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Adams, John ; Adler, Clemens ; Ahammed, Zubayer ; Allgower, Chris ; Amonett, John ; Anderson, Bryon D. ; Anderson, Mike ; Arkhipkin, Dmitry A. ; Averichev, Georgy S. ; Balewski, Jan ; Barannikova, Olga ; Barnby, Lee Stuart ; Baudot, Jérome ; Bekele, Selemon ; Belaga, Victoria Vladimirovna ; Bellwied, Rene ; Berger, Jens ; Bichsel, Hans ; Billmeier, Anja ; Bland, Leslie C. ; Blyth, Charles O. ; Bonner, Billy E. ; Botje, Michiel ; Boucham, Abdelkrim ; Brandin, Andrei V. ; Bravar, Alessandro ; Cadman, R. V. ; Cai, Xiang-Zhou ; Caines, Helen Louise ; Calderón de la Barca Sánchez, Manuel ; Cardenas, Alex ; Carroll, J. ; Castillo Castellanos, Javier Ernesto ; Castro, M. ; Cebra, Daniel A. ; Chaloupka, Petr ; Chattopadhyay, S. ; Chen, Yu ; Chernenko, S. P. ; Cherney, Michael Gerard ; Chikanian, Alexei ; Choi, Bum ; Christie, William ; Coffin, Jean Pierre ; Cormier, Thomas Michael ; Corral, M. Mora ; Cramer, John G. ; Crawford, Henry J. ; Derevschikov, Anatoly A. ; Didenko, Lidia ; Dietel, Thomas ; Draper, James E. ; Dunin, V. B. ; Dunlop, James C. ; Eckardt, Volker ; Efimov, Leonid G. ; Emelianov, V. ; Engelage, Jon M. ; Eppley, Geary Wareham ; Erazmus, Barbara Ewa ; Fachini, Patricia ; Faine, V. ; Faivre, Julien ; Fatemi, Renee H. ; Filimonov, Kirill ; Finch, Evan ; Fisyak, Yuri V. ; Flierl, Dominik Bernhard ; Foley, K. J. ; Fu, Jinghua ; Gagliardi, Carl A. ; Gagunashvili, N. ; Gans, Jon ; Gaudichet, Ludovic ; Germain, Marie ; Geurts, Frank ; Ghazikhanian, Vahe ; Grachov, Oleg A. ; Guedon, M. ; Guertin, Steven M. ; Gushin, E. ; Gutierrez, Thomas Dominic ; Hallman, Timothy J. ; Hardtke, David H. ; Harris, John W. ; Heinz, Mark ; Henry, Thomas W. ; Heppelmann, Steven Francis ; Herston, Timothy ; Hippolyte, Boris ; Hirsch, Andrew S. ; Hjort, Eric ; Hoffmann, Gerald W. ; Horsley, Matthew ; Huang, Huan Zhong ; Humanic, Thomas J. ; Igo, George J. ; Ishihara, Aya ; Jacobs, Peter Martin ; Jacobs, William W. ; Janik, Michał ; Johnson, Ian ; Jones, Peter Graham ; Judd, Eleanor G. ; Kabana, Sonia ; Kaneta, Kaneta ; Kaplan, Morton ; Keane, Declan ; Kiryluk, Joanna ; Kisiel, Adam Ryszard ; Klay, Jennifer Lynn ; Klein, Spencer Robert ; Klyachko, A. ; Kollegger, Thorsten ; Konstantinov, A. S. ; Kopytine, M. ; Kotchenda, L. ; Kovalenko, A. D. ; Kramer, M. ; Kravtsov, Peter ; Krueger, Keith William ; Kuhn, Christian Claude ; Kulikov, Anatoly I. ; Kunde, Gerd J. ; Kunz, Christopher Lee ; Kutuev, R. Kh. ; Kuznetsov, A. A. ; Lamont, Matthew A. C. ; Landgraf, Jeffery M. ; Lange, S. ; Lansdell, Curtis Patrick Leon ; Lasiuk, Brian ; Laue, Frank ; Lauret, Jerome ; Lebedev, Alexei ; Lednický, Richard ; Leontiev, V. M. ; LeVine, Micheal J. ; Li, Q. ; Lindenbaum, Sam J. ; Lisa, Michael A. ; Liu, Feng ; Liu, L. ; Liu, Zhixu ; Liu, Q. J. ; Ljubicic, Tonko A. ; Llope, William Joseph ; Long, Hui ; Longacre, Ronald S. ; Lopez-Noriega, Mercedes ; Love, William A. ; Ludlam, Thomas ; Lynn, David ; Ma, Jingguo ; Ma, Yu-Gang ; Magestro, Daniel ; Majka, Richard Daniel ; Margetis, Spyridon ; Markert, Christina ; Martin, L. ; Marx, Jay N. ; Matis, Howard S. ; Matulenko, Yuri A. ; McShane, Tom S. ; Meissner, F. ; Melnick, Yu. ; Meščanin, Aleksei P. ; Messer, Matthias ; Miller, Michael L. ; Milosevich, Z. ; Minaev, Nikolai G. ; Mitchell, J. ; Molnar, Levente ; Moore, C. F. ; Morozov, Vladimir ; de Moura, M. M. ; Munhoz, Marcelo Gameiro ; Nelson, John M. ; Nevski, P. ; Nikitin, Vladimir A. ; Nogach, Larisa V. ; Norman, Ben ; Nurušev, Sandibek B. ; Odyniec, Grazyna Janina ; Ogawa, Akio ; Okorokov, Vitaly A. ; Oldenburg, Markus D. ; Olson, Douglas L. ; Paic, Guy ; Pandey, S. U. ; Panebratsev, Yuri ; Panitkin, Sergei Yurievich ; Pavlinov, A. I. ; Pawlak, Tomasz Jan ; Perevoztchikov, V. ; Peryt, Wiktor Stanislaw ; Petrov, V. A ; Picha, R. ; Planinic, Mirko ; Pluta, Jan Marian ; Porile, Norbert T. ; Porter, Jeffrey Brent ; Poskanzer, Arthur M. ; Potrebenikova, E. ; Prindle, Duncan J. ; Pruneau, Claude A. ; Putschke, Jörn H. ; Rai, Gulshan ; Rakness, Gregory L. ; Ravel, Olivier ; Ray, Robert L. ; Razin, Sergej V. ; Reichhold, Dennis Michael ; Reid, Jeffrey G. ; Renault, Gael ; Retiere, Fabrice ; Ridiger, Alexey ; Ritter, Hans Georg ; Roberts, Jabus B. ; Rogachevski, O. V. ; Romero, Juan L. ; Rose, A. ; Roy, Christelle Sophie ; Rykov, Vladimir L. ; Sakrejda, Iwona ; Salur, Sevil ; Sandweiss, Jack H. ; Savin, Igor A. ; Schambach, Joachim ; Scharenberg, Rolf Paul ; Schmitz, Norbert ; Schroeder, Lee S. ; Schweda, Kai ; Seger, Janet Elizabeth ; Seyboth, Peter ; Shahaliev, Ehtiram ; Shestermanov, Konstantin E. ; Shimanskii, S. S. ; Simon, Frank ; Skoro, Goran P. ; Smirnov, Nikolai ; Snellings, Raimond ; Sorensen, Paul ; Sowinski, James ; Spinka, Harold. M. ; Srivastava, Brijesh Kumar ; Stephenson, Edward J. ; Stock, Reinhard ; Stolpovsky, Alexander ; Strichanov, Michail Nikolaevič ; Stringfellow, Blair ; Struck, Christof ; Suaide, Alexandre Alarcon do Passo ; Sugarbaker, Evan R. ; Suire, Christophe Pierre ; Šumbera, Michal ; Surrow, Bernd ; Symons, Timothy James MacNeil ; Toledo, Alejandro Szanto de ; Szarwas, Piotr ; Tai, An ; Takahashi, Jun ; Tang, Aihong ; Thein, Dylan ; Thomas, James H. ; Thompson, M. ; Timoshenko, Sergei ; Tokarev, Mikhail V. ; Tonjes, Marguerite B. ; Trainor, Thomas A. ; Trentalange, Stephen ; Tribble, Robert E. ; Trofimov, V. ; Tsai, Oleg D. ; Ullrich, Thomas ; Underwood, David G. ; Van Buren, Gene ; Vander Molen, A. M. ; Vasiliev, Alexander Nikolaevich ; Vigdor, Steven E. ; Voloshin, Sergei ; Vznuzdaev, Marat ; Wang, F. ; Wang, Yiqun ; Ward, H. ; Watson, J. W. ; Wells, Randy ; Westfall, Gary D. ; Whitten, Charles A. ; Wieman, Howard ; Willson, Robert ; Wissink, Scott W. ; Witt, Richard ; Wood, Jeff ; Xu, N. ; Xu, Zhangbu ; Yakutin, A. E. ; Yamamoto, Eugene ; Yang, J. ; Yepes, Pablo P. ; Yurevich, Vladimir Yurevich ; Zanevski, Y. V. ; Zborovský, I. ; Zhang, Haitao ; Zhang, W. M. ; Zoulkarneev, R. ; Zoulkarneeva, J. ; Zubarev, A. N.
Data from the first physics run at the Relativistic Heavy-Ion Collider at Brookhaven National Laboratory, Au+Au collisions at sqrt[sNN]=130 GeV, have been analyzed by the STAR Collaboration using three-pion correlations with charged pions to study whether pions are emitted independently at freeze-out. We have made a high-statistics measurement of the three-pion correlation function and calculated the normalized three-particle correlator to obtain a quantitative measurement of the degree of chaoticity of the pion source. It is found that the degree of chaoticity seems to increase with increasing particle multiplicity.
Hudson, Lawrence N. ; Newbold, Tim ; Contu, Sara ; Hill, Samantha L. L. ; Lysenko, Igor ; Palma, Adriana de ; Phillips, Helen R. P. ; Senior, Rebecca A. ; Bennett, Dominic J. ; Booth, Hollie ; Choimes, Argyrios ; Correia, David L. P. ; Day, Julie ; Echeverria-Londono, Susy ; Garon, Morgan ; Harrison, Michelle L. K. ; Ingram, Daniel J. ; Jung, Martin ; Kemp, Victoria ; Kirkpatrick, Lucinda ; Martin, Callum D. ; Pan, Yuan ; White, Hannah J. ; Aben, Job ; Abrahamczyk, Stefan ; Adum, Gilbert B. ; Aguilar-Barquero, Virginia ; Aizen, Marcelo ; Ancrenaz, Marc ; Arbelaez-Cortes, Enrique ; Armbrecht, Inge ; Azhar, Badrul ; Azpiroz, Adrián B. ; Baeten, Lander ; Báldi, András ; Banks, John E. ; Barlow, Jos ; Batáry, Péter ; Bates, Adam J. ; Bayne, Erin M. ; Beja, Pedro ; Berg, Åke ; Berry, Nicholas J. ; Bicknell, Jake E. ; Bihn, Jochen H. ; Böhning-Gaese, Katrin ; Boekhout, Teun ; Boutin, Celine ; Bouyer, Jeremy ; Brearley, Francis Q. ; Brito, Isabel ; Brunet, Jörg ; Buczkowski, Grzegorz ; Buscardo, Erika ; Cabra-Garcia, Jimmy ; Calvino-Cancela, Maria ; Cameron, Sydney A. ; Cancello, Eliana M. ; Carrijo, Tiago F. ; Carvalho, Anelena L. ; Castro, Helena ; Castro-Luna, Alejandro Antonio ; Cerda, Rolando ; Cerezo, Alexis ; Chauvat, Matthieu ; Clarke, Frank M. ; Cleary, Daniel F. R. ; Connop, Stuart P. ; D'Aniello, Biagio ; Silva, Pedro Giovani da ; Darvill, Ben ; Dauber, Jens ; Dejean, Alain ; Diekötter, Tim ; Dominguez-Haydar, Yamileth ; Dormann, Carsten F. ; Dumont, Bertrand ; Dures, Simon G. ; Dynesius, Mats ; Edenius, Lars ; Elek, Zoltan ; Entling, Martin H. ; Farwig, Nina ; Fayle, Tom M. ; Felicioli, Antonio ; Felton, Annika M. ; Ficetola, Gentile Francesco ; Filgueiras, Bruno K. C. ; Fonte, Steve J. ; Fraser, Lauchlan H. ; Fukuda, Daisuke ; Furlani, Dario ; Ganzhorn, Jörg U. ; Garden, Jenni G. ; Gheler-Costa, Carla ; Giordani, Paolo ; Giordano, Simonetta ; Gottschalk, Marco S. ; Goulson, Dave ; Gove, Aaron D. ; Grogan, James ; Hanley, Mick E. ; Hanson, Thor ; Hashim, Nor R. ; Hawes, Joseph E. ; Hébert, Christian ; Helden, Alvin J. ; Henden, John-André ; Hernández, Lionel ; Herzog, Felix ; Higuera-Diaz, Diego ; Hilje, Branko ; Horgan, Finbarr G. ; Horvath, Roland ; Hylander, Kristoffer ; Horvath, Roland ; Isaacs-Cubides, Paola ; Ishitani, Mashiro ; Jacobs, Carmen T. ; Jaramillo, Victor J. ; Jauker, Birgit ; Jonsell, Matts ; Jung, Thomas S. ; Kapoor, Vena ; Kati, Vassiliki ; Katovai, Eric ; Kessler, Michael ; Knop, Eva ; Kolb, Annette ; Körösi, Àdám ; Lachat, Thibault ; Lantschner, Victoria ; Le Féon, Violette ; LeBuhn, Gretchen ; Légaré, Jean-Philippe ; Letcher, Susan G. ; Littlewood, Nick A. ; López-Quintero, Carlos A. ; Louhaichi, Mounir ; Lövei, Gabor L. ; Lucas-Borja, Manuel Esteban ; Luja, Victor H. ; Maeto, Kaoru ; Magura, Tibor ; Mallari, Neil Aldrin D. ; Marin-Spiotta, Erika ; Marshall, Edward Jon P. ; Martínez, Eliana ; Mayfield, Margaret M. ; Mikusinski, Gregorz ; Milder, Jeffery C. ; Miller, James R. ; Morales, Carolina L. ; Muriithi-Muchane, Mary Nyawira ; Muchane, Muchai ; Naidoo, Robin ; Nakamura, Akihiro ; Naoe, Shoji ; Nates-Parra, Guiomar ; Navarerete Gutierrez, Dario A. ; Neuschulz, Eike Lena ; Noreika, Norbertas ; Norfolk, Olivia ; Noriega, Jorge Ari ; Nöske, Nicole M. ; O'Dea, Niall ; Oduro, William ; Ofori-Boateng, Caleb ; Oke, Chris O. ; Osgathorpe, Lynne M. ; Paritsis, Juan ; Parrah, Alejandro ; Pelegrin, Nicolás ; Peres, Carlos A. ; Persson, Anna S. ; Petanidou, Theodora ; Phalan, Ben ; Philips, T. Keith ; Poveda, Katja ; Power, Eileen F. ; Presley, Steven J. ; Proença, Vânia ; Quaranta, Marino ; Quintero, Carolina ; Redpath-Downing, Nicola A. ; Reid, J. Leighton ; Reis, Yana T. ; Ribeiro, Danilo B. ; Richardson, Barbara A. ; Richardson, Michael J. ; Robles, Carolina A. ; Römbke, Jörg ; Romero-Duque, Luz Piedad ; Rosselli, Loreta ; Rossiter, Stephen J. ; Roulston, T'ai H. ; Rousseau, Laurent ; Sadler, Jonathan P. ; Sáfián, Szbolcs ; Saldaña-Vásquez, Romeo A. ; Samnegård, Ulrika ; Schüepp, Christof ; Schweiger, Oliver ; Sedlock, Jodi L. ; Shahabuddin, Ghazala ; Sheil, Douglas ; Silva, Fernando A. B. ; Slade, Eleanor ; Smith-Pardo, Allan H. ; Sodhi, Navjot S. ; Somarriba, Eduardo J. ; Sosa, Ramón A. ; Stout, Jane C. ; Struebig, Matthew J. ; Sung, Yik-Hei ; Threlfall, Caragh G. ; Tonietto, Rebecca ; Tóthmérész, Béla ; Tscharntke, Teja ; Turner, Edgar C. ; Tylianakis, Jason M. ; Vanbergen, Adam J. ; Vassilev, Kiril ; Verboven, Hans A. F. ; Vergara, Carlos H. ; Vergara, Pablo M. ; Verhulst, Jort ; Walker, Tony R. ; Wang, Yanping ; Watling, James I. ; Wells, Konstans ; Williams, Christopher D. ; Willig, Michael R. ; Woinarski, John Casimir Zichy ; Wolf, Jan H. D. ; Woodcock, Ben A. ; Yu, Douglas W. ; Zailsev, Andreys ; Collen, Ben ; Ewers, Rob M. ; Mace, Georgina M. ; Purves, Drew W. ; Scharlemann, Jörn P. W. ; Pervis, Andy
Biodiversity continues to decline in the face of increasing anthropogenic pressures such as habitat destruction, exploitation, pollution and introduction of alien species. Existing global databases of species’ threat status or population time series are dominated by charismatic species. The collation of datasets with broad taxonomic and biogeographic extents, and that support computation of a range of biodiversity indicators, is necessary to enable better understanding of historical declines and to project – and avert – future declines. We describe and assess a new database of more than 1.6 million samples from 78 countries representing over 28,000 species, collated from existing spatial comparisons of local-scale biodiversity exposed to different intensities and types of anthropogenic pressures, from terrestrial sites around the world. The database contains measurements taken in 208 (of 814) ecoregions, 13 (of 14) biomes, 25 (of 35) biodiversity hotspots and 16 (of 17) megadiverse countries. The database contains more than 1% of the total number of all species described, and more than 1% of the described species within many taxonomic groups – including flowering plants, gymnosperms, birds, mammals, reptiles, amphibians, beetles, lepidopterans and hymenopterans. The dataset, which is still being added to, is therefore already considerably larger and more representative than those used by previous quantitative models of biodiversity trends and responses. The database is being assembled as part of the PREDICTS project (Projecting Responses of Ecological Diversity In Changing Terrestrial Systems – www.predicts.org.uk). We make site-level summary data available alongside this article. The full database will be publicly available in 2015.
Anney, Richard ; Klei, Lambertus ; Pinto, Dalila ; Almeida, Joana ; Bacchelli, Elena ; Baird, Gillian ; Bolshakova, Nadia ; Bölte, Sven ; Bolton, Patrick F. ; Bourgeron, Thomas ; Brennan, Sean ; Brian, Jessica ; Casey, Jillian ; Conroy, Judith ; Correia, Catarina ; Corsello, Christina ; Crawford, Emily L. ; Jonge, Maretha de ; Delorme, Richard ; Duketis, Eftichia ; Duque, Frederico ; Estes, Annette ; Farrar, Penny ; Fernandez, Bridget A. ; Folstein, Susan E. ; Fombonne, Eric ; Gilbert, John ; Gillberg, Christopher ; Glessner, Joseph T. ; Green, Andrew ; Green, Jonathan ; Guter, Stephen J. ; Heron, Elizabeth A. ; Holt, Richard ; Howe, Jennifer L. ; Hughes, Gillian ; Hus, Vanessa ; Igliozzi, Roberta ; Jacob, Suma ; Kenny, Graham P. ; Kim, Cecilia ; Kolevzon, Alexander ; Kustanovich, Vlad ; Lajonchere, Clara M. ; Lamb, Janine A. ; Law-Smith, Miriam ; Leboyer, Marion ; Le Couteur, Ann ; Leventhal, Bennett L. ; Liu, Xiao-Qing ; Lombard, Frances ; Lord, Catherine ; Lotspeich, Linda ; Lotspeich, Linda ; Lund, Sabata C. ; Magalhães, Tiago R. ; Mantoulan, Carine ; McDougle, Christopher J. ; Melhem, Nadine M. ; Merikangas, Alison ; Minshew, Nancy J. ; Mirza, Ghazala K. ; Munson, Jeff ; Noakes, Carolyn ; Nygren, Gudrun ; Papanikolaou, Katerina ; Pagnamenta, Alistair T. ; Parrini, Barbara ; Paton, Tara ; Paton, Tara ; Pickles, Andrew ; Posey, David J. ; Poustka, Fritz ; Ragoussis, Jiannis ; Regan, Regina ; Roberts, Wendy ; Roeder, Kathryn ; Roge, Bernadette ; Rutter, Michael L. ; Schlitt, Sabine ; Shah, Naisha ; Sheffield, Val C. ; Soorya, Latha ; Sousa, Inês ; Stoppioni, Vera ; Sykes, Nuala ; Tancredi, Raffaella ; Thompson, Ann P. ; Thomson, Susanne ; Tryfon, Ana ; Tsiantis, John ; Engeland, Herman van ; Vincent, John B. ; Volkmar, Fred ; Vorstman, JAS ; Wallace, Simon ; Wing, Kirsty ; Wittemeyer, Kerstin ; Wood, Shawn ; Zurawiecki, Danielle ; Zwaigenbaum, Lonnie ; Bailey, Anthony J. ; Battaglia, Agatino ; Cantor, Rita M. ; Coon, Hilary ; Cuccaro, Michael L. ; Dawson, Geraldine ; Ennis, Sean ; Freitag, Christine M. ; Geschwind, Daniel H. ; Haines, Jonathan L. ; Klauck, Sabine M. ; McMahon, William M. ; Maestrini, Elena ; Miller, Judith ; Monaco, Anthony P. ; Nelson, Stanley F. ; Nurnberger, John I. ; Oliveira, Guiomar ; Parr, Jeremy R. ; Pericak-Vance, Margaret Ann ; Piven, Joseph ; Schellenberg, Gerard D. ; Scherer, Stephen W. ; Vicente, Astrid M. ; Wassink, Thomas H. ; Wijsman, Ellen M. ; Betancur, Catalina ; Buxbaum, Joseph D. ; Cook, Edwin H. ; Gallagher, Louise ; Gill, Michael ; Hallmayer, Joachim ; Paterson, Andrew D. ; Sutcliffe, James S. ; Szatmari, Peter ; Vieland, Veronica J. ; Hakonarson, Hakon ; Devlin, Bernie
While it is apparent that rare variation can play an important role in the genetic architecture of autism spectrum disorders (ASDs), the contribution of common variation to the risk of developing ASD is less clear. To produce a more comprehensive picture, we report Stage 2 of the Autism Genome Project genome-wide association study, adding 1301 ASD families and bringing the total to 2705 families analysed (Stages 1 and 2). In addition to evaluating the association of individual single nucleotide polymorphisms (SNPs), we also sought evidence that common variants, en masse, might affect the risk. Despite genotyping over a million SNPs covering the genome, no single SNP shows significant association with ASD or selected phenotypes at a genome-wide level. The SNP that achieves the smallest P-value from secondary analyses is rs1718101. It falls in CNTNAP2, a gene previously implicated in susceptibility for ASD. This SNP also shows modest association with age of word/phrase acquisition in ASD subjects, of interest because features of language development are also associated with other variation in CNTNAP2. In contrast, allele scores derived from the transmission of common alleles to Stage 1 cases significantly predict case status in the independent Stage 2 sample. Despite being significant, the variance explained by these allele scores was small (Vm< 1%). Based on results from individual SNPs and their en masse effect on risk, as inferred from the allele score results, it is reasonable to conclude that common variants affect the risk for ASD but their individual effects are modest.
Anney, Richard ; Klei, Lambertus ; Pinto, Dalila ; Regan, Regina ; Conroy, Judith ; Magalhães, Tiago R. ; Correia, Catarina ; Abrahams, Brett S. ; Sykes, Nuala ; Pagnamenta, Alistair T. ; Almeida, Joana ; Bacchelli, Elena ; Bailey, Anthony J. ; Baird, Gillian ; Battaglia, Agatino ; Berney, Tom ; Bolshakova, Nadia ; Bölte, Sven ; Bolton, Patrick F. ; Bourgeron, Thomas ; Brennan, Sean ; Brian, Jessica ; Carson, Andrew R. ; Casallo, Guillermo ; Casey, Jillian ; Chu, Su H. ; Cochrane, Lynne ; Corsello, Christina ; Crawford, Emily L. ; Crossett, Andrew ; Dawson, Geraldine ; Jonge, Maretha de ; Delorme, Richard ; Drmic, Irene ; Duketis, Eftichia ; Duque, Frederico ; Estes, Annette ; Farrar, Penny ; Fernandez, Bridget A. ; Folstein, Susan E. ; Fombonne, Eric ; Freitag, Christine M. ; Gilbert, John ; Gillberg, Christopher ; Glessner, Joseph T. ; Goldberg, Jeremy ; Green, Jonathan ; Guter, Stephen J. ; Hakonarson, Hakon ; Heron, Elizabeth A. ; Hill, Matthew ; Holt, Richard ; Howe, Jennifer L. ; Hughes, Gillian ; Hus, Vanessa ; Igliozzi, Roberta ; Kim, Cecilia ; Klauck, Sabine M. ; Kolevzon, Alexander ; Korvatska, Olena ; Kustanovich, Vlad ; Lajonchere, Clara M. ; Lamb, Janine A. ; Laskawiec, Magdalena ; Leboyer, Marion ; Le Couteur, Ann ; Leventhal, Bennett L. ; Lionel, Anath C. ; Liu, Xiao-Qing ; Lord, Catherine ; Lotspeich, Linda ; Lund, Sabata C. ; Maestrini, Elena ; Mahoney, William ; Mantoulan, Carine ; Marshall, Christian R. ; McConachie, Helen ; McDougle, Christopher J. ; McGrath, Jane ; McMahon, William M. ; Melhem, Nadine M. ; Merikangas, Alison ; Migita, Ohsuke ; Minshew, Nancy J. ; Mirza, Ghazala K. ; Munson, Jeff ; Nelson, Stanley F. ; Noakes, Carolyn ; Noor, Abdul ; Nygren, Gudrun ; Oliveira, Guiomar ; Papanikolaou, Katerina ; Parr, Jeremy R. ; Parrini, Barbara ; Paton, Tara ; Pickles, Andrew ; Piven, Joseph ; Posey, David J. ; Poustka, Annemarie ; Poustka, Fritz ; Prasad, Aparna ; Ragoussis, Jiannis ; Renshaw, Katy ; Rickaby, Jessica ; Roberts, Wendy ; Roeder, Kathryn ; Roge, Bernadette ; Rutter, Michael L. ; Bierut, Laura Jean ; Rice, John P. ; Salt, Jeff ; Sansom, Katherine ; Sato, Daisuke ; Segurado, Ricardo ; Senman, Lili ; Shah, Naisha ; Sheffield, Val C. ; Soorya, Latha ; Sousa, Inês ; Stoppioni, Vera ; Strawbridge, Christina ; Tancredi, Raffaella ; Tansey, Katherine ; Thiruvahindrapduram, Bhooma ; Thompson, Ann P. ; Thomson, Susanne ; Tryfon, Ana ; Tsiantis, John ; Engeland, Herman van ; Vincent, John B. ; Volkmar, Fred ; Wallace, Simon ; Wang, Kai ; Wang, Zhouzhi ; Wassink, Thomas H. ; Wing, Kirsty ; Wittemeyer, Kerstin ; Wood, Shawn ; Yaspan, Brian L. ; Zurawiecki, Danielle ; Zwaigenbaum, Lonnie ; Betancur, Catalina ; Buxbaum, Joseph D. ; Cantor, Rita M. ; Cook, Edwin H. ; Coon, Hilary ; Cuccaro, Michael L. ; Gallagher, Louise ; Geschwind, Daniel H. ; Gill, Michael ; Haines, Jonathan L. ; Miller, Judith ; Monaco, Anthony P. ; Nurnberger, John I. ; Paterson, Andrew D. ; Pericak-Vance, Margaret Ann ; Schellenberg, Gerard D. ; Scherer, Stephen W. ; Sutcliffe, James S. ; Szatmari, Peter ; Vicente, Astrid M. ; Vieland, Veronica J. ; Wijsman, Ellen M. ; Devlin, Bernie ; Ennis, Sean ; Hallmayer, Joachim
Although autism spectrum disorders (ASDs) have a substantial genetic basis, most of the known genetic risk has been traced to rare variants, principally copy number variants (CNVs). To identify common risk variation, the Autism Genome Project (AGP) Consortium genotyped 1558 rigorously defined ASD families for 1 million single-nucleotide polymorphisms (SNPs) and analyzed these SNP genotypes for association with ASD. In one of four primary association analyses, the association signal for marker rs4141463, located within MACROD2, crossed the genome-wide association significance threshold of P < 5 × 10−8. When a smaller replication sample was analyzed, the risk allele at rs4141463 was again over-transmitted; yet, consistent with the winner's curse, its effect size in the replication sample was much smaller; and, for the combined samples, the association signal barely fell below the P < 5 × 10−8 threshold. Exploratory analyses of phenotypic subtypes yielded no significant associations after correction for multiple testing. They did, however, yield strong signals within several genes, KIAA0564, PLD5, POU6F2, ST8SIA2 and TAF1C.
Casey, Jillian P. ; Magalhães, Tiago R. ; Conroy, Judith M. ; Regan, Regina ; Shah, Naisha ; Anney, Richard ; Shields, Denis C. ; Abrahams, Brett S. ; Almeida, Joana ; Bacchelli, Elena ; Bailey, Anthony J. ; Baird, Gillian ; Battaglia, Agatino ; Berney, Tom ; Bolshakova, Nadia ; Bolton, Patrick F. ; Bourgeron, Thomas ; Brennan, Sean ; Cali, Phil ; Correia, Catarina ; Corsello, Christina ; Coutanche, Marc ; Dawson, Geraldine ; Jonge, Maretha de ; Delorme, Richard ; Duketis, Eftichia ; Duque, Frederico ; Estes, Annette ; Farrar, Penny ; Fernandez, Bridget A. ; Folstein, Susan E. ; Foley, Suzanne ; Fombonne, Eric ; Freitag, Christine M. ; Gilbert, John ; Gillberg, Christopher ; Glessner, Joseph T. ; Green, Jonathan ; Guter, Stephen J. ; Hakonarson, Hakon ; Holt, Richard ; Hughes, Gillian ; Hus, Vanessa ; Igliozzi, Roberta ; Kim, Cecilia ; Klauck, Sabine M. ; Kolevzon, Alexander ; Lamb, Janine A. ; Leboyer, Marion ; Le Couteur, Ann ; Leventhal, Bennett L. ; Lord, Catherine ; Lund, Sabata C. ; Maestrini, Elena ; Mantoulan, Carine ; Marshall, Christian R. ; McConachie, Helen ; McDougle, Christopher J. ; McGrath, Jane ; McMahon, William M. ; Merikangas, Alison ; Miller, Judith ; Minopoli, Fiorella ; Mirza, Ghazala K. ; Munson, Jeff ; Nelson, Stanley F. ; Nygren, Gudrun ; Oliveira, Guiomar ; Pagnamenta, Alistair T. ; Papanikolaou, Katerina ; Parr, Jeremy R. ; Parrini, Barbara ; Pickles, Andrew ; Pinto, Dalila ; Piven, Joseph ; Posey, David J. ; Poustka, Annemarie ; Poustka, Fritz ; Ragoussis, Jiannis ; Roge, Bernadette ; Rutter, Michael L. ; Sequeira, Ana F. ; Soorya, Latha ; Sousa, Inês ; Sykes, Nuala ; Stoppioni, Vera ; Tancredi, Raffaella ; Tauber, Maïté ; Thompson, Ann P. ; Thomson, Susanne ; Tsiantis, John ; Engeland, Herman van ; Vincent, John B. ; Volkmar, Fred ; Vorstman, Jacob A. S. ; Wallace, Simon ; Wang, Kai ; Wassink, Thomas H. ; White, Kathy ; Wing, Kirsty ; Wittemeyer, Kerstin ; Yaspan, Brian L. ; Zwaigenbaum, Lonnie ; Betancur, Catalina ; Buxbaum, Joseph D. ; Cantor, Rita M. ; Cook, Edwin H. ; Coon, Hilary ; Cuccaro, Michael L. ; Geschwind, Daniel H. ; Haines, Jonathan L. ; Hallmayer, Joachim ; Monaco, Anthony P. ; Nurnberger, John I. ; Pericak-Vance, Margaret Ann ; Schellenberg, Gerard D. ; Scherer, Stephen W. ; Sutcliffe, James S. ; Szatmari, Peter ; Vieland, Veronica J. ; Wijsman, Ellen M. ; Green, Andrew ; Gill, Michael ; Gallagher, Louise ; Vicente, Astrid M. ; Ennis, Sean
Autism spectrum disorder (ASD) is a highly heritable disorder of complex and heterogeneous aetiology. It is primarily characterized by altered cognitive ability including impaired language and communication skills and fundamental deficits in social reciprocity. Despite some notable successes in neuropsychiatric genetics, overall, the high heritability of ASD (~90%) remains poorly explained by common genetic risk variants. However, recent studies suggest that rare genomic variation, in particular copy number variation, may account for a significant proportion of the genetic basis of ASD. We present a large scale analysis to identify candidate genes which may contain low-frequency recessive variation contributing to ASD while taking into account the potential contribution of population differences to the genetic heterogeneity of ASD. Our strategy, homozygous haplotype (HH) mapping, aims to detect homozygous segments of identical haplotype structure that are shared at a higher frequency amongst ASD patients compared to parental controls. The analysis was performed on 1,402 Autism Genome Project trios genotyped for 1 million single nucleotide polymorphisms (SNPs). We identified 25 known and 1,218 novel ASD candidate genes in the discovery analysis including CADM2, ABHD14A, CHRFAM7A, GRIK2, GRM3, EPHA3, FGF10, KCND2, PDZK1, IMMP2L and FOXP2. Furthermore, 10 of the previously reported ASD genes and 300 of the novel candidates identified in the discovery analysis were replicated in an independent sample of 1,182 trios. Our results demonstrate that regions of HH are significantly enriched for previously reported ASD candidate genes and the observed association is independent of gene size (odds ratio 2.10). Our findings highlight the applicability of HH mapping in complex disorders such as ASD and offer an alternative approach to the analysis of genome-wide association data.
Hossaini, Ryan ; Patra, Prabir K. ; Leeson, Amber A. ; Krysztofiak, Gisèle ; Abraham, N. Luke ; Andrews, Steve J. ; Archibald, Alexander Thomas ; Aschmann, Jan ; Atlas, Elliot L. ; Belikov, Dmitry A. ; Bönisch, Harald ; Carpenter, Lucy J. ; Dhomse, Sandip ; Dorf, Marcel ; Engel, Andreas ; Feng, Wuhu ; Fuhlbrügge, Steffen ; Griffiths, Paul T. ; Harris, Neil R. P. ; Hommel, René ; Keber, Timo ; Krüger, Kirstin ; Lennartz, Sinikka T. ; Maksyutov, Shamil ; Mantle, Hannah ; Mills, Graham ; Miller, Benjamin R. ; Montzka, Stephen A. ; Moore, Fred ; Navarro, Maria A. ; Oram, David ; Pfeilsticker, Klaus ; Pyle, John A. ; Quack, Birgit ; Robinson, Andrew D. ; Saikawa, Eri ; Saiz-Lopez, Alfonso ; Sala, Stephan ; Sinnhuber, Björn-Martin ; Taguchi, Shoichi ; Tegtmeier, Susann ; Lidster, Richard Terence ; Wilson, Chris ; Ziska, Franziska
The first concerted multi-model intercomparison of halogenated very short-lived substances (VSLS) has been performed, within the framework of the ongoing Atmospheric Tracer Transport Model Intercomparison Project (TransCom). Eleven global models or model variants participated (nine chemical transport models and two chemistry–climate models) by simulating the major natural bromine VSLS, bromoform (CHBr3) and dibromomethane (CH2Br2), over a 20-year period (1993–2012). Except for three model simulations, all others were driven offline by (or nudged to) reanalysed meteorology. The overarching goal of TransCom-VSLS was to provide a reconciled model estimate of the stratospheric source gas injection (SGI) of bromine from these gases, to constrain the current measurement-derived range, and to investigate inter-model differences due to emissions and transport processes. Models ran with standardised idealised chemistry, to isolate differences due to transport, and we investigated the sensitivity of results to a range of VSLS emission inventories. Models were tested in their ability to reproduce the observed seasonal and spatial distribution of VSLS at the surface, using measurements from NOAA's long-term global monitoring network, and in the tropical troposphere, using recent aircraft measurements – including high-altitude observations from the NASA Global Hawk platform.
The models generally capture the observed seasonal cycle of surface CHBr3 and CH2Br2 well, with a strong model–measurement correlation (r ≥ 0.7) at most sites. In a given model, the absolute model–measurement agreement at the surface is highly sensitive to the choice of emissions. Large inter-model differences are apparent when using the same emission inventory, highlighting the challenges faced in evaluating such inventories at the global scale. Across the ensemble, most consistency is found within the tropics where most of the models (8 out of 11) achieve best agreement to surface CHBr3 observations using the lowest of the three CHBr3 emission inventories tested (similarly, 8 out of 11 models for CH2Br2). In general, the models reproduce observations of CHBr3 and CH2Br2 obtained in the tropical tropopause layer (TTL) at various locations throughout the Pacific well. Zonal variability in VSLS loading in the TTL is generally consistent among models, with CHBr3 (and to a lesser extent CH2Br2) most elevated over the tropical western Pacific during boreal winter. The models also indicate the Asian monsoon during boreal summer to be an important pathway for VSLS reaching the stratosphere, though the strength of this signal varies considerably among models.
We derive an ensemble climatological mean estimate of the stratospheric bromine SGI from CHBr3 and CH2Br2 of 2.0 (1.2–2.5) ppt, ∼ 57 % larger than the best estimate from the most recent World Meteorological Organization (WMO) Ozone Assessment Report. We find no evidence for a long-term, transport-driven trend in the stratospheric SGI of bromine over the simulation period. The transport-driven interannual variability in the annual mean bromine SGI is of the order of ±5 %, with SGI exhibiting a strong positive correlation with the El Niño–Southern Oscillation (ENSO) in the eastern Pacific. Overall, our results do not show systematic differences between models specific to the choice of reanalysis meteorology, rather clear differences are seen related to differences in the implementation of transport processes in the models.
Hossaini, Ryan ; Patra, Prabir K. ; Leeson, Amber A. ; Krysztofiak, Gisèle ; Abraham, N. Luke ; Andrews, Steve J. ; Archibald, Alexander Thomas ; Aschmann, Jan ; Atlas, Elliot L. ; Belikov, Dmitry A. ; Bönisch, Harald ; Butler, Robyn ; Carpenter, Lucy J. ; Dhomse, Sandip ; Dorf, Marcel ; Engel, Andreas ; Feng, Liang ; Feng, Wuhu ; Fuhlbrügge, Steffen ; Griffiths, Paul T. ; Harris, Neil R. P. ; Hommel, René ; Keber, Timo ; Krüger, Kirstin ; Lennartz, Sinikka T. ; Maksyutov, Shamil ; Mantle, Hannah ; Mills, Graham ; Miller, Benjamin R. ; Montzka, Stephen A. ; Moore, Fred ; Navarro, Maria A. ; Oram, David ; Palmer, Paul I. ; Pfeilsticker, Klaus ; Pyle, John A. ; Quack, Birgit ; Robinson, Andrew D. ; Saikawa, Eri ; Saiz-Lopez, Alfonso ; Sala, Stephan ; Sinnhuber, Björn-Martin ; Taguchi, Shoichi ; Tegtmeier, Susann ; Lidster, Richard Terence ; Wilson, Chris ; Ziska, Franziska
The first concerted multi-model intercomparison of halogenated very short-lived substances (VSLS) has been performed, within the framework of the ongoing Atmospheric Tracer Transport Model Intercomparison Project (TransCom). Eleven global models or model variants participated, simulating the major natural bromine VSLS, bromoform (CHBr3) and dibromomethane (CH2Br2), over a 20-year period (1993-2012). The overarching goal of TransCom-VSLS was to provide a reconciled model estimate of the stratospheric source gas injection (SGI) of bromine from these gases, to constrain the current measurement-derived range, and to investigate inter-model differences
due to emissions and transport processes. Models ran with standardised idealised chemistry, to isolate differences due to transport, and we investigated the sensitivity of results to a range of VSLS emission inventories. Models were tested in their ability to reproduce the observed seasonal and spatial distribution of VSLS at the surface, using measurements from NOAA’s long-term global monitoring network, and in the tropical troposphere, using recent aircraft measurements - including high altitude observations from the NASA Global Hawk platform.
The models generally capture the seasonal cycle of surface CHBr3 and CH2Br2 well, with a strong model measurement correlation (r ≥0.7) and a low sensitivity to the choice of emission inventory, at most sites. In a given model, the absolute model-measurement agreement is highly sensitive to the choice of emissions and inter-model differences are also apparent, even when using the same inventory, highlighting the challenges faced in evaluating such inventories at the global scale. Across the ensemble, most consistency is found within the tropics where most of the models (8 out of 11) achieve optimal agreement to surface CHBr3 observations using the lowest of the three CHBr3 emission inventories tested (similarly, 8 out of 11 models for CH2Br2). In general, the models are able to reproduce well observations of CHBr3 and CH2Br2 obtained in the tropical tropopause layer (TTL) at various locations throughout the Pacific. Zonal variability in VSLS loading in the TTL is generally consistent among models, with CHBr3 (and to a lesser extent CH2Br2) most elevated over the tropical West Pacific during boreal winter. The models also indicate the Asian Monsoon during boreal summer to be an important pathway for VSLS reaching the stratosphere, though the strength of this signal varies considerably among models.
We derive an ensemble climatological mean estimate of the stratospheric bromine SGI from CHBr3 and CH2Br2 of 2.0 (1.2-2.5) ppt, ∼57% larger than the best estimate from the most re- cent World Meteorological Organization (WMO) Ozone Assessment Report. We find no evidence for a long-term, transport-driven trend in the stratospheric SGI of bromine over the simulation period. However, transport-driven inter-annual variability in the annual mean bromine SGI is of the order of a ±5%, with SGI exhibiting a strong positive correlation with ENSO in the East Pacific
Records of Bahamas plume moths (Lepidoptera: Pterophoridae) collected since 2011 are summarized and four new species described: Michaelophorus salensis Matthews, new species, Oidaematophorus androsensis Matthews, new species, Hellinsia bahamensis Matthews, new species, and Hellinsia lucayana Matthews, new species. Species accounts including illustrations of adults and genitalia, diagnoses, larval hosts, habitats, and distributions are provided. Of the 23 species found, new larval host associations are reported for two species while the life histories remain unknown for seven species.
Scheidt, Moritz von ; Bauer, Sabine ; Ma, Angela ; Hao, Ke ; Kessler, Thorsten ; Vilne, Baiba ; Wang, Ying ; Hodonsky, Chani J. ; Ghosh, Saikat K.B. ; Mokry, Michal ; Gao, Hua ; Kawai, Kenji ; Sakamoto, Atsushi ; Kaiser, Juliane ; Bongiovanni, Dario ; Fleig, Julia ; Oldenbuettel, Lilith ; Chen, Zhifen ; Moggio, Aldo ; Sager, Hendrik ; Hecker, Judith S. ; Bassermann, Florian ; Mägdefessel, Lars ; Miller, Clint L. ; Koenig, Wolfgang ; Zeiher, Andreas M. ; Dimmeler, Stefanie ; Graw, Matthias ; Braun, Christian ; Ruusalepp, Arno ; Leeper, Nicholas J. ; Kovacic, Jason C. ; Björkegren, Johan L.M. ; Schunkert, Heribert
Background: Leukocyte progenitors derived from clonal hematopoiesis of undetermined potential (CHIP) are associated with increased cardiovascular events. However, the prevalence and functional relevance of CHIP in coronary artery disease (CAD) are unclear, and cells affected by CHIP have not been detected in human atherosclerotic plaques.
Methods: CHIP mutations in blood and tissues were identified by targeted deep-DNA-sequencing (DNAseq: coverage >3,000) and whole-genome-sequencing (WGS: coverage >35). CHIP-mutated leukocytes were visualized in human atherosclerotic plaques by mutaFISHTM. Functional relevance of CHIP mutations was studied by RNAseq.
Results: DNAseq of whole blood from 540 deceased CAD patients of the Munich cardIovaScular StudIes biObaNk (MISSION) identified 253 (46.9%) CHIP mutation carriers (mean age 78.3 years). DNAseq on myocardium, atherosclerotic coronary and carotid arteries detected identical CHIP mutations in 18 out of 25 mutation carriers in tissue DNA. MutaFISHTM visualized individual macrophages carrying DNMT3A CHIP mutations in human atherosclerotic plaques. Studying monocyte-derived macrophages from Stockholm-Tartu Atherosclerosis Reverse Networks Engineering Task (STARNET; n=941) by WGS revealed CHIP mutations in 14.2% (mean age 67.1 years). RNAseq of these macrophages revealed that expression patterns in CHIP mutation carriers differed substantially from those of non-carriers. Moreover, patterns were different depending on the underlying mutations, e.g. those carrying TET2 mutations predominantly displayed upregulated inflammatory signaling whereas ASXL1 mutations showed stronger effects on metabolic pathways.
Conclusions: Deep-DNA-sequencing reveals a high prevalence of CHIP mutations in whole blood of CAD patients. CHIP-affected leukocytes invade plaques in human coronary arteries. RNAseq data obtained from macrophages of CHIP-affected patients suggest that pro-atherosclerotic signaling differs depending on the underlying mutations. Further studies are necessary to understand whether specific pathways affected by CHIP mutations may be targeted for personalized treatment.
Barth, Klaus ; Belov, Alexander ; Beltran, Berta ; Bräuninger, Heinrich ; Carmona, José Manuel ; Collar, Juan I. ; Dafni, Theopisti ; Davenport, Martyn ; Di Lella, Luigi ; Eleftheriadis, Christos ; Englhauser, Jakob ; Fanourakis, George ; Ferrer-Ribas, Ester ; Fischer, Horst ; Franz, Jürgen ; Friedrich, Peter ; Galán, Javier ; García, J. A. ; Geralis, Theodoros ; Giomataris, Ioanis ; Gninenko, Sergei ; Gómez, Héctor ; Hasinoff, Michael D. ; Heinsius, Fritz-Herbert ; Hoffmann, Dieter H. H. ; Irastorza, Igor Garcia ; Jacoby, Joachim ; Jakovčić, Kresimir ; Kang, Donghwa ; Königsmann, Kay ; Kotthaus, Rainer ; Kousouris, Konstantinos ; Krčmar, Milica ; Kuster, M. ; Lakić, Biljana ; Liolios, Anastasios ; Ljubičić, Ante ; Lutz, Gerhard ; Luzón, Gloria ; Miller, David W. ; Papaevangelou, Thomas ; Pivovaroff, Mike J. ; Raffelt, Georg ; Redondo, Javier ; Riege, Hans ; Rodríguez, A. ; Ruz, Jaime ; Savvidis, Ilias ; Semertzidis, Yannis ; Stewart, Laura ; Van Bibber, Karl A. ; Vieira, Joaquin D. ; Villar, José A. ; Vogel, Julia K. ; Walckiers, Louis ; Zioutas, Konstantin
In non-hadronic axion models, which have a tree-level axion-electron interaction, the Sun produces a strong axion flux by bremsstrahlung, Compton scattering, and axiorecombination, the "BCA processes." Based on a new calculation of this flux, including for the first time axio-recombination, we derive limits on the axion-electron Yukawa coupling gae and axion-photon interaction strength ga using the CAST phase-I data (vacuum phase). For ma <~ 10 meV/c2 we find ga gae < 8.1 × 10−23 GeV−1 at 95% CL. We stress that a next-generation axion helioscope such as the proposed IAXO could push this sensitivity into a range beyond stellar energy-loss limits and test the hypothesis that white-dwarf cooling is dominated by axion emission.