Positively disruptive - p119

doi:10.1038/ng0208-119

Full Text - Positively disruptive | PDF (124 KB) - Positively disruptive

Seymour Benzer 1921–2007 - p121

Mark A Tanouye

doi:10.1038/ng0208-121

Full Text - Seymour Benzer 1921–2007 | PDF (105 KB) - Seymour Benzer 1921–2007

Islamic principles and decision making in bioethics - p123

Bagher Larijani & Farzaneh Zahedi Anaraki

doi:10.1038/ng0208-123

Full Text - Islamic principles and decision making in bioethics | PDF (144 KB) - Islamic principles and decision making in bioethics

A navigator for human genome epidemiology - pp124 - 125

Wei Yu, Marta Gwinn, Melinda Clyne, Ajay Yesupriya & Muin J Khoury

doi:10.1038/ng0208-124

Full Text - A navigator for human genome epidemiology | PDF (130 KB) - A navigator for human genome epidemiology

A genetic view of Jewish history - p127

Harry Ostrer reviews Abraham's Children: Race, Identity and the DNA of the Chosen People by Jon Entine

doi:10.1038/ng0208-127

Full Text - A genetic view of Jewish history | PDF (151 KB) - A genetic view of Jewish history

A treasure trove for lipoprotein biology - pp129 - 130

Aldons J Lusis & Päivi Pajukanta

doi:10.1038/ng0208-129

Full Text - A treasure trove for lipoprotein biology | PDF (1,981 KB) - A treasure trove for lipoprotein biology

See also: Brief Communication by Kooner et al. | Article by Willer et al. | Letter by Kathiresan et al.

The developing mosaic of autoimmune disease risk - pp131 - 132

Lisa M Maier & David A Hafler

doi:10.1038/ng0208-131

Full Text - The developing mosaic of autoimmune disease risk | PDF (213 KB) - The developing mosaic of autoimmune disease risk

See also: Brief Communication by Nath et al. | Letter by Harley et al. | Letter by Kozyrev et al.

Hypoxic reprogramming - pp132 - 134

Daniel P Kelly

doi:10.1038/ng0208-132

Full Text - Hypoxic reprogramming | PDF (725 KB) - Hypoxic reprogramming

See also: Article by Aragonés et al.

Two ways to make an mtDNA bottleneck - pp134 - 135

Konstantin Khrapko

doi:10.1038/ng0208-134

Full Text - Two ways to make an mtDNA bottleneck | PDF (327 KB) - Two ways to make an mtDNA bottleneck

See also: Letter by Cree et al.

Touching base - p137

doi:10.1038/ng0208-137

Full Text - Touching base | PDF (426 KB) - Touching base

Research highlights - p139

doi:10.1038/ng0208-139

Full Text - Research highlights | PDF (93 KB) - Research highlights

Epigenetic regulation and the variability of gene expression - pp141 - 147

Jung Kyoon Choi & Young-Joon Kim

doi:10.1038/ng.2007.58

Abstract - Epigenetic regulation and the variability of gene expression | Full Text - Epigenetic regulation and the variability of gene expression | PDF (3,420 KB) - Epigenetic regulation and the variability of gene expression | Supplementary information

Genome-wide scan identifies variation in MLXIPL associated with plasma triglycerides - pp149 - 151

Jaspal S Kooner, John C Chambers, Carlos A Aguilar-Salinas, David A Hinds, Craig L Hyde, Gregory R Warnes, Francisco J Gómez Pérez, Kelly A Frazer, Paul Elliott, James Scott, Patrice M Milos, David R Cox & John F Thompson

doi:10.1038/ng.2007.61

Abstract - Genome-wide scan identifies variation in : MLXIPL: associated with plasma triglycerides | Full Text - Genome-wide scan identifies variation in MLXIPL associated with plasma triglycerides | PDF (228 KB) - Genome-wide scan identifies variation in MLXIPL associated with plasma triglycerides | Supplementary information

See also: News and Views by Lusis & Pajukanta | Article by Willer et al. | Letter by Kathiresan et al.

A nonsynonymous functional variant in integrin-_M (encoded by ITGAM) is associated with systemic lupus erythematosus - pp152 - 154

Swapan K Nath, Shizhong Han, Xana Kim-Howard, Jennifer A Kelly, Parvathi Viswanathan, Gary S Gilkeson, Wei Chen, Cheng Zhu, Rodger P McEver, Robert P Kimberly, Marta E Alarcón-Riquelme, Timothy J Vyse, Quan-Zhen Li, Edward K Wakeland, Joan T Merrill, Judith A James, Kenneth M Kaufman, Joel M Guthridge & John B Harley

doi:10.1038/ng.71

Abstract - A nonsynonymous functional variant in integrin-[alpha]: M: (encoded by : ITGAM: ) is associated with systemic lupus erythematosus | Full Text - A nonsynonymous functional variant in integrin-M (encoded by ITGAM) is associated with systemic lupus erythematosus | PDF (243 KB) - A nonsynonymous functional variant in integrin-M (encoded by ITGAM) is associated with systemic lupus erythematosus | Supplementary information

See also: News and Views by Maier & Hafler | Letter by Harley et al. | Letter by Kozyrev et al.

Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease - pp155 - 157

Heidi O Nousiainen, Marjo Kestilä, Niklas Pakkasjärvi, Heli Honkala, Satu Kuure, Jonna Tallila, Katri Vuopala, Jaakko Ignatius, Riitta Herva & Leena Peltonen

doi:10.1038/ng.2007.65

Abstract - Mutations in mRNA export mediator : GLE1: result in a fetal motoneuron disease | Full Text - Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease | PDF (260 KB) - Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease | Supplementary information

Ultraconservation identifies a small subset of extremely constrained developmental enhancers - pp158 - 160

Axel Visel, Shyam Prabhakar, Jennifer A Akiyama, Malak Shoukry, Keith D Lewis, Amy Holt, Ingrid Plajzer-Frick, Veena Afzal, Edward M Rubin & Len A Pennacchio

doi:10.1038/ng.2007.55

Abstract - Ultraconservation identifies a small subset of extremely constrained developmental enhancers | Full Text - Ultraconservation identifies a small subset of extremely constrained developmental enhancers | PDF (252 KB) - Ultraconservation identifies a small subset of extremely constrained developmental enhancers | Supplementary information

Newly identified loci that influence lipid concentrations and risk of coronary artery disease - pp161 - 169

Cristen J Willer, Serena Sanna, Anne U Jackson, Angelo Scuteri, Lori L Bonnycastle, Robert Clarke, Simon C Heath, Nicholas J Timpson, Samer S Najjar, Heather M Stringham, James Strait, William L Duren, Andrea Maschio, Fabio Busonero, Antonella Mulas, Giuseppe Albai, Amy J Swift, Mario A Morken, Narisu Narisu, Derrick Bennett, Sarah Parish, Haiqing Shen, Pilar Galan, Pierre Meneton, Serge Hercberg, Diana Zelenika, Wei-Min Chen, Yun Li, Laura J Scott, Paul A Scheet, Jouko Sundvall, Richard M Watanabe, Ramaiah Nagaraja, Shah Ebrahim, Debbie A Lawlor, Yoav Ben-Shlomo, George Davey-Smith, Alan R Shuldiner, Rory Collins, Richard N Bergman, Manuela Uda, Jaakko Tuomilehto, Antonio Cao, Francis S Collins, Edward Lakatta, G Mark Lathrop, Michael Boehnke, David Schlessinger, Karen L Mohlke & Gonçalo R Abecasis

doi:10.1038/ng.76

Abstract - Newly identified loci that influence lipid concentrations and risk of coronary artery disease | Full Text - Newly identified loci that influence lipid concentrations and risk of coronary artery disease | PDF (422 KB) - Newly identified loci that influence lipid concentrations and risk of coronary artery disease | Supplementary information

See also: News and Views by Lusis & Pajukanta | Brief Communication by Kooner et al. | Letter by Kathiresan et al.

Deficiency or inhibition of oxygen sensor Phd1 induces hypoxia tolerance by reprogramming basal metabolism - pp170 - 180

Julián Aragonés, Martin Schneider, Katie Van Geyte, Peter Fraisl, Tom Dresselaers, Massimiliano Mazzone, Ruud Dirkx, Serena Zacchigna, Hélène Lemieux, Nam Ho Jeoung, Diether Lambrechts, Tammie Bishop, Peggy Lafuste, Antonio Diez-Juan, Sarah K Harten, Pieter Van Noten, Katrien De Bock, Carsten Willam, Marc Tjwa, Alexandra Grosfeld, Rachel Navet, Lieve Moons, Thierry Vandendriessche, Christophe Deroose, Bhathiya Wijeyekoon, Johan Nuyts, Benedicte Jordan, Robert Silasi-Mansat, Florea Lupu, Mieke Dewerchin, Chris Pugh, Phil Salmon, Luc Mortelmans, Bernard Gallez, Frans Gorus, Johan Buyse, Francis Sluse, Robert A Harris, Erich Gnaiger, Peter Hespel, Paul Van Hecke, Frans Schuit, Paul Van Veldhoven, Peter Ratcliffe, Myriam Baes, Patrick Maxwell & Peter Carmeliet

doi:10.1038/ng.2007.62

Abstract - Deficiency or inhibition of oxygen sensor Phd1 induces hypoxia tolerance by reprogramming basal metabolism | Full Text - Deficiency or inhibition of oxygen sensor Phd1 induces hypoxia tolerance by reprogramming basal metabolism | PDF (1,010 KB) - Deficiency or inhibition of oxygen sensor Phd1 induces hypoxia tolerance by reprogramming basal metabolism | Supplementary information

See also: News and Views by Kelly

A single gene network accurately predicts phenotypic effects of gene perturbation in Caenorhabditis elegans - pp181 - 188

Insuk Lee, Ben Lehner, Catriona Crombie, Wendy Wong, Andrew G Fraser & Edward M Marcotte

doi:10.1038/ng.2007.70

Abstract - A single gene network accurately predicts phenotypic effects of gene perturbation in : Caenorhabditis elegans | Full Text - A single gene network accurately predicts phenotypic effects of gene perturbation in Caenorhabditis elegans | PDF (500 KB) - A single gene network accurately predicts phenotypic effects of gene perturbation in Caenorhabditis elegans | Supplementary information

Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans - pp189 - 197

Sekar Kathiresan, Olle Melander, Candace Guiducci, Aarti Surti, Noël P Burtt, Mark J Rieder, Gregory M Cooper, Charlotta Roos, Benjamin F Voight, Aki S Havulinna, Björn Wahlstrand, Thomas Hedner, Dolores Corella, E Shyong Tai, Jose M Ordovas, Göran Berglund, Erkki Vartiainen, Pekka Jousilahti, Bo Hedblad, Marja-Riitta Taskinen, Christopher Newton-Cheh, Veikko Salomaa, Leena Peltonen, Leif Groop, David M Altshuler & Marju Orho-Melander

doi:10.1038/ng.75

First paragraph - Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans | Full Text - Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans | PDF (334 KB) - Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans | Supplementary information

See also: News and Views by Lusis & Pajukanta | Brief Communication by Kooner et al. | Article by Willer et al.

Common variants in the GDF5-UQCC region are associated with variation in human height - pp198 - 203

Serena Sanna, Anne U Jackson, Ramaiah Nagaraja, Cristen J Willer, Wei-Min Chen, Lori L Bonnycastle, Haiqing Shen, Nicholas Timpson, Guillaume Lettre, Gianluca Usala, Peter S Chines, Heather M Stringham, Laura J Scott, Mariano Dei, Sandra Lai, Giuseppe Albai, Laura Crisponi, Silvia Naitza, Kimberly F Doheny, Elizabeth W Pugh, Yoav Ben-Shlomo, Shah Ebrahim, Debbie A Lawlor, Richard N Bergman, Richard M Watanabe, Manuela Uda, Jaakko Tuomilehto, Josef Coresh, Joel N Hirschhorn, Alan R Shuldiner, David Schlessinger, Francis S Collins, George Davey Smith, Eric Boerwinkle, Antonio Cao, Michael Boehnke, Gonçalo R Abecasis & Karen L Mohlke

doi:10.1038/ng.74

First paragraph - Common variants in the : GDF5-UQCC: region are associated with variation in human height | Full Text - Common variants in the GDF5-UQCC region are associated with variation in human height | PDF (407 KB) - Common variants in the GDF5-UQCC region are associated with variation in human height | Supplementary information

Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci - pp204 - 210

The International Consortium for Systemic Lupus Erythematosus Genetics (SLEGEN), John B Harley, Marta E Alarcón-Riquelme, Lindsey A Criswell, Chaim O Jacob, Robert P Kimberly, Kathy L Moser, Betty P Tsao, Timothy J Vyse & Carl D Langefeld

doi:10.1038/ng.81

First paragraph - Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in : ITGAM: , : PXK: , : KIAA1542: and other loci | Full Text - Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci | PDF (344 KB) - Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci | Supplementary information

See also: News and Views by Maier & Hafler | Brief Communication by Nath et al. | Letter by Kozyrev et al.

Functional variants in the B-cell gene BANK1 are associated with systemic lupus erythematosus - pp211 - 216

Sergey V Kozyrev, Anna-Karin Abelson, Jerome Wojcik, Ammar Zaghlool, M V Prasad Linga Reddy, Elena Sanchez, Iva Gunnarsson, Elisabet Svenungsson, Gunnar Sturfelt, Andreas Jönsen, Lennart Truedsson, Bernardo A Pons-Estel, Torsten Witte, Sandra D'Alfonso, Nadia Barrizzone, Maria Giovanna Danieli, Carmen Gutierrez, Ana Suarez, Peter Junker, Helle Laustrup, Maria Francisca González-Escribano, Javier Martin, Hadi Abderrahim & Marta E Alarcón-Riquelme

doi:10.1038/ng.79

First paragraph - Functional variants in the B-cell gene : BANK1: are associated with systemic lupus erythematosus | Full Text - Functional variants in the B-cell gene BANK1 are associated with systemic lupus erythematosus | PDF (314 KB) - Functional variants in the B-cell gene BANK1 are associated with systemic lupus erythematosus | Supplementary information

See also: News and Views by Maier & Hafler | Brief Communication by Nath et al. | Letter by Harley et al.

The same sequence variant on 9p21 associates with myocardial infarction, abdominal aortic aneurysm and intracranial aneurysm - pp217 - 224

Anna Helgadottir, Gudmar Thorleifsson, Kristinn P Magnusson, Solveig Grétarsdottir, Valgerdur Steinthorsdottir, Andrei Manolescu, Gregory T Jones, Gabriel J E Rinkel, Jan D Blankensteijn, Antti Ronkainen, Juha E Jääskeläinen, Yoshiki Kyo, Guy M Lenk, Natzi Sakalihasan, Konstantinos Kostulas, Anders Gottsäter, Andrea Flex, Hreinn Stefansson, Torben Hansen, Gitte Andersen, Shantel Weinsheimer, Knut Borch-Johnsen, Torben Jorgensen, Svati H Shah, Arshed A Quyyumi, Christopher B Granger, Muredach P Reilly, Harland Austin, Allan I Levey, Viola Vaccarino, Ebba Palsdottir, G Bragi Walters, Thorbjorg Jonsdottir, Steinunn Snorradottir, Dana Magnusdottir, Gudmundur Gudmundsson, Robert E Ferrell, Sigurlaug Sveinbjornsdottir, Juha Hernesniemi, Mika Niemelä, Raymond Limet, Karl Andersen, Gunnar Sigurdsson, Rafn Benediktsson, Eric L G Verhoeven, Joep A W Teijink, Diederick E Grobbee, Daniel J Rader, David A Collier, Oluf Pedersen, Roberto Pola, Jan Hillert, Bengt Lindblad, Einar M Valdimarsson, Hulda B Magnadottir, Cisca Wijmenga, Gerard Tromp, Annette F Baas, Ynte M Ruigrok, Andre M van Rij, Helena Kuivaniemi, Janet T Powell, Stefan E Matthiasson, Jeffrey R Gulcher, Gudmundur Thorgeirsson, Augustine Kong, Unnur Thorsteinsdottir & Kari Stefansson

doi:10.1038/ng.72

First paragraph - The same sequence variant on 9p21 associates with myocardial infarction, abdominal aortic aneurysm and intracranial aneurysm | Full Text - The same sequence variant on 9p21 associates with myocardial infarction, abdominal aortic aneurysm and intracranial aneurysm | PDF (311 KB) - The same sequence variant on 9p21 associates with myocardial infarction, abdominal aortic aneurysm and intracranial aneurysm | Supplementary information

Genome-wide analysis of transcript isoform variation in humans - pp225 - 231

Tony Kwan, David Benovoy, Christel Dias, Scott Gurd, Cathy Provencher, Patrick Beaulieu, Thomas J Hudson, Rob Sladek & Jacek Majewski

doi:10.1038/ng.2007.57

First paragraph - Genome-wide analysis of transcript isoform variation in humans | Full Text - Genome-wide analysis of transcript isoform variation in humans | PDF (390 KB) - Genome-wide analysis of transcript isoform variation in humans | Supplementary information

Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling - pp232 - 236

Elen Griffith, Sarah Walker, Carol-Anne Martin, Paola Vagnarelli, Tom Stiff, Bertrand Vernay, Nouriya Al Sanna, Anand Saggar, Ben Hamel, William C Earnshaw, Penny A Jeggo, Andrew P Jackson & Mark O'Driscoll

doi:10.1038/ng.2007.80

First paragraph - Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling | Full Text - Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling | PDF (665 KB) - Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling | Supplementary information

Deletions and epimutations affecting the human 14q32.2 imprinted region in individuals with paternal and maternal upd(14)-like phenotypes - pp237 - 242

Masayo Kagami, Yoichi Sekita, Gen Nishimura, Masahito Irie, Fumiko Kato, Michiyo Okada, Shunji Yamamori, Hiroshi Kishimoto, Masahiro Nakayama, Yukichi Tanaka, Kentarou Matsuoka, Tsutomu Takahashi, Mika Noguchi, Yoko Tanaka, Kouji Masumoto, Takeshi Utsunomiya, Hiroko Kouzan, Yumiko Komatsu, Hirofumi Ohashi, Kenji Kurosawa, Kenjirou Kosaki, Anne C Ferguson-Smith, Fumitoshi Ishino & Tsutomu Ogata

doi:10.1038/ng.2007.56

First paragraph - Deletions and epimutations affecting the human 14q32.2 imprinted region in individuals with paternal and maternal upd(14)-like phenotypes | Full Text - Deletions and epimutations affecting the human 14q32.2 imprinted region in individuals with paternal and maternal upd(14)-like phenotypes | PDF (529 KB) - Deletions and epimutations affecting the human 14q32.2 imprinted region in individuals with paternal and maternal upd(14)-like phenotypes | Supplementary information

Role of retrotransposon-derived imprinted gene, Rtl1, in the feto-maternal interface of mouse placenta - pp243 - 248

Yoichi Sekita, Hirotaka Wagatsuma, Kenji Nakamura, Ryuichi Ono, Masayo Kagami, Noriko Wakisaka, Toshiaki Hino, Rika Suzuki-Migishima, Takashi Kohda, Atsuo Ogura, Tsutomu Ogata, Minesuke Yokoyama, Tomoko Kaneko-Ishino & Fumitoshi Ishino

doi:10.1038/ng.2007.51

First paragraph - Role of retrotransposon-derived imprinted gene, : Rtl1: , in the feto-maternal interface of mouse placenta | Full Text - Role of retrotransposon-derived imprinted gene, Rtl1, in the feto-maternal interface of mouse placenta | PDF (855 KB) - Role of retrotransposon-derived imprinted gene, Rtl1, in the feto-maternal interface of mouse placenta | Supplementary information

A reduction of mitochondrial DNA molecules during embryogenesis explains the rapid segregation of genotypes - pp249 - 254

Lynsey M Cree, David C Samuels, Susana Chuva de Sousa Lopes, Harsha Karur Rajasimha, Passorn Wonnapinij, Jeffrey R Mann, Hans-Henrik M Dahl & Patrick F Chinnery

doi:10.1038/ng.2007.63

First paragraph - A reduction of mitochondrial DNA molecules during embryogenesis explains the rapid segregation of genotypes | Full Text - A reduction of mitochondrial DNA molecules during embryogenesis explains the rapid segregation of genotypes | PDF (366 KB) - A reduction of mitochondrial DNA molecules during embryogenesis explains the rapid segregation of genotypes | Supplementary information

See also: News and Views by Khrapko

Erratum: PU.1 is a major downstream target of AML1 (RUNX1) in adult mouse hematopoiesis - p255

Gang Huang, Pu Zhang, Hideyo Hirai, Shannon Elf, Xiaomei Yan, Zhao Chen, Steffen Koschmieder, Yutaka Okuno, Tajhal Dayaram, Joseph D Growney, Ramesh A Shivdasani, D Gary Gilliland, Nancy A Speck, Stephen D Nimer & Daniel G Tenen

doi:10.1038/ng0208-255a

Full Text - Erratum: PU.1 is a major downstream target of AML1 (RUNX1) in adult mouse hematopoiesis | PDF (72 KB) - Erratum: PU.1 is a major downstream target of AML1 (RUNX1) in adult mouse hematopoiesis

Erratum: Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11 - p255

Henry Houlden, Janel Johnson, Christopher Gardner-Thorpe, Tammaryn Lashley, Dena Hernandez, Paul Worth, Andrew B Singleton, David A Hilton, Janice Holton, Tamas Revesz, Mary B Davis, Paolo Giunti & Nicholas W Wood

doi:10.1038/ng0208-255b

Full Text - Erratum: Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11 | PDF (72 KB) - Erratum: Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11

Corrigendum: Mutations in smooth muscle -actin (ACTA2) lead to thoracic aortic aneurysms and dissections - p255

Dong-Chuan Guo, Hariyadarshi Pannu, Van Tran-Fadulu, Christina L Papke, Robert K Yu, Nili Avidan, Scott Bourgeois, Anthony L Estrera, Hazim J Safi, Elizabeth Sparks, David Amor, Lesley Ades, Vivienne McConnell, Colin E Willoughby, Dianne Abuelo, Marcia Willing, Richard A Lewis, Dong H Kim, Steve Scherer, Poyee P Tung, Chul Ahn, L Maximilian Buja, C S Raman, Sanjay S Shete & Dianna M Milewicz

doi:10.1038/ng0208-255c

Full Text - Corrigendum: Mutations in smooth muscle -actin (ACTA2) lead to thoracic aortic aneurysms and dissections | PDF (72 KB) - Corrigendum: Mutations in smooth muscle -actin (ACTA2) lead to thoracic aortic aneurysms and dissections