America competes—for now - p1039

doi:10.1038/ng0907-1039

Abstract - | Full Text - America competes—for now | PDF (92 KB) - America competes—for now

Anne McLaren 1927–2007 - p1041

Paul Burgoyne

doi:10.1038/ng0907-1041

Full Text - Anne McLaren 1927–2007 | PDF (91 KB) - Anne McLaren 1927–2007

Patchwork women - p1043

Carolyn Brown reviews Females are Mosaics: X Inactivation and Sex Differences in Disease by Barbara R. Migeon

doi:10.1038/ng0907-1043

Full Text - Patchwork women | PDF (93 KB) - Patchwork women

New models of collaboration in genome-wide association studies: the Genetic Association Information Network - pp1045 - 1051

The GAIN Collaborative Research Group

doi:10.1038/ng2127

Abstract - | Full Text - New models of collaboration in genome-wide association studies: the Genetic Association Information Network | PDF (283 KB) - New models of collaboration in genome-wide association studies: the Genetic Association Information Network | Supplementary information

IL-7R and multiple sclerosis risk - pp1053 - 1054

John B Harley

doi:10.1038/ng0907-1053

Abstract - | Full Text - IL-7R and multiple sclerosis risk | PDF (157 KB) - IL-7R and multiple sclerosis risk

See also: Article by Gregory et al. | Letter by Lundmark et al.

A haplotype map for the laboratory mouse - pp1054 - 1056

Richard Mott

doi:10.1038/ng0907-1054

Abstract - | Full Text - A haplotype map for the laboratory mouse | PDF (184 KB) - A haplotype map for the laboratory mouse

See also: Article by Yang et al.

An Arabidopsis haplotype map takes root - pp1056 - 1057

Edward Buckler & Michael Gore

doi:10.1038/ng0907-1056

Abstract - | Full Text - An Arabidopsis haplotype map takes root | PDF (105 KB) - An Arabidopsis haplotype map takes root

See also: Letter by Kim et al.

Cancer drugs to treat birth defects - pp1057 - 1059

Andrew O M Wilkie

doi:10.1038/ng0907-1057

Abstract - | Full Text - Cancer drugs to treat birth defects | PDF (547 KB) - Cancer drugs to treat birth defects

See also: Letter by Shukla et al.

Touching base - p1061

doi:10.1038/ng0907-1061

Full Text - Touching base | PDF (138 KB) - Touching base

Research Highlights - p1063

doi:10.1038/ng0907-1063

Full Text - Research Highlights | PDF (66 KB) - Research Highlights

Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 are associated with systemic lupus erythematosus - pp1065 - 1067

Min Ae Lee-Kirsch, Maolian Gong, Dipanjan Chowdhury, Lydia Senenko, Kerstin Engel, Young-Ae Lee, Udesh de Silva, Suzanna L Bailey, Torsten Witte, Timothy J Vyse, Juha Kere, Christiane Pfeiffer, Scott Harvey, Andrew Wong, Sari Koskenmies, Oliver Hummel, Klaus Rohde, Reinhold E Schmidt, Anna F Dominiczak, Manfred Gahr, Thomas Hollis, Fred W Perrino, Judy Lieberman & Norbert Hübner

doi:10.1038/ng2091

Abstract - | Full Text - Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 are associated with systemic lupus erythematosus | PDF (263 KB) - Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 are associated with systemic lupus erythematosus | Supplementary information

C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy - pp1068 - 1070

Anna Richards, Arn M J M van den Maagdenberg, Joanna C Jen, David Kavanagh, Paula Bertram, Dirk Spitzer, M Kathryn Liszewski, Maria-Louise Barilla-LaBarca, Gisela M Terwindt, Yumi Kasai, Mike McLellan, Mark Gilbert Grand, Kaate R J Vanmolkot, Boukje de Vries, Jijun Wan, Michael J Kane, Hafsa Mamsa, Ruth Schäfer, Anine H Stam, Joost Haan, Paulus T V M de Jong, Caroline W Storimans, Mary J van Schooneveld, Jendo A Oosterhuis, Andreas Gschwendter, Martin Dichgans, Katya E Kotschet, Suzanne Hodgkinson, Todd A Hardy, Martin B Delatycki, Rula A Hajj-Ali, Parul H Kothari, Stanley F Nelson, Rune R Frants, Robert W Baloh, Michel D Ferrari & John P Atkinson

doi:10.1038/ng2082

Abstract - | Full Text - C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy | PDF (230 KB) - C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy | Supplementary information

Discovery of a previously unrecognized microdeletion syndrome of 16p11.2–p12.2 - pp1071 - 1073

Blake C Ballif, Sara A Hornor, Elizabeth Jenkins, Suneeta Madan-Khetarpal, Urvashi Surti, Kelly E Jackson, Alexander Asamoah, Pamela L Brock, Gordon C Gowans, Robert L Conway, John M Graham, Jr, Livija Medne, Elaine H Zackai, Tamim H Shaikh, Joel Geoghegan, Rebecca R Selzer, Peggy S Eis, Bassem A Bejjani & Lisa G Shaffer

doi:10.1038/ng2107

Abstract - | Full Text - Discovery of a previously unrecognized microdeletion syndrome of 16p11.2–p12.2 | PDF (268 KB) - Discovery of a previously unrecognized microdeletion syndrome of 16p11.2–p12.2 | Supplementary information

Large-scale genetic fine mapping and genotype-phenotype associations implicate polymorphism in the IL2RA region in type 1 diabetes - pp1074 - 1082

Christopher E Lowe, Jason D Cooper, Todd Brusko, Neil M Walker, Deborah J Smyth, Rebecca Bailey, Kirsi Bourget, Vincent Plagnol, Sarah Field, Mark Atkinson, David G Clayton, Linda S Wicker & John A Todd

doi:10.1038/ng2102

Abstract - | Full Text - Large-scale genetic fine mapping and genotype-phenotype associations implicate polymorphism in the IL2RA region in type 1 diabetes | PDF (392 KB) - Large-scale genetic fine mapping and genotype-phenotype associations implicate polymorphism in the IL2RA region in type 1 diabetes | Supplementary information

Interleukin 7 receptor chain ( IL7R ) shows allelic and functional association with multiple sclerosis - pp1083 - 1091

Simon G Gregory, Silke Schmidt, Puneet Seth, Jorge R Oksenberg, John Hart, Angela Prokop, Stacy J Caillier, Maria Ban, An Goris, Lisa F Barcellos, Robin Lincoln, Jacob L McCauley, Stephen J Sawcer, D A S Compston, Benedicte Dubois, Stephen L Hauser, Mariano A Garcia-Blanco, Margaret A Pericak-Vance & for the Multiple Sclerosis Genetics Group

doi:10.1038/ng2103

Abstract - | Full Text - Interleukin 7 receptor chain ( IL7R ) shows allelic and functional association with multiple sclerosis | PDF (320 KB) - Interleukin 7 receptor chain ( IL7R ) shows allelic and functional association with multiple sclerosis | Supplementary information

See also: News and Views by Harley

Unusual selection on the KIR3DL1/S1 natural killer cell receptor in Africans - pp1092 - 1099

Paul J Norman, Laurent Abi-Rached, Ketevan Gendzekhadze, Daniel Korbel, Michael Gleimer, Don Rowley, Dan Bruno, Christine V F Carrington, Dasdayanee Chandanayingyong, Yih-Hsin Chang, Catalina Crespí, Güher Saruhan-Direskeneli, Patricia A Fraser, Kamran Hameed, Giorgi Kamkamidze, Kwadwo A Koram, Zulay Layrisse, Nuria Matamoros, Joan Milà, Myoung Hee Park, Ramasamy M Pitchappan, D Dan Ramdath, Ming-Yuh Shiau, Henry A F Stephens, Siske Struik, David H Verity, Robert W Vaughan, Dolly Tyan, Ronald W Davis, Eleanor M Riley, Mostafa Ronaghi & Peter Parham

doi:10.1038/ng2111

Abstract - | Full Text - Unusual selection on the KIR3DL1/S1 natural killer cell receptor in Africans | PDF (373 KB) - Unusual selection on the KIR3DL1/S1 natural killer cell receptor in Africans | Supplementary information

On the subspecific origin of the laboratory mouse - pp1100 - 1107

Hyuna Yang, Timothy A Bell, Gary A Churchill & Fernando Pardo-Manuel de Villena

doi:10.1038/ng2087

Abstract - | Full Text - On the subspecific origin of the laboratory mouse | PDF (629 KB) - On the subspecific origin of the laboratory mouse | Supplementary information

See also: News and Views by Mott

Variation in interleukin 7 receptor chain (IL7R) influences risk of multiple sclerosis - pp1108 - 1113

Frida Lundmark, Kristina Duvefelt, Ellen Iacobaeus, Ingrid Kockum, Erik Wallström, Mohsen Khademi, Annette Oturai, Lars P Ryder, Janna Saarela, Hanne F Harbo, Elisabeth G Celius, Hugh Salter, Tomas Olsson & Jan Hillert

doi:10.1038/ng2106

First paragraph - | Full Text - Variation in interleukin 7 receptor chain (IL7R) influences risk of multiple sclerosis | PDF (187 KB) - Variation in interleukin 7 receptor chain (IL7R) influences risk of multiple sclerosis | Supplementary information

See also: News and Views by Harley

Global diversity and evidence for coevolution of KIR and HLA - pp1114 - 1119

Richard M Single, Maureen P Martin, Xiaojiang Gao, Diogo Meyer, Meredith Yeager, Judith R Kidd, Kenneth K Kidd & Mary Carrington

doi:10.1038/ng2077

First paragraph - | Full Text - Global diversity and evidence for coevolution of KIR and HLA | PDF (485 KB) - Global diversity and evidence for coevolution of KIR and HLA | Supplementary information

Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1–like phenotype - pp1120 - 1126

Hilde Brems, Magdalena Chmara, Mourad Sahbatou, Ellen Denayer, Koji Taniguchi, Reiko Kato, Riet Somers, Ludwine Messiaen, Sofie De Schepper, Jean-Pierre Fryns, Jan Cools, Peter Marynen, Gilles Thomas, Akihiko Yoshimura & Eric Legius

doi:10.1038/ng2113

First paragraph - | Full Text - Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1–like phenotype | PDF (314 KB) - Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1–like phenotype | Supplementary information

Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation - pp1127 - 1133

Patrick S Tarpey, F Lucy Raymond, Lam S Nguyen, Jayson Rodriguez, Anna Hackett, Lucianne Vandeleur, Raffaella Smith, Cheryl Shoubridge, Sarah Edkins, Claire Stevens, Sarah O'Meara, Calli Tofts, Syd Barthorpe, Gemma Buck, Jennifer Cole, Kelly Halliday, Katy Hills, David Jones, Tatiana Mironenko, Janet Perry, Jennifer Varian, Sofie West, Sara Widaa, John Teague, Ed Dicks, Adam Butler, Andrew Menzies, David Richardson, Andrew Jenkinson, Rebecca Shepherd, Keiran Raine, Jenny Moon, Yin Luo, Josep Parnau, Shambhu S Bhat, Alison Gardner, Mark Corbett, Doug Brooks, Paul Thomas, Emma Parkinson-Lawrence, Mary E Porteous, John P Warner, Tracy Sanderson, Pauline Pearson, Richard J Simensen, Cindy Skinner, George Hoganson, Duane Superneau, Richard Wooster, Martin Bobrow, Gillian Turner, Roger E Stevenson, Charles E Schwartz, P Andrew Futreal, Anand K Srivastava, Michael R Stratton & Jozef Gécz

doi:10.1038/ng2100

First paragraph - | Full Text - Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation | PDF (375 KB) - Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation | Supplementary information

Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy - pp1134 - 1139

Anne-Sophie Nicot, Anne Toussaint, Valérie Tosch, Christine Kretz, Carina Wallgren-Pettersson, Erik Iwarsson, Helen Kingston, Jean-Marie Garnier, Valérie Biancalana, Anders Oldfors, Jean-Louis Mandel & Jocelyn Laporte

doi:10.1038/ng2086

First paragraph - | Full Text - Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy | PDF (561 KB) - Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy | Supplementary information

Promoter regions of many neural- and nutrition-related genes have experienced positive selection during human evolution - pp1140 - 1144

Ralph Haygood, Olivier Fedrigo, Brian Hanson, Ken-Daigoro Yokoyama & Gregory A Wray

doi:10.1038/ng2104

First paragraph - | Full Text - Promoter regions of many neural- and nutrition-related genes have experienced positive selection during human evolution | PDF (225 KB) - Promoter regions of many neural- and nutrition-related genes have experienced positive selection during human evolution | Supplementary information

RNA interference and inhibition of MEK-ERK signaling prevent abnormal skeletal phenotypes in a mouse model of craniosynostosis - pp1145 - 1150

Vivek Shukla, Xavier Coumoul, Rui-Hong Wang, Hyun-Seok Kim & Chu-Xia Deng

doi:10.1038/ng2096

First paragraph - | Full Text - RNA interference and inhibition of MEK-ERK signaling prevent abnormal skeletal phenotypes in a mouse model of craniosynostosis | PDF (519 KB) - RNA interference and inhibition of MEK-ERK signaling prevent abnormal skeletal phenotypes in a mouse model of craniosynostosis | Supplementary information

See also: News and Views by Wilkie

Recombination and linkage disequilibrium in Arabidopsis thaliana - pp1151 - 1155

Sung Kim, Vincent Plagnol, Tina T Hu, Christopher Toomajian, Richard M Clark, Stephan Ossowski, Joseph R Ecker, Detlef Weigel & Magnus Nordborg

doi:10.1038/ng2115

First paragraph - | Full Text - Recombination and linkage disequilibrium in Arabidopsis thaliana | PDF (621 KB) - Recombination and linkage disequilibrium in Arabidopsis thaliana | Supplementary information

See also: News and Views by Buckler & Gore

A gene in the multidrug and toxic compound extrusion (MATE) family confers aluminum tolerance in sorghum - pp1156 - 1161

Jurandir V Magalhaes, Jiping Liu, Claudia T Guimarães, Ubiraci G P Lana, Vera M C Alves, Yi-Hong Wang, Robert E Schaffert, Owen A Hoekenga, Miguel A Piñeros, Jon E Shaff, Patricia E Klein, Newton P Carneiro, Cintia M Coelho, Harold N Trick & Leon V Kochian

doi:10.1038/ng2074

First paragraph - | Full Text - A gene in the multidrug and toxic compound extrusion (MATE) family confers aluminum tolerance in sorghum | PDF (353 KB) - A gene in the multidrug and toxic compound extrusion (MATE) family confers aluminum tolerance in sorghum | Supplementary information

A single positively selected West Nile viral mutation confers increased virogenesis in American crows - pp1162 - 1166

Aaron C Brault, Claire Y-H Huang, Stanley A Langevin, Richard M Kinney, Richard A Bowen, Wanichaya N Ramey, Nicholas A Panella, Edward C Holmes, Ann M Powers & Barry R Miller

doi:10.1038/ng2097

First paragraph - | Full Text - A single positively selected West Nile viral mutation confers increased virogenesis in American crows | PDF (236 KB) - A single positively selected West Nile viral mutation confers increased virogenesis in American crows

Bayesian inference of epistatic interactions in case-control studies - pp1167 - 1173

Yu Zhang & Jun S Liu

doi:10.1038/ng2110

Abstract - | Full Text - Bayesian inference of epistatic interactions in case-control studies | PDF (296 KB) - Bayesian inference of epistatic interactions in case-control studies | Supplementary information

Corrigendum: Spontaneous DNA breakage in single living Escherichia coli cells - p1174

Jeanine M Pennington & Susan M Rosenberg

doi:10.1038/ng0907-1174a

Full Text - Corrigendum: Spontaneous DNA breakage in single living Escherichia coli cells | PDF (503 KB) - Corrigendum: Spontaneous DNA breakage in single living Escherichia coli cells

Corrigendum: Genome-wide analysis of mammalian promoter architecture and evolution - p1174

Piero Carninci, Albin Sandelin, Boris Lenhard, Shintaro Katayama, Kazuro Shimokawa, Jasmina Ponjavic, Colin A M Semple, Martin S Taylor, Pär G Engström G, Martin C Frith, Alistair R R Forrest, Wynand B Alkema, Sin Lam Tan, Charles Plessy, Rimantas Kodzius, Timothy Ravasi, Takeya Kasukawa, Shiro Fukuda, Mutsumi Kanamori-Katayama, Yayoi Kitazume, Hideya Kawaji, Chikatoshi Kai, Mari Nakamura, Hideaki Konno, Kenji Nakano, Salim Mottagui-Tabar, Peter Arner, Alessandra Chesi, Stefano Gustincich, Francesca Persichetti, Harukazu Suzuki, Sean M Grimmond, Christine A Wells, Valerio Orlando, Claes Wahlestedt, Edison T Liu, Matthias Harbers, Jun Kawai, Vladimir B Bajic, David A Hume & Yoshihide Hayashizaki

doi:10.1038/ng0907-1174b

Full Text - Corrigendum: Genome-wide analysis of mammalian promoter architecture and evolution | PDF (503 KB) - Corrigendum: Genome-wide analysis of mammalian promoter architecture and evolution