Nature Genetics - Issue - nature.com science feeds Nature Genetics publishes the very highest quality research in genetics. It encompasses genetic and functional genomic studies on human traits and on other model organisms, including mouse, fly, nematode and yeast. Current emphasis is on the genetic basis for common and complex diseases and on the functional mechanism, architecture and evolution of gene networks, studied by experimental perturbation. http://www.nature.com/ng/current_issue/ Nature Publishing Group en © 2009 Nature Publishing Group Nature Genetics 1061-4036 1546-1718 © 2009 Nature Publishing Group permissions@nature.com Nature Genetics http://www.nature.com/includes/rj_globnavimages/ng_logo.gif http://www.nature.com/ng/ Data divorce http://feeds.nature.com/~r/ng/rss/current/~3/6iaplg7oDS8/ng1109-1157 The US Department of Health and Social Security's Public Health Service (PHS) ruled in 2005 that “Plagiarism is the appropriation of another person's ideas, processes, results, or words without giving appropriate credit.” Despite this, its Office of Research Integrity (ORI) risks giving the wrong impression that plagiarists have enduring conjugal rights to former collaborators' ideas. Data divorce

Nature Genetics 41, 1157 (2009). doi:10.1038/ng1109-1157

The US Department of Health and Social Security's Public Health Service (PHS) ruled in 2005 that “Plagiarism is the appropriation of another person's ideas, processes, results, or words without giving appropriate credit.” Despite this, its Office of Research Integrity (ORI) risks giving the wrong impression that plagiarists have enduring conjugal rights to former collaborators' ideas.

]]> Data divorce doi:10.1038/ng1109-1157 Nature Genetics 41, 1157 (2009) Nature Genetics 10.1038/ng1109-1157 http://dx.doi.org/10.1038/ng1109-1157 41 11 Editorial 1157 1157 http://dx.doi.org/10.1038/ng1109-1157 Richard S. Spielman 1946–2009 http://feeds.nature.com/~r/ng/rss/current/~3/uAtvRy5b3WM/ng1109-1159 Richard S. Spielman 1946–2009

Nature Genetics 41, 1159 (2009). doi:10.1038/ng1109-1159

Author: Jurg Ott

]]> Richard S. Spielman 1946–2009 Jurg Ott doi:10.1038/ng1109-1159 Nature Genetics 41, 1159 (2009) Nature Genetics 10.1038/ng1109-1159 http://dx.doi.org/10.1038/ng1109-1159 41 11 Obituary 1159 1159 http://dx.doi.org/10.1038/ng1109-1159 Genes determining blood cell traits http://feeds.nature.com/~r/ng/rss/current/~3/o1f7JfCOV6s/ng1109-1161 Four genome-wide association studies report associations to a range of clinically relevant hematological traits. The candidate genes identified include many that are known to be important in iron homeostasis and red blood cell maturation. Genes determining blood cell traits

Nature Genetics 41, 1161 (2009). doi:10.1038/ng1109-1161

Author: Nancy C Andrews

Four genome-wide association studies report associations to a range of clinically relevant hematological traits. The candidate genes identified include many that are known to be important in iron homeostasis and red blood cell maturation.

]]> Genes determining blood cell traits Nancy C Andrews doi:10.1038/ng1109-1161 Nature Genetics 41, 1161 (2009) Nature Genetics 10.1038/ng1109-1161 http://dx.doi.org/10.1038/ng1109-1161 41 11 News and Views 1161 1162 http://dx.doi.org/10.1038/ng1109-1161 Not so lost in the genetic crowd http://feeds.nature.com/~r/ng/rss/current/~3/89XQSUHEZ8g/ng1109-1163 Two new studies report improved statistics to predict whether an individual participated in a genome-wide association study based on aggregate allele or genotype frequency information. They demonstrate that it may be possible to release summary statistics for a subset of genetic markers in a study while maintaining individual privacy. Not so lost in the genetic crowd

Nature Genetics 41, 1163 (2009). doi:10.1038/ng1109-1163

Authors: Nicholas J Schork & Vikas Bansal

Two new studies report improved statistics to predict whether an individual participated in a genome-wide association study based on aggregate allele or genotype frequency information. They demonstrate that it may be possible to release summary statistics for a subset of genetic markers in a study while maintaining individual privacy.

]]> Not so lost in the genetic crowd Nicholas J Schork Vikas Bansal doi:10.1038/ng1109-1163 Nature Genetics 41, 1163 (2009) Nature Genetics 10.1038/ng1109-1163 http://dx.doi.org/10.1038/ng1109-1163 41 11 News and Views 1163 1164 http://dx.doi.org/10.1038/ng1109-1163 DNA methylation is a guardian of stem cell self-renewal and multipotency http://feeds.nature.com/~r/ng/rss/current/~3/W5_tpkxybSc/ng1109-1164 Epigenetic marks, such as DNA methylation and histone modifications, undergo dynamic changes during cellular differentiation and development. A new study demonstrates that DNA methylation by Dnmt1 protects essential stem cell properties in both hematopoietic stem cells (HSCs) and leukemia stem cells (LSCs) by silencing differentiation programs that interfere with self-renewal and multipotency. DNA methylation is a guardian of stem cell self-renewal and multipotency

Nature Genetics 41, 1164 (2009). doi:10.1038/ng1109-1164

Authors: Laurraine-Marcelle Gereige & Hanna K A Mikkola

Epigenetic marks, such as DNA methylation and histone modifications, undergo dynamic changes during cellular differentiation and development. A new study demonstrates that DNA methylation by Dnmt1 protects essential stem cell properties in both hematopoietic stem cells (HSCs) and leukemia stem cells (LSCs) by silencing differentiation programs that interfere with self-renewal and multipotency.

]]> DNA methylation is a guardian of stem cell self-renewal and multipotency Laurraine-Marcelle Gereige Hanna K A Mikkola doi:10.1038/ng1109-1164 Nature Genetics 41, 1164 (2009) Nature Genetics 10.1038/ng1109-1164 http://dx.doi.org/10.1038/ng1109-1164 41 11 News and Views 1164 1166 http://dx.doi.org/10.1038/ng1109-1164 Research highlights http://feeds.nature.com/~r/ng/rss/current/~3/mA-ebyd22WU/ng1109-1167 Research highlights

Nature Genetics 41, 1167 (2009). doi:10.1038/ng1109-1167

]]> Research highlights doi:10.1038/ng1109-1167 Nature Genetics 41, 1167 (2009) Nature Genetics 10.1038/ng1109-1167 http://dx.doi.org/10.1038/ng1109-1167 41 11 Research Highlights 1167 1167 http://dx.doi.org/10.1038/ng1109-1167 Genome-wide association study identifies variants in TMPRSS6 associated with hemoglobin levels http://feeds.nature.com/~r/ng/rss/current/~3/CiyGuAB8GNE/ng.462 John Chambers and colleagues report the association of SNPs in TMPRSS6, which encodes a regulator of hepicidin synthesis, to hemoglobin levels. Genome-wide association study identifies variants in TMPRSS6 associated with hemoglobin levels

Nature Genetics 41, 1170 (2009). doi:10.1038/ng.462

Authors: John C Chambers, Weihua Zhang, Yun Li, Joban Sehmi, Mark N Wass, Delilah Zabaneh, Clive Hoggart, Henry Bayele, Mark I McCarthy, Leena Peltonen, Nelson B Freimer, Surjit K Srai, Patrick H Maxwell, Michael J E Sternberg, Aimo Ruokonen, Gonçalo Abecasis, Marjo-Riitta Jarvelin, James Scott, Paul Elliott & Jaspal S Kooner

We carried out a genome-wide association study of hemoglobin levels in 16,001 individuals of European and Indian Asian ancestry. The most closely associated SNP (rs855791) results in nonsynonymous (V736A) change in the serine protease domain of TMPRSS6 and a blood hemoglobin concentration 0.13 (95% CI 0.09–0.17) g/dl lower per copy of allele A (P = 1.6 × 10−13). Our findings suggest that TMPRSS6, a regulator of hepcidin synthesis and iron handling, is crucial in hemoglobin level maintenance.

]]> Genome-wide association study identifies variants in TMPRSS6 associated with hemoglobin levels John C Chambers Weihua Zhang Yun Li Joban Sehmi Mark N Wass Delilah Zabaneh Clive Hoggart Henry Bayele Mark I McCarthy Leena Peltonen Nelson B Freimer Surjit K Srai Patrick H Maxwell Michael J E Sternberg Aimo Ruokonen Gonçalo Abecasis Marjo-Riitta Jarvelin James Scott Paul Elliott Jaspal S Kooner doi:10.1038/ng.462 Nature Genetics 41, 1170 (2009) 2009-10-11 Nature Genetics 2009-10-11 10.1038/ng.462 http://dx.doi.org/10.1038/ng.462 41 11 Brief Communication 1170 1172 http://dx.doi.org/10.1038/ng.462 Common variants in TMPRSS6 are associated with iron status and erythrocyte volume http://feeds.nature.com/~r/ng/rss/current/~3/7MV6xTB1nD0/ng.456 Beben Benyamin and colleagues report a genome-wide association study to iron status, identifying variants in TMPRSS6 associated with serum iron, transferrin saturation and erythrocyte volume. Common variants in TMPRSS6 are associated with iron status and erythrocyte volume

Nature Genetics 41, 1173 (2009). doi:10.1038/ng.456

Authors: Beben Benyamin, Manuel A R Ferreira, Gonneke Willemsen, Scott Gordon, Rita P S Middelberg, Brian P McEvoy, Jouke-Jan Hottenga, Anjali K Henders, Megan J Campbell, Leanne Wallace, Ian H Frazer, Andrew C Heath, Eco J C de Geus, Dale R Nyholt, Peter M Visscher, Brenda W Penninx, Dorret I Boomsma, Nicholas G Martin, Grant W Montgomery & John B Whitfield

We report a genome-wide association study to iron status. We identify an association of SNPs in TPMRSS6 to serum iron (rs855791, combined P = 1.5 × 10−20), transferrin saturation (combined P = 2.2 × 10−23) and erythrocyte mean cell volume (MCV, combined P = 1.1 × 10−10). We also find suggestive evidence of association with blood hemoglobin levels (combined P = 5.3 × 10−7). These findings demonstrate the involvement of TMPRSS6 in control of iron homeostasis and in normal erythropoiesis.

]]> Common variants in TMPRSS6 are associated with iron status and erythrocyte volume Beben Benyamin Manuel A R Ferreira Gonneke Willemsen Scott Gordon Rita P S Middelberg Brian P McEvoy Jouke-Jan Hottenga Anjali K Henders Megan J Campbell Leanne Wallace Ian H Frazer Andrew C Heath Eco J C de Geus Dale R Nyholt Peter M Visscher Brenda W Penninx Dorret I Boomsma Nicholas G Martin Grant W Montgomery John B Whitfield doi:10.1038/ng.456 Nature Genetics 41, 1173 (2009) 2009-10-11 Nature Genetics 2009-10-11 10.1038/ng.456 http://dx.doi.org/10.1038/ng.456 41 11 Brief Communication 1173 1175 http://dx.doi.org/10.1038/ng.456 T (brachyury) gene duplication confers major susceptibility to familial chordoma http://feeds.nature.com/~r/ng/rss/current/~3/cRZ6Xk5fvg8/ng.454 Dilys Parry and colleagues show that duplications of the T gene confer susceptibility to familial chordoma, a cancer of presumed notochordal origin. The T gene product, known as brachyury, is a transcription factor that plays an important role in notochord development. T (brachyury) gene duplication confers major susceptibility to familial chordoma

Nature Genetics 41, 1176 (2009). doi:10.1038/ng.454

Authors: Xiaohong R Yang, David Ng, David A Alcorta, Norbert J Liebsch, Eamonn Sheridan, Sufeng Li, Alisa M Goldstein, Dilys M Parry & Michael J Kelley

Using high-resolution array-CGH, we identified unique duplications of a region on 6q27 in four multiplex families with at least three cases of chordoma, a cancer of presumed notochordal origin. The duplicated region contains only the T (brachyury) gene, which is important in notochord development and is expressed in most sporadic chordomas. Our findings highlight the value of screening for complex genomic rearrangements in searches for cancer-susceptibility genes.

]]> T (brachyury) gene duplication confers major susceptibility to familial chordoma Xiaohong R Yang David Ng David A Alcorta Norbert J Liebsch Eamonn Sheridan Sufeng Li Alisa M Goldstein Dilys M Parry Michael J Kelley doi:10.1038/ng.454 Nature Genetics 41, 1176 (2009) 2009-10-04 Nature Genetics 2009-10-04 10.1038/ng.454 http://dx.doi.org/10.1038/ng.454 41 11 Brief Communication 1176 1178 http://dx.doi.org/10.1038/ng.454 Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy http://feeds.nature.com/~r/ng/rss/current/~3/kRn6W9b0G6g/ng.464 Ingo Kurth and Christian Hübner report the identification of loss-of-function mutations in FAM134B, which encodes a novel cis-Golgi protein, in hereditary sensory and autonomic neuropathy type II. Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy

Nature Genetics 41, 1179 (2009). doi:10.1038/ng.464

Authors: Ingo Kurth, Torsten Pamminger, J Christopher Hennings, Désirée Soehendra, Antje K Huebner, Annelies Rotthier, Jonathan Baets, Jan Senderek, Haluk Topaloglu, Sandra A Farrell, Gudrun Nürnberg, Peter Nürnberg, Peter De Jonghe, Andreas Gal, Christoph Kaether, Vincent Timmerman & Christian A Hübner

Hereditary sensory and autonomic neuropathy type II (HSAN II) leads to severe mutilations because of impaired nociception and autonomic dysfunction. Here we show that loss-of-function mutations in FAM134B, encoding a newly identified cis-Golgi protein, cause HSAN II. Fam134b knockdown results in structural alterations of the cis-Golgi compartment and induces apoptosis in some primary dorsal root ganglion neurons. This implicates FAM134B as critical in long-term survival of nociceptive and autonomic ganglion neurons.

]]> Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy Ingo Kurth Torsten Pamminger J Christopher Hennings Désirée Soehendra Antje K Huebner Annelies Rotthier Jonathan Baets Jan Senderek Haluk Topaloglu Sandra A Farrell Gudrun Nürnberg Peter Nürnberg Peter De Jonghe Andreas Gal Christoph Kaether Vincent Timmerman Christian A Hübner doi:10.1038/ng.464 Nature Genetics 41, 1179 (2009) 2009-10-18 Nature Genetics 2009-10-18 10.1038/ng.464 http://dx.doi.org/10.1038/ng.464 41 11 Brief Communication 1179 1181 http://dx.doi.org/10.1038/ng.464 A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium http://feeds.nature.com/~r/ng/rss/current/~3/fG5xTMl7VQY/ng.467 Nicole Soranzo and colleagues report a meta-analysis of genome-wide association datasets identifying 22 associations to 8 clinically relevant hematological traits. They also identify a long-range haplotype at 12q24 that includes variants associated with platelet counts as well as coronary artery disease and shows evidence of a selective sweep in Europeans. A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium

Nature Genetics 41, 1182 (2009). doi:10.1038/ng.467

Authors: Nicole Soranzo, Tim D Spector, Massimo Mangino, Brigitte Kühnel, Augusto Rendon, Alexander Teumer, Christina Willenborg, Benjamin Wright, Li Chen, Mingyao Li, Perttu Salo, Benjamin F Voight, Philippa Burns, Roman A Laskowski, Yali Xue, Stephan Menzel, David Altshuler, John R Bradley, Suzannah Bumpstead, Mary-Susan Burnett, Joseph Devaney, Angela Döring, Roberto Elosua, Stephen E Epstein, Wendy Erber, Mario Falchi, Stephen F Garner, Mohammed J R Ghori, Alison H Goodall, Rhian Gwilliam, Hakon H Hakonarson, Alistair S Hall, Naomi Hammond, Christian Hengstenberg, Thomas Illig, Inke R König, Christopher W Knouff, Ruth McPherson, Olle Melander, Vincent Mooser, Matthias Nauck, Markku S Nieminen, Christopher J O'Donnell, Leena Peltonen, Simon C Potter, Holger Prokisch, Daniel J Rader, Catherine M Rice, Robert Roberts, Veikko Salomaa, Jennifer Sambrook, Stefan Schreiber, Heribert Schunkert, Stephen M Schwartz, Jovana Serbanovic-Canic, Juha Sinisalo, David S Siscovick, Klaus Stark, Ida Surakka, Jonathan Stephens, John R Thompson, Uwe Völker, Henry Völzke, Nicholas A Watkins, George A Wells, H-Erich Wichmann, David A Van Heel, Chris Tyler-Smith, Swee Lay Thein, Sekar Kathiresan, Markus Perola, Muredach P Reilly, Alexandre F R Stewart, Jeanette Erdmann, Nilesh J Samani, Christa Meisinger, Andreas Greinacher, Panos Deloukas, Willem H Ouwehand & Christian Gieger

]]> A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium Nicole Soranzo Tim D Spector Massimo Mangino Brigitte Kühnel Augusto Rendon Alexander Teumer Christina Willenborg Benjamin Wright Li Chen Mingyao Li Perttu Salo Benjamin F Voight Philippa Burns Roman A Laskowski Yali Xue Stephan Menzel David Altshuler John R Bradley Suzannah Bumpstead Mary-Susan Burnett Joseph Devaney Angela Döring Roberto Elosua Stephen E Epstein Wendy Erber Mario Falchi Stephen F Garner Mohammed J R Ghori Alison H Goodall Rhian Gwilliam Hakon H Hakonarson Alistair S Hall Naomi Hammond Christian Hengstenberg Thomas Illig Inke R König Christopher W Knouff Ruth McPherson Olle Melander Vincent Mooser Matthias Nauck Markku S Nieminen Christopher J O'Donnell Leena Peltonen Simon C Potter Holger Prokisch Daniel J Rader Catherine M Rice Robert Roberts Veikko Salomaa Jennifer Sambrook Stefan Schreiber Heribert Schunkert Stephen M Schwartz Jovana Serbanovic-Canic Juha Sinisalo David S Siscovick Klaus Stark Ida Surakka Jonathan Stephens John R Thompson Uwe Völker Henry Völzke Nicholas A Watkins George A Wells H-Erich Wichmann David A Van Heel Chris Tyler-Smith Swee Lay Thein Sekar Kathiresan Markus Perola Muredach P Reilly Alexandre F R Stewart Jeanette Erdmann Nilesh J Samani Christa Meisinger Andreas Greinacher Panos Deloukas Willem H Ouwehand Christian Gieger doi:10.1038/ng.467 Nature Genetics 41, 1182 (2009) 2009-10-11 Nature Genetics 2009-10-11 10.1038/ng.467 http://dx.doi.org/10.1038/ng.467 41 11 Article 1182 1190 http://dx.doi.org/10.1038/ng.467 Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium http://feeds.nature.com/~r/ng/rss/current/~3/C_NEJ0ZYtcs/ng.466 Santhi Ganesh and colleagues report meta-analyses of genome-wide association studies of six erythrocyte traits within the CHARGE consortium, with replication in cohorts of the HaemGen consortium. They report 23 loci associated with a range of clinically relevant red blood cell traits. Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium

Nature Genetics 41, 1191 (2009). doi:10.1038/ng.466

Authors: Santhi K Ganesh, Neil A Zakai, Frank J A van Rooij, Nicole Soranzo, Albert V Smith, Michael A Nalls, Ming-Huei Chen, Anna Kottgen, Nicole L Glazer, Abbas Dehghan, Brigitte Kuhnel, Thor Aspelund, Qiong Yang, Toshiko Tanaka, Andrew Jaffe, Joshua C M Bis, Germaine C Verwoert, Alexander Teumer, Caroline S Fox, Jack M Guralnik, Georg B Ehret, Kenneth Rice, Janine F Felix, Augusto Rendon, Gudny Eiriksdottir, Daniel Levy, Kushang V Patel, Eric Boerwinkle, Jerome I Rotter, Albert Hofman, Jennifer G Sambrook, Dena G Hernandez, Gang Zheng, Stefania Bandinelli, Andrew B Singleton, Josef Coresh, Thomas Lumley, André G Uitterlinden, Janine M vanGils, Lenore J Launer, L Adrienne Cupples, Ben A Oostra, Jaap-Jan Zwaginga, Willem H Ouwehand, Swee-Lay Thein, Christa Meisinger, Panos Deloukas, Matthias Nauck, Tim D Spector, Christian Gieger, Vilmundur Gudnason, Cornelia M van Duijn, Bruce M Psaty, Luigi Ferrucci, Aravinda Chakravarti, Andreas Greinacher, Christopher J O'Donnell, Jacqueline C M Witteman, Susan Furth, Mary Cushman, Tamara B Harris & Jing-Ping Lin

Measurements of erythrocytes within the blood are important clinical traits and can indicate various hematological disorders. We report here genome-wide association studies (GWAS) for six erythrocyte traits, including hemoglobin concentration (Hb), hematocrit (Hct), mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH), mean corpuscular hemoglobin concentration (MCHC) and red blood cell count (RBC). We performed an initial GWAS in cohorts of the CHARGE Consortium totaling 24,167 individuals of European ancestry and replication in additional independent cohorts of the HaemGen Consortium totaling 9,456 individuals. We identified 23 loci significantly associated with these traits in a meta-analysis of the discovery and replication cohorts (combined P values ranging from 5 × 10−8 to 7 × 10−86). Our findings include loci previously associated with these traits (HBS1L-MYB, HFE, TMPRSS6, TFR2, SPTA1) as well as new associations (EPO, TFRC, SH2B3 and 15 other loci). This study has identified new determinants of erythrocyte traits, offering insight into common variants underlying variation in erythrocyte measures.

]]> Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium Santhi K Ganesh Neil A Zakai Frank J A van Rooij Nicole Soranzo Albert V Smith Michael A Nalls Ming-Huei Chen Anna Kottgen Nicole L Glazer Abbas Dehghan Brigitte Kuhnel Thor Aspelund Qiong Yang Toshiko Tanaka Andrew Jaffe Joshua C M Bis Germaine C Verwoert Alexander Teumer Caroline S Fox Jack M Guralnik Georg B Ehret Kenneth Rice Janine F Felix Augusto Rendon Gudny Eiriksdottir Daniel Levy Kushang V Patel Eric Boerwinkle Jerome I Rotter Albert Hofman Jennifer G Sambrook Dena G Hernandez Gang Zheng Stefania Bandinelli Andrew B Singleton Josef Coresh Thomas Lumley André G Uitterlinden Janine M vanGils Lenore J Launer L Adrienne Cupples Ben A Oostra Jaap-Jan Zwaginga Willem H Ouwehand Swee-Lay Thein Christa Meisinger Panos Deloukas Matthias Nauck Tim D Spector Christian Gieger Vilmundur Gudnason Cornelia M van Duijn Bruce M Psaty Luigi Ferrucci Aravinda Chakravarti Andreas Greinacher Christopher J O'Donnell Jacqueline C M Witteman Susan Furth Mary Cushman Tamara B Harris Jing-Ping Lin doi:10.1038/ng.466 Nature Genetics 41, 1191 (2009) 2009-10-11 Nature Genetics 2009-10-11 10.1038/ng.466 http://dx.doi.org/10.1038/ng.466 41 11 Article 1191 1198 http://dx.doi.org/10.1038/ng.466 Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies http://feeds.nature.com/~r/ng/rss/current/~3/sZm5pgm2DPM/ng.446 Fernando Rivadeneira and colleagues report findings from a large-scale meta-analysis of genome-wide association studies for bone mineral density. The loci identified in this study map to genes in signaling pathways relevant to bone metabolism and highlight the complex genetic architecture underlying osteoporosis. Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies

Nature Genetics 41, 1199 (2009). doi:10.1038/ng.446

Authors:

]]> Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies doi:10.1038/ng.446 Nature Genetics 41, 1199 (2009) 2009-10-04 Nature Genetics 2009-10-04 10.1038/ng.446 http://dx.doi.org/10.1038/ng.446 41 11 Article 1199 1206 http://dx.doi.org/10.1038/ng.446 DNA methylation protects hematopoietic stem cell multipotency from myeloerythroid restriction http://feeds.nature.com/~r/ng/rss/current/~3/dMLC43C9JeE/ng.463 Frank Rosenbauer and colleagues show that alternative functional programs of hematopoietic stem cells are governed by gradual differences in the cellular DNA methylation level. DNA methylation protects hematopoietic stem cell multipotency from myeloerythroid restriction

Nature Genetics 41, 1207 (2009). doi:10.1038/ng.463

Authors: Ann-Marie Bröske, Lena Vockentanz, Shabnam Kharazi, Matthew R Huska, Elena Mancini, Marina Scheller, Christiane Kuhl, Andreas Enns, Marco Prinz, Rudolf Jaenisch, Claus Nerlov, Achim Leutz, Miguel A Andrade-Navarro, Sten Eirik W Jacobsen & Frank Rosenbauer

]]> DNA methylation protects hematopoietic stem cell multipotency from myeloerythroid restriction Ann-Marie Bröske Lena Vockentanz Shabnam Kharazi Matthew R Huska Elena Mancini Marina Scheller Christiane Kuhl Andreas Enns Marco Prinz Rudolf Jaenisch Claus Nerlov Achim Leutz Miguel A Andrade-Navarro Sten Eirik W Jacobsen Frank Rosenbauer doi:10.1038/ng.463 Nature Genetics 41, 1207 (2009) 2009-10-04 Nature Genetics 2009-10-04 10.1038/ng.463 http://dx.doi.org/10.1038/ng.463 41 11 Article 1207 1215 http://dx.doi.org/10.1038/ng.463 Global patterns of cis variation in human cells revealed by high-density allelic expression analysis http://feeds.nature.com/~r/ng/rss/current/~3/_wjp58NqyNY/ng.473 Tomi Pastinen and colleagues report a genome-wide analysis of allelic expression variation in lymphoblastoid cell lines from HapMap individuals. Global patterns of cis variation in human cells revealed by high-density allelic expression analysis

Nature Genetics 41, 1216 (2009). doi:10.1038/ng.473

Authors: Bing Ge, Dmitry K Pokholok, Tony Kwan, Elin Grundberg, Lisanne Morcos, Dominique J Verlaan, Jennie Le, Vonda Koka, Kevin C L Lam, Vincent Gagné, Joana Dias, Rose Hoberman, Alexandre Montpetit, Marie-Michele Joly, Edward J Harvey, Daniel Sinnett, Patrick Beaulieu, Robert Hamon, Alexandru Graziani, Ken Dewar, Eef Harmsen, Jacek Majewski, Harald H H Göring, Anna K Naumova, Mathieu Blanchette, Kevin L Gunderson & Tomi Pastinen

]]> Global patterns of cis variation in human cells revealed by high-density allelic expression analysis Bing Ge Dmitry K Pokholok Tony Kwan Elin Grundberg Lisanne Morcos Dominique J Verlaan Jennie Le Vonda Koka Kevin C L Lam Vincent Gagné Joana Dias Rose Hoberman Alexandre Montpetit Marie-Michele Joly Edward J Harvey Daniel Sinnett Patrick Beaulieu Robert Hamon Alexandru Graziani Ken Dewar Eef Harmsen Jacek Majewski Harald H H Göring Anna K Naumova Mathieu Blanchette Kevin L Gunderson Tomi Pastinen doi:10.1038/ng.473 Nature Genetics 41, 1216 (2009) 2009-10-18 Nature Genetics 2009-10-18 10.1038/ng.473 http://dx.doi.org/10.1038/ng.473 41 11 Article 1216 1222 http://dx.doi.org/10.1038/ng.473 Microduplications of 16p11.2 are associated with schizophrenia http://feeds.nature.com/~r/ng/rss/current/~3/KknSGlMa2aU/ng.474 Jonathan Sebat and colleagues report the association of microduplication on chromosome 16p11.2 with schizophrenia, while the reciprocal microdeletion was associated with autism and developmental disorders. Microduplications of 16p11.2 are associated with schizophrenia

Nature Genetics 41, 1223 (2009). doi:10.1038/ng.474

Authors: Shane E McCarthy, Vladimir Makarov, George Kirov, Anjene M Addington, Jon McClellan, Seungtai Yoon, Diana O Perkins, Diane E Dickel, Mary Kusenda, Olga Krastoshevsky, Verena Krause, Ravinesh A Kumar, Detelina Grozeva, Dheeraj Malhotra, Tom Walsh, Elaine H Zackai, Paige Kaplan, Jaya Ganesh, Ian D Krantz, Nancy B Spinner, Patricia Roccanova, Abhishek Bhandari, Kevin Pavon, B Lakshmi, Anthony Leotta, Jude Kendall, Yoon-ha Lee, Vladimir Vacic, Sydney Gary, Lilia M Iakoucheva, Timothy J Crow, Susan L Christian, Jeffrey A Lieberman, T Scott Stroup, Terho Lehtimäki, Kaija Puura, Chad Haldeman-Englert, Justin Pearl, Meredith Goodell, Virginia L Willour, Pamela DeRosse, Jo Steele, Layla Kassem, Jessica Wolff, Nisha Chitkara, Francis J McMahon, Anil K Malhotra, James B Potash, Thomas G Schulze, Markus M Nöthen, Sven Cichon, Marcella Rietschel, Ellen Leibenluft, Vlad Kustanovich, Clara M Lajonchere, James S Sutcliffe, David Skuse, Michael Gill, Louise Gallagher, Nancy R Mendell, Nick Craddock, Michael J Owen, Michael C O'Donovan, Tamim H Shaikh, Ezra Susser, Lynn E DeLisi, Patrick F Sullivan, Curtis K Deutsch, Judith Rapoport, Deborah L Levy, Mary-Claire King & Jonathan Sebat

]]> Microduplications of 16p11.2 are associated with schizophrenia Shane E McCarthy Vladimir Makarov George Kirov Anjene M Addington Jon McClellan Seungtai Yoon Diana O Perkins Diane E Dickel Mary Kusenda Olga Krastoshevsky Verena Krause Ravinesh A Kumar Detelina Grozeva Dheeraj Malhotra Tom Walsh Elaine H Zackai Paige Kaplan Jaya Ganesh Ian D Krantz Nancy B Spinner Patricia Roccanova Abhishek Bhandari Kevin Pavon B Lakshmi Anthony Leotta Jude Kendall Yoon-ha Lee Vladimir Vacic Sydney Gary Lilia M Iakoucheva Timothy J Crow Susan L Christian Jeffrey A Lieberman T Scott Stroup Terho Lehtimäki Kaija Puura Chad Haldeman-Englert Justin Pearl Meredith Goodell Virginia L Willour Pamela DeRosse Jo Steele Layla Kassem Jessica Wolff Nisha Chitkara Francis J McMahon Anil K Malhotra James B Potash Thomas G Schulze Markus M Nöthen Sven Cichon Marcella Rietschel Ellen Leibenluft Vlad Kustanovich Clara M Lajonchere James S Sutcliffe David Skuse Michael Gill Louise Gallagher Nancy R Mendell Nick Craddock Michael J Owen Michael C O'Donovan Tamim H Shaikh Ezra Susser Lynn E DeLisi Patrick F Sullivan Curtis K Deutsch Judith Rapoport Deborah L Levy Mary-Claire King Jonathan Sebat doi:10.1038/ng.474 Nature Genetics 41, 1223 (2009) 2009-10-25 Nature Genetics 2009-10-25 10.1038/ng.474 http://dx.doi.org/10.1038/ng.474 41 11 Letter 1223 1227 http://dx.doi.org/10.1038/ng.474 A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus http://feeds.nature.com/~r/ng/rss/current/~3/A0XGIjOz7Fo/ng.468 Robert Graham and colleagues report results of a large-scale replication study for systemic lupus erythematosus (SLE) in individuals of European ancestry. Their findings expand the number of confirmed SLE susceptibility loci and implicate several key immunologic pathways in SLE pathogenesis. A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus

Nature Genetics 41, 1228 (2009). doi:10.1038/ng.468

Authors: Vesela Gateva, Johanna K Sandling, Geoff Hom, Kimberly E Taylor, Sharon A Chung, Xin Sun, Ward Ortmann, Roman Kosoy, Ricardo C Ferreira, Gunnel Nordmark, Iva Gunnarsson, Elisabet Svenungsson, Leonid Padyukov, Gunnar Sturfelt, Andreas Jönsen, Anders A Bengtsson, Solbritt Rantapää-Dahlqvist, Emily C Baechler, Elizabeth E Brown, Graciela S Alarcón, Jeffrey C Edberg, Rosalind Ramsey-Goldman, Gerald McGwin, John D Reveille, Luis M Vilá, Robert P Kimberly, Susan Manzi, Michelle A Petri, Annette Lee, Peter K Gregersen, Michael F Seldin, Lars Rönnblom, Lindsey A Criswell, Ann-Christine Syvänen, Timothy W Behrens & Robert R Graham

]]> A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus Vesela Gateva Johanna K Sandling Geoff Hom Kimberly E Taylor Sharon A Chung Xin Sun Ward Ortmann Roman Kosoy Ricardo C Ferreira Gunnel Nordmark Iva Gunnarsson Elisabet Svenungsson Leonid Padyukov Gunnar Sturfelt Andreas Jönsen Anders A Bengtsson Solbritt Rantapää-Dahlqvist Emily C Baechler Elizabeth E Brown Graciela S Alarcón Jeffrey C Edberg Rosalind Ramsey-Goldman Gerald McGwin John D Reveille Luis M Vilá Robert P Kimberly Susan Manzi Michelle A Petri Annette Lee Peter K Gregersen Michael F Seldin Lars Rönnblom Lindsey A Criswell Ann-Christine Syvänen Timothy W Behrens Robert R Graham doi:10.1038/ng.468 Nature Genetics 41, 1228 (2009) 2009-10-18 Nature Genetics 2009-10-18 10.1038/ng.468 http://dx.doi.org/10.1038/ng.468 41 11 Letter 1228 1233 http://dx.doi.org/10.1038/ng.468 Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci for systemic lupus erythematosus http://feeds.nature.com/~r/ng/rss/current/~3/jwyFjO3aGzg/ng.472 Xuejun Zhang and colleagues report results of a genome-wide association study of systemic lupus erythematosus (SLE) in a Chinese Han population. Their work identifies nine new SLE susceptibility loci and reveals overlap in the spectrum of risk alleles shared between Chinese Han and European populations. Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci for systemic lupus erythematosus

Nature Genetics 41, 1234 (2009). doi:10.1038/ng.472

Authors: Jian-Wen Han, Hou-Feng Zheng, Yong Cui, Liang-Dan Sun, Dong-Qing Ye, Zhi Hu, Jin-Hua Xu, Zhi-Ming Cai, Wei Huang, Guo-Ping Zhao, Hong-Fu Xie, Hong Fang, Qian-Jin Lu, Jian-Hua Xu, Xiang-Pei Li, Yun-Feng Pan, Dan-Qi Deng, Fan-Qin Zeng, Zhi-Zhong Ye, Xiao-Yan Zhang, Qing-Wen Wang, Fei Hao, Li Ma, Xian-Bo Zuo, Fu-Sheng Zhou, Wen-Hui Du, Yi-Lin Cheng, Jian-Qiang Yang, Song-Ke Shen, Jian Li, Yu-Jun Sheng, Xiao-Xia Zuo, Wei-Fang Zhu, Fei Gao, Pei-Lian Zhang, Qing Guo, Bo Li, Min Gao, Feng-Li Xiao, Cheng Quan, Chi Zhang, Zheng Zhang, Kun-Ju Zhu, Yang Li, Da-Yan Hu, Wen-Sheng Lu, Jian-Lin Huang, Sheng-Xiu Liu, Hui Li, Yun-Qing Ren, Zai-Xing Wang, Chun-Jun Yang, Pei-Guang Wang, Wen-Ming Zhou, Yong-Mei Lv, An-Ping Zhang, Sheng-Quan Zhang, Da Lin, Yi Li, Hui Qi Low, Min Shen, Zhi-Fang Zhai, Ying Wang, Feng-Yu Zhang, Sen Yang, Jian-Jun Liu & Xue-Jun Zhang

]]> Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci for systemic lupus erythematosus Jian-Wen Han Hou-Feng Zheng Yong Cui Liang-Dan Sun Dong-Qing Ye Zhi Hu Jin-Hua Xu Zhi-Ming Cai Wei Huang Guo-Ping Zhao Hong-Fu Xie Hong Fang Qian-Jin Lu Jian-Hua Xu Xiang-Pei Li Yun-Feng Pan Dan-Qi Deng Fan-Qin Zeng Zhi-Zhong Ye Xiao-Yan Zhang Qing-Wen Wang Fei Hao Li Ma Xian-Bo Zuo Fu-Sheng Zhou Wen-Hui Du Yi-Lin Cheng Jian-Qiang Yang Song-Ke Shen Jian Li Yu-Jun Sheng Xiao-Xia Zuo Wei-Fang Zhu Fei Gao Pei-Lian Zhang Qing Guo Bo Li Min Gao Feng-Li Xiao Cheng Quan Chi Zhang Zheng Zhang Kun-Ju Zhu Yang Li Da-Yan Hu Wen-Sheng Lu Jian-Lin Huang Sheng-Xiu Liu Hui Li Yun-Qing Ren Zai-Xing Wang Chun-Jun Yang Pei-Guang Wang Wen-Ming Zhou Yong-Mei Lv An-Ping Zhang Sheng-Quan Zhang Da Lin Yi Li Hui Qi Low Min Shen Zhi-Fang Zhai Ying Wang Feng-Yu Zhang Sen Yang Jian-Jun Liu Xue-Jun Zhang doi:10.1038/ng.472 Nature Genetics 41, 1234 (2009) 2009-10-18 Nature Genetics 2009-10-18 10.1038/ng.472 http://dx.doi.org/10.1038/ng.472 41 11 Letter 1234 1237 http://dx.doi.org/10.1038/ng.472 SOX2 is an amplified lineage-survival oncogene in lung and esophageal squamous cell carcinomas http://feeds.nature.com/~r/ng/rss/current/~3/u7qeIJy4WRY/ng.465 Matthew Meyerson and colleagues report that SOX2, which encodes a transcription factor necessary for normal esophageal development, is an amplified lineage survival oncogene in lung and esophageal squamous cell carcinomas. SOX2 is an amplified lineage-survival oncogene in lung and esophageal squamous cell carcinomas

Nature Genetics 41, 1238 (2009). doi:10.1038/ng.465

Authors: Adam J Bass, Hideo Watanabe, Craig H Mermel, Soyoung Yu, Sven Perner, Roel G Verhaak, So Young Kim, Leslie Wardwell, Pablo Tamayo, Irit Gat-Viks, Alex H Ramos, Michele S Woo, Barbara A Weir, Gad Getz, Rameen Beroukhim, Michael O'Kelly, Amit Dutt, Orit Rozenblatt-Rosen, Piotr Dziunycz, Justin Komisarof, Lucian R Chirieac, Christopher J LaFargue, Veit Scheble, Theresia Wilbertz, Changqing Ma, Shilpa Rao, Hiroshi Nakagawa, Douglas B Stairs, Lin Lin, Thomas J Giordano, Patrick Wagner, John D Minna, Adi F Gazdar, Chang Qi Zhu, Marcia S Brose, Ivan Cecconello, Ulysses Ribeiro Jr, Suely K Marie, Olav Dahl, Ramesh A Shivdasani, Ming-Sound Tsao, Mark A Rubin, Kwok K Wong, Aviv Regev, William C Hahn, David G Beer, Anil K Rustgi & Matthew Meyerson

]]> SOX2 is an amplified lineage-survival oncogene in lung and esophageal squamous cell carcinomas Adam J Bass Hideo Watanabe Craig H Mermel Soyoung Yu Sven Perner Roel G Verhaak So Young Kim Leslie Wardwell Pablo Tamayo Irit Gat-Viks Alex H Ramos Michele S Woo Barbara A Weir Gad Getz Rameen Beroukhim Michael O'Kelly Amit Dutt Orit Rozenblatt-Rosen Piotr Dziunycz Justin Komisarof Lucian R Chirieac Christopher J LaFargue Veit Scheble Theresia Wilbertz Changqing Ma Shilpa Rao Hiroshi Nakagawa Douglas B Stairs Lin Lin Thomas J Giordano Patrick Wagner John D Minna Adi F Gazdar Chang Qi Zhu Marcia S Brose Ivan Cecconello Ulysses Ribeiro Jr Suely K Marie Olav Dahl Ramesh A Shivdasani Ming-Sound Tsao Mark A Rubin Kwok K Wong Aviv Regev William C Hahn David G Beer Anil K Rustgi Matthew Meyerson doi:10.1038/ng.465 Nature Genetics 41, 1238 (2009) 2009-10-04 Nature Genetics 2009-10-04 10.1038/ng.465 http://dx.doi.org/10.1038/ng.465 41 11 Letter 1238 1242 http://dx.doi.org/10.1038/ng.465 Rearrangement of CRLF2 in B-progenitor– and Down syndrome–associated acute lymphoblastic leukemia http://feeds.nature.com/~r/ng/rss/current/~3/CUZvmFyEGlo/ng.469 Charles Mullighan and colleagues report a recurrent rearrangement of CRLF2 in B-progenitor and Down syndrome-associated acute lymphoblastic leukemia. Their genetic and functional evidence indicates that CRLF2 cooperates with activated JAK2 to promote leukemogenesis. Rearrangement of CRLF2 in B-progenitor– and Down syndrome–associated acute lymphoblastic leukemia

Nature Genetics 41, 1243 (2009). doi:10.1038/ng.469

Authors: Charles G Mullighan, J Racquel Collins-Underwood, Letha A A Phillips, Michael G Loudin, Wei Liu, Jinghui Zhang, Jing Ma, Elaine Coustan-Smith, Richard C Harvey, Cheryl L Willman, Fady M Mikhail, Julia Meyer, Andrew J Carroll, Richard T Williams, Jinjun Cheng, Nyla A Heerema, Giuseppe Basso, Andrea Pession, Ching-Hon Pui, Susana C Raimondi, Stephen P Hunger, James R Downing, William L Carroll & Karen R Rabin

]]> Rearrangement of CRLF2 in B-progenitor– and Down syndrome–associated acute lymphoblastic leukemia Charles G Mullighan J Racquel Collins-Underwood Letha A A Phillips Michael G Loudin Wei Liu Jinghui Zhang Jing Ma Elaine Coustan-Smith Richard C Harvey Cheryl L Willman Fady M Mikhail Julia Meyer Andrew J Carroll Richard T Williams Jinjun Cheng Nyla A Heerema Giuseppe Basso Andrea Pession Ching-Hon Pui Susana C Raimondi Stephen P Hunger James R Downing William L Carroll Karen R Rabin doi:10.1038/ng.469 Nature Genetics 41, 1243 (2009) 2009-10-18 Nature Genetics 2009-10-18 10.1038/ng.469 http://dx.doi.org/10.1038/ng.469 41 11 Letter 1243 1246 http://dx.doi.org/10.1038/ng.469 Activating mutations in FGFR3 and HRAS reveal a shared genetic origin for congenital disorders and testicular tumors http://feeds.nature.com/~r/ng/rss/current/~3/cgZ273e0GH4/ng.470 Andrew Wilkie and colleagues report that activating paternal-effect mutations in FGFR3 and HRAS promote clonal expansion in the testis, leading to spermatocytic seminomas. The same mutation in FGFR3 leads to the lethal disorder thanatophoric dysplasia, revealing a shared genetic mechanism for congenital disorders and testicular tumors. Activating mutations in FGFR3 and HRAS reveal a shared genetic origin for congenital disorders and testicular tumors

Nature Genetics 41, 1247 (2009). doi:10.1038/ng.470

Authors: Anne Goriely, Ruth M S Hansen, Indira B Taylor, Inge A Olesen, Grete Krag Jacobsen, Simon J McGowan, Susanne P Pfeifer, Gilean A T McVean, Ewa Rajpert-De Meyts & Andrew O M Wilkie

]]> Activating mutations in FGFR3 and HRAS reveal a shared genetic origin for congenital disorders and testicular tumors Anne Goriely Ruth M S Hansen Indira B Taylor Inge A Olesen Grete Krag Jacobsen Simon J McGowan Susanne P Pfeifer Gilean A T McVean Ewa Rajpert-De Meyts Andrew O M Wilkie doi:10.1038/ng.470 Nature Genetics 41, 1247 (2009) 2009-10-25 Nature Genetics 2009-10-25 10.1038/ng.470 http://dx.doi.org/10.1038/ng.470 41 11 Letter 1247 1252 http://dx.doi.org/10.1038/ng.470 A new statistic and its power to infer membership in a genome-wide association study using genotype frequencies http://feeds.nature.com/~r/ng/rss/current/~3/osQwOGLpIEg/ng.455 Kevin Jacobs and colleagues report a new test statistic for detection of membership of an individual within a genome-wide association study, based on reporting of study genotype frequencies. A new statistic and its power to infer membership in a genome-wide association study using genotype frequencies

Nature Genetics 41, 1253 (2009). doi:10.1038/ng.455

Authors: Kevin B Jacobs, Meredith Yeager, Sholom Wacholder, David Craig, Peter Kraft, David J Hunter, Justin Paschal, Teri A Manolio, Margaret Tucker, Robert N Hoover, Gilles D Thomas, Stephen J Chanock & Nilanjan Chatterjee

]]> A new statistic and its power to infer membership in a genome-wide association study using genotype frequencies Kevin B Jacobs Meredith Yeager Sholom Wacholder David Craig Peter Kraft David J Hunter Justin Paschal Teri A Manolio Margaret Tucker Robert N Hoover Gilles D Thomas Stephen J Chanock Nilanjan Chatterjee doi:10.1038/ng.455 Nature Genetics 41, 1253 (2009) 2009-10-04 Nature Genetics 2009-10-04 10.1038/ng.455 http://dx.doi.org/10.1038/ng.455 41 11 Letter 1253 1257 http://dx.doi.org/10.1038/ng.455