukemia. | | | | Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development pp1300 - 1308
Silvia Cappello, Mary J Gray, Caroline Badouel, Simona Lange, Melanie Einsiedler, Myriam Srour, David Chitayat, Fadi F Hamdan, Zandra A Jenkins, Tim Morgan, Nadia Preitner, Tami Uster, Jackie Thomas, Patrick Shannon, Victoria Morrison, Nataliya Di Donato, Lionel Van Maldergem, Teresa Neuhann, Ruth Newbury-Ecob, Marielle Swinkells, Paulien Terhal, Louise C Wilson, Petra J G Zwijnenburg, Andrew J Sutherland-Smith, Michael A Black, David Markie, Jacques L Michaud, Michael A Simpson, Sahar Mansour, Helen McNeill, Magdalena Götz & Stephen P Robertson
doi:10.1038/ng.2765
Magdalena Gotz, Stephen Robertson and colleagues show that biallelic mutations in DCHS1 and FAT4 cause a multisystem disorder that includes periventricular neuronal heterotopia. They further show that reducing expression of Dchs1 and Fat4 in mouse embryonic neuroepithelium causes an increase in progenitor cell numbers and reduced neuronal differentiation, resulting in heterotopic accumulation of cells below the neuronal layers in the neocortex. | | | | BMP signaling controls muscle mass pp1309 - 1318
Roberta Sartori, Elija Schirwis, Bert Blaauw, Sergia Bortolanza, Jinghui Zhao, Elena Enzo, Amalia Stantzou, Etienne Mouisel, Luana Toniolo, Arnaud Ferry, Sigmar Stricker, Alfred L Goldberg, Sirio Dupont, Stefano Piccolo, Helge Amthor & Marco Sandri
doi:10.1038/ng.2772
Marco Sandri, Helge Amthor, Stefano Piccolo and colleagues show that BMP signaling is a key positive regulator of muscle hypertrophy. They further show that inhibiting BMP signaling causes muscle atrophy, abolishes the hypertrophic phenotype of myostatin knockout mice and exacerbates the effects of denervation and fasting. | | | | Replicative mechanisms for CNV formation are error prone pp1319 - 1326
Claudia M B Carvalho, Davut Pehlivan, Melissa B Ramocki, Ping Fang, Benjamin Alleva, Luis M Franco, John W Belmont, P J Hastings & James R Lupski
doi:10.1038/ng.2768
James Lupski and colleagues report a high-resolution analysis of 67 breakpoint junctions in 31 unrelated individuals with MECP2 duplication syndrome. They find that ~52% of genomic rearrangements in these individuals represent complex events in which the sequences flanking the breakpoints acquire additional changes, including small insertions, deletions and point mutations, likely resulting from error-prone DNA polymerase activity. | | | | Arabidopsis meiotic crossover hot spots overlap with H2A.Z nucleosomes at gene promoters pp1327 - 1336
Kyuha Choi, Xiaohui Zhao, Krystyna A Kelly, Oliver Venn, James D Higgins, Nataliya E Yelina, Thomas J Hardcastle, Piotr A Ziolkowski, Gregory P Copenhaver, F Chris H Franklin, Gil McVean & Ian R Henderson
doi:10.1038/ng.2766
Ian Henderson and colleagues report fine-scale mapping and characterization of recombination rates in Arabidopsis thaliana. They find an enrichment of recombination hot spots overlapping transcription start and termination sites, as well as that hot spot-associated promoter regions show elevated levels of chromatin marks, including high H2A.Z, high H3K4me3 and low nucleosome density. | | | | Dampening of expression oscillations by synchronous regulation of a microRNA and its target pp1337 - 1344
Dong hyun Kim, Dominic Grün & Alexander van Oudenaarden
doi:10.1038/ng.2763
Alexander van Oudenaarden and colleagues analyze the temporal dynamics of the Caenorhabditis elegans transcriptome, reporting that ~2,000 genes show periodic expression oscillations in synchrony with progression through larval stages. They characterize the expression dynamics of the microRNA lin-4 and its target lin-14 and suggest that a microRNA-mediated feed-forward circuit is required for efficient dampening of expression oscillations to maintain the temporal gradient of the microRNA target. | | Letters | Top | | | | Common variants associated with plasma triglycerides and risk for coronary artery disease pp1345 - 1352
Ron Do, Cristen J Willer, Ellen M Schmidt, Sebanti Sengupta, Chi Gao, Gina M Peloso, Stefan Gustafsson, Stavroula Kanoni, Andrea Ganna, Jin Chen, Martin L Buchkovich, Samia Mora, Jacques S Beckmann, Jennifer L Bragg-Gresham, Hsing-Yi Chang, Ayşe Demirkan, Heleen M Den Hertog, Louise A Donnelly, Georg B Ehret, Tõnu Esko, Mary F Feitosa, Teresa Ferreira, Krista Fischer, Pierre Fontanillas, Ross M Fraser, Daniel F Freitag, Deepti Gurdasani, Kauko Heikkilä, Elina Hyppönen, Aaron Isaacs, Anne U Jackson, Åsa Johansson, Toby Johnson, Marika Kaakinen, Johannes Kettunen, Marcus E Kleber, Xiaohui Li, Jian'an Luan, Leo-Pekka Lyytikäinen, Patrik K E Magnusson, Massimo Mangino, Evelin Mihailov, May E Montasser, Martina Müller-Nurasyid, Ilja M Nolte, Jeffrey R O'Connell, Cameron D Palmer, Markus Perola, Ann-Kristin Petersen, Serena Sanna, Richa Saxena, Susan K Service, Sonia Shah, Dmitry Shungin, Carlo Sidore, Ci Song, Rona J Strawbridge, Ida Surakka, Toshiko Tanaka, Tanya M Teslovich, Gudmar Thorleifsson, Evita G Van den Herik, Benjamin F Voight, Kelly A Volcik, Lindsay L Waite, Andrew Wong, Ying Wu, Weihua Zhang, Devin Absher, Gershim Asiki, Inês Barroso, Latonya F Been, Jennifer L Bolton, Lori L Bonnycastle, Paolo Brambilla, Mary S Burnett, Giancarlo Cesana, Maria Dimitriou, Alex S F Doney, Angela Döring, Paul Elliott, Stephen E Epstein, Gudmundur Ingi Eyjolfsson, Bruna Gigante, Mark O Goodarzi, Harald Grallert, Martha L Gravito, Christopher J Groves, Göran Hallmans, Anna-Liisa Hartikainen, Caroline Hayward, Dena Hernandez, Andrew A Hicks, Hilma Holm, Yi-Jen Hung, Thomas Illig, Michelle R Jones, Pontiano Kaleebu, John J P Kastelein, Kay-Tee Khaw, Eric Kim, Norman Klopp, Pirjo Komulainen, Meena Kumari, Claudia Langenberg, Terho Lehtimäki, Shih-Yi Lin, Jaana Lindström, Ruth J F Loos, François Mach, Wendy L McArdle, Christa Meisinger, Braxton D Mitchell, Gabrielle Müller, Ramaiah Nagaraja, Narisu Narisu, Tuomo V M Nieminen, Rebecca N Nsubuga, Isleifur Olafsson, Ken K Ong, Aarno Palotie, Theodore Papamarkou, Cristina Pomilla, Anneli Pouta, Daniel J Rader, Muredach P Reilly, Paul M Ridker, Fernando Rivadeneira, Igor Rudan, Aimo Ruokonen, Nilesh Samani, Hubert Scharnagl, Janet Seeley, Kaisa Silander, Alena Stančáková, Kathleen Stirrups, Amy J Swift, Laurence Tiret, Andre G Uitterlinden, L Joost van Pelt, Sailaja Vedantam, Nicholas Wainwright, Cisca Wijmenga, Sarah H Wild, Gonneke Willemsen, Tom Wilsgaard, James F Wilson, Elizabeth H Young, Jing Hua Zhao, Linda S Adair, Dominique Arveiler, Themistocles L Assimes, Stefania Bandinelli, Franklyn Bennett, Murielle Bochud, Bernhard O Boehm, Dorret I Boomsma, Ingrid B Borecki, Stefan R Bornstein, Pascal Bovet, Michel Burnier, Harry Campbell, Aravinda Chakravarti, John C Chambers, Yii-Der Ida Chen, Francis S Collins, Richard S Cooper, John Danesh, George Dedoussis, Ulf de Faire, Alan B Feranil, Jean Ferrières, Luigi Ferrucci, Nelson B Freimer, Christian Gieger, Leif C Groop, Vilmundur Gudnason, Ulf Gyllensten, Anders Hamsten, Tamara B Harris, Aroon Hingorani, Joel N Hirschhorn, Albert Hofman, G Kees Hovingh, Chao Agnes Hsiung, Steve E Humphries, Steven C Hunt, Kristian Hveem, Carlos Iribarren, Marjo-Riitta Järvelin, Antti Jula, Mika Kähönen, Jaakko Kaprio, Antero Kesäniemi, Mika Kivimaki, Jaspal S Kooner, Peter J Koudstaal, Ronald M Krauss, Diana Kuh, Johanna Kuusisto, Kirsten O Kyvik, Markku Laakso, Timo A Lakka, Lars Lind, Cecilia M Lindgren, Nicholas G Martin, Winfried März, Mark I McCarthy, Colin A McKenzie, Pierre Meneton, Andres Metspalu, Leena Moilanen, Andrew D Morris, Patricia B Munroe, Inger Njølstad, Nancy L Pedersen, Chris Power, Peter P Pramstaller, Jackie F Price, Bruce M Psaty, Thomas Quertermous, Rainer Rauramaa, Danish Saleheen, Veikko Salomaa, Dharambir K Sanghera, Jouko Saramies, Peter E H Schwarz, Wayne H-H Sheu, Alan R Shuldiner, Agneta Siegbahn, Tim D Spector, Kari Stefansson, David P Strachan, Bamidele O Tayo, Elena Tremoli, Jaakko Tuomilehto, Matti Uusitupa, Cornelia M van Duijn, Peter Vollenweider, Lars Wallentin, Nicholas J Wareham, John B Whitfield, Bruce H R Wolffenbuttel, David Altshuler, Jose M Ordovas, Eric Boerwinkle, Colin N A Palmer, Unnur Thorsteinsdottir, Daniel I Chasman, Jerome I Rotter, Paul W Franks, Samuli Ripatti, L Adrienne Cupples, Manjinder S Sandhu, Stephen S Rich, Michael Boehnke, Panos Deloukas, Karen L Mohlke, Erik Ingelsson, Goncalo R Abecasis, Mark J Daly, Benjamin M Neale & Sekar Kathiresan
doi:10.1038/ng.2795
Sekar Kathiresan and colleagues examine 185 common variants using a modified mendelian randomization approach and provide evidence supporting a causal role of triglyceride-rich lipoproteins in the development of coronary artery disease. | | | | Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis pp1353 - 1360
International Multiple Sclerosis Genetics Consortium (IMSGC)
doi:10.1038/ng.2770
The International Multiple Sclerosis Genetics Consortium reports the discovery of 48 new susceptibility variants for multiple sclerosis through targeted follow-up of immune-related loci. They also report fine mapping of association signals at established susceptibility loci and provide insights into the immune system processes underlying this disease. | | | | A genome-wide association study in Han Chinese identifies a susceptibility locus for primary Sjogren's syndrome at 7q11.23 pp1361 - 1365
Yongzhe Li, Kunlin Zhang, Hua Chen, Fei Sun, Juanjuan Xu, Ziyan Wu, Ping Li, Liuyan Zhang, Yang Du, Haixia Luan, Xi Li, Lijun Wu, Hongbin Li, Huaxiang Wu, Xiangpei Li, Xiaomei Li, Xiao Zhang, Lu Gong, Lie Dai, Lingyun Sun, Xiaoxia Zuo, Jianhua Xu, Huiping Gong, Zhijun Li, Shengquan Tong, Min Wu, Xiaofeng Li, Weiguo Xiao, Guochun Wang, Ping Zhu, Min Shen, Shengyun Liu, Dongbao Zhao, Wei Liu, Yi Wang, Cibo Huang, Quan Jiang, Guijian Liu, Bin Liu, Shaoxian Hu, Wen Zhang, Zhuoli Zhang, Xin You, Mengtao Li, Weixin Hao, Cheng Zhao, Xiaomei Leng, Liqi Bi, Yongfu Wang, Fengxiao Zhang, Qun Shi, Wencheng Qi, Xuewu Zhang, Yuan Jia, Jinmei Su, Qin Li, Yong Hou, Qingjun Wu, Dong Xu, Wenjie Zheng, Miaojia Zhang, Qian Wang, Yunyun Fei, Xuan Zhang, Jing Li, Ying Jiang, Xinping Tian, Lidan Zhao, Li Wang, Bin Zhou, Yang Li, Yan Zhao, Xiaofeng Zeng, Jurg Ott, Jing Wang & Fengchun Zhang
doi:10.1038/ng.2779
Jing Wang, Fengchun Zhang and colleagues report the results of a genome-wide association study of primary Sjögren's syndrome, a common autoimmune disease. They confirm associations in the STAT4, TNFAIP3 and HLA regions and identify a new susceptibility locus in the GTF2I region at 7q11.23. | | | | Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration pp1366 - 1370
Johanna M Seddon, Yi Yu, Elizabeth C Miller, Robyn Reynolds, Perciliz L Tan, Sivakumar Gowrisankar, Jacqueline I Goldstein, Michael Triebwasser, Holly E Anderson, Jennyfer Zerbib, David Kavanagh, Eric Souied, Nicholas Katsanis, Mark J Daly, John P Atkinson & Soumya Raychaudhuri
doi:10.1038/ng.2741
Johanna Seddon, Soumya Raychaudhuri and colleagues report the identification of rare variants in C3, CFI and C9 associated with risk of advanced age-related macular degeneration. | | | | A rare nonsynonymous sequence variant in C3 is associated with high risk of age-related macular degeneration pp1371 - 1374
Hannes Helgason, Patrick Sulem, Maheswara R Duvvari, Hongrong Luo, Gudmar Thorleifsson, Hreinn Stefansson, Ingileif Jonsdottir, Gisli Masson, Daniel F Gudbjartsson, G Bragi Walters, Olafur Th Magnusson, Augustine Kong, Thorunn Rafnar, Lambertus A Kiemeney, Frederieke E Schoenmaker-Koller, Ling Zhao, Camiel J F Boon, Yaojun Song, Sascha Fauser, Michelle Pei, Tina Ristau, Shirrina Patel, Sandra Liakopoulos, Johannes P H van de Ven, Carel B Hoyng, Henry Ferreyra, Yaou Duan, Paul S Bernstein, Asbjorg Geirsdottir, Gudleif Helgadottir, Einar Stefansson, Anneke I den Hollander, Kang Zhang, Fridbert Jonasson, Haraldur Sigurdsson, Unnur Thorsteinsdottir & Kari Stefansson
doi:10.1038/ng.2740
Patrick Sulem, Kari Stefansson and colleagues report the identification of a rare nonsynonymous variant in the C3 gene, encoding complement factor 3, that is associated with age-related macular degeneration. | | | | Identification of a rare coding variant in complement 3 associated with age-related macular degeneration pp1375 - 1379
Xiaowei Zhan, David E Larson, Chaolong Wang, Daniel C Koboldt, Yuri V Sergeev, Robert S Fulton, Lucinda L Fulton, Catrina C Fronick, Kari E Branham, Jennifer Bragg-Gresham, Goo Jun, Youna Hu, Hyun Min Kang, Dajiang Liu, Mohammad Othman, Matthew Brooks, Rinki Ratnapriya, Alexis Boleda, Felix Grassmann, Claudia von Strachwitz, Lana M Olson, Gabriëlle H S Buitendijk, Albert Hofman, Cornelia M van Duijn, Valentina Cipriani, Anthony T Moore, Humma Shahid, Yingda Jiang, Yvette P Conley, Denise J Morgan, Ivana K Kim, Matthew P Johnson, Stuart Cantsilieris, Andrea J Richardson, Robyn H Guymer, Hongrong Luo, Hong Ouyang, Christoph Licht, Fred G Pluthero, Mindy M Zhang, Kang Zhang, Paul N Baird, John Blangero, Michael L Klein, Lindsay A Farrer, Margaret M DeAngelis, Daniel E Weeks, Michael B Gorin, John R W Yates, Caroline C W Klaver, Margaret A Pericak-Vance, Jonathan L Haines, Bernhard H F Weber, Richard K Wilson, John R Heckenlively, Emily Y Chew, Dwight Stambolian, Elaine R Mardis, Anand Swaroop & Goncalo R Abecasis
doi:10.1038/ng.2758
Goncalo Abecasis and colleagues report identification of a rare coding variant in the complement 3 gene that is associated with age-related macular degeneration. | | | | Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes pp1380 - 1385
Jason Flannick, Nicola L Beer, Alexander G Bick, Vineeta Agarwala, Janne Molnes, Namrata Gupta, Noël P Burtt, Jose C Florez, James B Meigs, Herman Taylor, Valeriya Lyssenko, Henrik Irgens, Ervin Fox, Frank Burslem, Stefan Johansson, M Julia Brosnan, Jeff K Trimmer, Christopher Newton-Cheh, Tiinamaija Tuomi, Anders Molven, James G Wilson, Christopher J O'Donnell, Sekar Kathiresan, Joel N Hirschhorn, Pål R Njølstad, Tim Rolph, J G Seidman, Stacey Gabriel, David R Cox, Christine E Seidman, Leif Groop & David Altshuler
doi:10.1038/ng.2794
David Altshuler and colleagues sequenced seven genes for maturity-onset diabetes of the young (MODY), a dominant Mendelian disorder, in 4,003 individuals drawn from three population-based cohorts. They find ~2% of individuals unselected for phenotype carry low frequency variants in one of these MODY genes, predicted as likely to be pathogenic; however most of these individuals remain asymptomatic through middle age. | | | | Global chromatin profiling reveals NSD2 mutations in pediatric acute lymphoblastic leukemia pp1386 - 1391
Jacob D Jaffe, Yan Wang, Ho Man Chan, Jinghui Zhang, Robert Huether, Gregory V Kryukov, Hyo-eun C Bhang, Jordan E Taylor, Min Hu, Nathan P Englund, Feng Yan, Zhaofu Wang, E Robert McDonald III, Lei Wei, Jing Ma, John Easton, Zhengtian Yu, Rosalie deBeaumount, Veronica Gibaja, Kavitha Venkatesan, Robert Schlegel, William R Sellers, Nicholas Keen, Jun Liu, Giordano Caponigro, Jordi Barretina, Vesselina G Cooke, Charles Mullighan, Steven A Carr, James R Downing, Levi A Garraway & Frank Stegmeier
doi:10.1038/ng.2777
Frank Stegmeier, Levi Garraway and colleagues apply a targeted mass spectrometry approach that measures level of histone modifications and identify a recurrent p.E1099K variant in NSD2 in acute lymphoblastic leukemia. When ectopically expressed in a cancer cell line, this variant promotes transformation.
See also: News and Views by LaFave & Levine | | | | The long noncoding RNA SChLAP1 promotes aggressive prostate cancer and antagonizes the SWI/SNF complex pp1392 - 1398
John R Prensner, Matthew K Iyer, Anirban Sahu, Irfan A Asangani, Qi Cao, Lalit Patel, Ismael A Vergara, Elai Davicioni, Nicholas Erho, Mercedeh Ghadessi, Robert B Jenkins, Timothy J Triche, Rohit Malik, Rachel Bedenis, Natalie McGregor, Teng Ma, Wei Chen, Sumin Han, Xiaojun Jing, Xuhong Cao, Xiaoju Wang, Benjamin Chandler, Wei Yan, Javed Siddiqui, Lakshmi P Kunju, Saravana M Dhanasekaran, Kenneth J Pienta, Felix Y Feng & Arul M Chinnaiyan
doi:10.1038/ng.2771
Arul Chinnaiyan and colleagues report that the long noncoding RNA SChLAP1 is overexpressed in a subset of prostate cancers and predicts poor outcome. Mechanistically, they show that SChLAP1 promotes invasiveness and metastasis and antagonizes the functions of the SWI/SNF chromatin-remodeling complex.
See also: News and Views by Lee & Roberts | | | | A de novo gain-of-function mutation in SCN11A causes loss of pain perception pp1399 - 1404
Enrico Leipold, Lutz Liebmann, G Christoph Korenke, Theresa Heinrich, Sebastian Gießelmann, Jonathan Baets, Matthias Ebbinghaus, R Oliver Goral, Tommy Stödberg, J Christopher Hennings, Markus Bergmann, Janine Altmüller, Holger Thiele, Andrea Wetzel, Peter Nürnberg, Vincent Timmerman, Peter De Jonghe, Robert Blum, Hans-Georg Schaible, Joachim Weis, Stefan H Heinemann, Christian A Hübner & Ingo Kurth
doi:10.1038/ng.2767
Ingo Kurth and colleagues show that a specific de novo missense mutation in SCN11A results in an inability to experience pain. They further show that mutant channels display higher activity at resting voltages, causing sustained depolarization of pain receptors, impaired generation of action potentials and aberrant synaptic transmission.
See also: News and Views by Cox & Wood | | | | Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism pp1405 - 1408
Christian P Schaaf, Manuel L Gonzalez-Garay, Fan Xia, Lorraine Potocki, Karen W Gripp, Baili Zhang, Brock A Peters, Mark A McElwain, Radoje Drmanac, Arthur L Beaudet, C Thomas Caskey & Yaping Yang
doi:10.1038/ng.2776
Christian Schaaf, Manuel Gonzalez-Garay and colleagues report the identification of four individuals with truncating mutations on the paternal allele of MAGEL2, a gene within the imprinted domain linked to Prader-Willi syndrome (PWS). The four individuals have PWS or PWS-related phenotypes, and all have autism. | | Corrigenda | Top | | | | Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death p1409
Connie R Bezzina, Julien Barc, Yuka Mizusawa, Carol Ann Remme, Jean-Baptiste Gourraud, Floriane Simonet, Arie O Verkerk, Peter J Schwartz, Lia Crotti, Federica Dagradi, Pascale Guicheney, Véronique Fressart, Antoine Leenhardt, Charles Antzelevitch, Susan Bartkowiak, Eric Schulze-Bahr, Sven Zumhagen, Elijah R Behr, Rachel Bastiaenen, Jacob Tfelt-Hansen, Morten Salling Olesen, Stefan Kääb, Britt M Beckmann, Peter Weeke, Hiroshi Watanabe, Naoto Endo, Tohru Minamino, Minoru Horie, Seiko Ohno, Kanae Hasegawa, Naomasa Makita, Akihiko Nogami, Wataru Shimizu, Takeshi Aiba, Philippe Froguel, Beverley Balkau, Olivier Lantieri, Margherita Torchio, Cornelia Wiese, David Weber, Rianne Wolswinkel, Ruben Coronel, Bas J Boukens, Stéphane Bézieau, Eric Charpentier, Stéphanie Chatel, Aurore Despres, Françoise Gros, Florence Kyndt, Simon Lecointe, Pierre Lindenbaum, Vincent Portero, Jade Violleau, Manfred Gessler, Hanno L Tan, Dan M Roden, Vincent M Christoffels, Hervé Le Marec, Arthur A Wilde, Vincent Probst, Jean-Jacques Schott, Christian Dina & Richard Redon
doi:10.1038/ng1113-1409b | | | | Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis p1409
Tasha E Fingerlin, Elissa Murphy, Weiming Zhang, Anna L Peljto, Kevin K Brown, Mark P Steele, James E Loyd, Gregory P Cosgrove, David Lynch, Steve Groshong, Harold R Collard, Paul J Wolters, Williamson Z Bradford, Karl Kossen, Scott D Seiwert, Roland M du Bois, Christine Kim Garcia, Megan S Devine, Gunnar Gudmundsson, Helgi J Isaksson, Naftali Kaminski, Yingze Zhang, Kevin F Gibson, Lisa H Lancaster, Joy D Cogan, Wendi R Mason, Toby M Maher, Philip L Molyneaux, Athol U Wells, Miriam F Moffatt, Moises Selman, Annie Pardo, Dong Soon Kim, James D Crapo, Barry J Make, Elizabeth A Regan, Dinesha S Walek, Jerry J Daniel, Yoichiro Kamatani, Diana Zelenika, Keith Smith, David McKean, Brent S Pedersen, Janet Talbert, Raven N Kidd, Cheryl R Markin, Kenneth B Beckman, Mark Lathrop, Marvin I Schwarz & David A Schwartz
doi:10.1038/ng1113-1409a | | | Top | |  | | Advertisement | | Nature Collections
TCGA pan-cancer analysis
The Cancer Genome Atlas Pan-cancer initiative examines the similarities and differences among the genomic and cellular alterations found in the first dozen tumor types to be profiled by TCGA. This first look across cancer offers new tools in genomics and bioinformatics and the prospect of repurposing targeted therapies directed by the molecular pathology of the tumors in addition to their clinical classification.
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