Mostly, your results matter to others - p135

doi:10.1038/ng0209-135

High-throughput datasets and analysis protocols are intrinsically difficult to referee. Community standards enforced by journals may be less effective than is widely appreciated. Greater awareness of the needs and value of secondary data users can result in higher-impact papers.

Abstract - | Full Text - Mostly, your results matter to others | PDF (142 KB) - Mostly, your results matter to others

Orgenic Food - p137

Jonathan Gressel reviews Tomorrow's Table: Organic Farming, Genetics and the Future of Food by Pamela C. Ronald & Raoul W. Adamchak

doi:10.1038/ng0209-137

Full Text - Orgenic Food | PDF (133 KB) - Orgenic Food

A supersized list of obesity genes - pp139 - 140

Marten Hofker & Cisca Wijmenga

doi:10.1038/ng0209-139

Obesity genetics is making progress, as evidenced by the recent discovery of 15 new loci associated with body mass index. The function of the likely candidate genes in associated regions suggests a key role for the hypothalamus in the genetics of weight control.

Abstract - | Full Text - A supersized list of obesity genes | PDF (122 KB) - A supersized list of obesity genes

See also: Brief Communication by Meyre et al.

Hair lost in translation - pp141 - 142

Lorin Weiner & Janice L Brissette

doi:10.1038/ng0209-141

A new study identifies mutations in the HR gene as the cause of Marie Unna hereditary hypotrichosis (MUHH). The mutations seem to disrupt an unusual leader sequence–based mechanism of translational repression, making MUHH the first example of a disease linked to this form of repression.

Abstract - | Full Text - Hair lost in translation | PDF (207 KB) - Hair lost in translation

See also: Letter by Wen et al.

Reverse evolution and evolutionary memory - pp142 - 143

Michael M Desai

doi:10.1038/ng0209-142

Experimental reverse evolution, in which a population is readapted to an ancestral environment, can probe the nature and extent of evolutionary memory. A new study shows that standing genetic variation is key to this memory in experimental Drosophila populations, where selection drives rapid but incomplete convergence to ancestral genotypes.

Abstract - | Full Text - Reverse evolution and evolutionary memory | PDF (306 KB) - Reverse evolution and evolutionary memory

See also: Letter by Teotónio et al.

Integrative genetical genomics in Arabidopsis - pp144 - 145

Wout Boerjan & Marnik Vuylsteke

doi:10.1038/ng0209-144

An integrative genetical genomics study in Arabidopsis reports that six QTL hot spots have system-wide effects on a wide range of molecular and phenotypic traits, providing empirical evidence for phenotypic buffering.

Abstract - | Full Text - Integrative genetical genomics in Arabidopsis | PDF (160 KB) - Integrative genetical genomics in Arabidopsis

See also: Brief Communication by Fu et al.

Research Highlights - p147

doi:10.1038/ng0209-147

Full Text - Research Highlights | PDF (130 KB) - Research Highlights

Repeatability of published microarray gene expression analyses - pp149 - 155

John P A Ioannidis, David B Allison, Catherine A Ball, Issa Coulibaly, Xiangqin Cui, Aedín C Culhane, Mario Falchi, Cesare Furlanello, Laurence Game, Giuseppe Jurman, Jon Mangion, Tapan Mehta, Michael Nitzberg, Grier P Page, Enrico Petretto & Vera van Noort

doi:10.1038/ng.295

Four teams of analysts attempted exact reproduction of results of 18 microarray experiments published in the journal in 2005–2006 using the data and analytical methods detailed in the original publications. In addition to MIAME criteria, the authors recommend publication of an explicit record of the analytical protocols used.

Abstract - | Full Text - Repeatability of published microarray gene expression analyses | PDF (391 KB) - Repeatability of published microarray gene expression analyses | Supplementary information

Genome-wide association study for early-onset and morbid adult obesity identifies three new risk loci in European populations - pp157 - 159

David Meyre, Jérôme Delplanque, Jean-Claude Chèvre, Cécile Lecoeur, Stéphane Lobbens, Sophie Gallina, Emmanuelle Durand, Vincent Vatin, Franck Degraeve, Christine Proença, Stefan Gaget, Antje Körner, Peter Kovacs, Wieland Kiess, Jean Tichet, Michel Marre, Anna-Liisa Hartikainen, Fritz Horber, Natascha Potoczna, Serge Hercberg, Claire Levy-Marchal, François Pattou, Barbara Heude, Maithé Tauber, Mark I McCarthy, Alexandra I F Blakemore, Alexandre Montpetit, Constantin Polychronakos, Jacques Weill, Lachlan J M Coin, Julian Asher, Paul Elliott, Marjo-Riitta Järvelin, Sophie Visvikis-Siest, Beverley Balkau, Rob Sladek, David Balding, Andrew Walley, Christian Dina & Philippe Froguel

doi:10.1038/ng.301

Philippe Froguel and colleauges present a genome-wide association study for early-onset and morbid adult obesity, reporting three new genetic associations to obesity.

Abstract - | Full Text - Genome-wide association study for early-onset and morbid adult obesity identifies three new risk loci in European populations | PDF (191 KB) - Genome-wide association study for early-onset and morbid adult obesity identifies three new risk loci in European populations | Supplementary information

See also: News and Views by Hofker & Wijmenga

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy - pp160 - 162

Ingo Helbig, Heather C Mefford, Andrew J Sharp, Michel Guipponi, Marco Fichera, Andre Franke, Hiltrud Muhle, Carolien de Kovel, Carl Baker, Sarah von Spiczak, Katherine L Kron, Ines Steinich, Ailing A Kleefu-Lie, Costin Leu, Verena Gaus, Bettina Schmitz, Karl M Klein, Philipp S Reif, Felix Rosenow, Yvonne Weber, Holger Lerche, Fritz Zimprich, Lydia Urak, Karoline Fuchs, Martha Feucht, Pierre Genton, Pierre Thomas, Frank Visscher, Gerrit-Jan de Haan, Rikke S Møller, Helle Hjalgrim, Daniela Luciano, Michael Wittig, Michael Nothnagel, Christian E Elger, Peter Nürnberg, Corrado Romano, Alain Malafosse, Bobby P C Koeleman, Dick Lindhout, Ulrich Stephani, Stefan Schreiber, Evan E Eichler & Thomas Sander

doi:10.1038/ng.292

Thomas Sander and colleagues identify 15q13.3 microdeletions in 1% of individuals with idiopathic generalized epilepsy (IGE). The majority of these individuals do not show intellectual disability, schizophrenia or other neuropsychiatric phenotypes, thus extending the phenotypic spectrum associated with 15q13.3 microdeletions.

Abstract - | Full Text - 15q13.3 microdeletions increase risk of idiopathic generalized epilepsy | PDF (307 KB) - 15q13.3 microdeletions increase risk of idiopathic generalized epilepsy | Supplementary information

DCTN1 mutations in Perry syndrome - pp163 - 165

Matthew J Farrer, Mary M Hulihan, Jennifer M Kachergus, Justus C Dächsel, A Jon Stoessl, Linda L Grantier, Susan Calne, Donald B Calne, Bernard Lechevalier, Francoise Chapon, Yoshio Tsuboi, Tatsuo Yamada, Ludwig Gutmann, Bülent Elibol, Kailash P Bhatia, Christian Wider, Carles Vilariño-Güell, Owen A Ross, Laura A Brown, Monica Castanedes-Casey, Dennis W Dickson & Zbigniew K Wszolek

doi:10.1038/ng.293

Matthew Farrer and colleagues report missense mutations in DCTN1, encoding dynactin, in eight families with Perry syndrome, a neurodegenerative disorder marked by early-onset parkinsonism, depression, severe weight loss and hypoventilation.

Abstract - | Full Text - DCTN1 mutations in Perry syndrome | PDF (335 KB) - DCTN1 mutations in Perry syndrome | Supplementary information

System-wide molecular evidence for phenotypic buffering in Arabidopsis - pp166 - 167

Jingyuan Fu, Joost J B Keurentjes, Harro Bouwmeester, Twan America, Francel W A Verstappen, Jane L Ward, Michael H Beale, Ric C H de Vos, Martijn Dijkstra, Richard A Scheltema, Frank Johannes, Maarten Koornneef, Dick Vreugdenhil, Rainer Breitling & Ritsert C Jansen

doi:10.1038/ng.308

Ritsert Jansen and colleagues present an integrative analysis for genome-wide variation in transcript, protein and metabolite abundance in Arabidopsis, reporting six QTL hot spots with system-wide effects.

Abstract - | Full Text - System-wide molecular evidence for phenotypic buffering in Arabidopsis | PDF (198 KB) - System-wide molecular evidence for phenotypic buffering in Arabidopsis | Supplementary information

See also: News and Views by Boerjan & Vuylsteke

Increased LIS1 expression affects human and mouse brain development - pp168 - 177

Weimin Bi, Tamar Sapir, Oleg A Shchelochkov, Feng Zhang, Marjorie A Withers, Jill V Hunter, Talia Levy, Vera Shinder, Daniel A Peiffer, Kevin L Gunderson, Marjan M Nezarati, Vern Ann Shotts, Stephen S Amato, Sarah K Savage, David J Harris, Debra-Lynn Day-Salvatore, Michele Horner, Xin-Yan Lu, Trilochan Sahoo, Yuchio Yanagawa, Arthur L Beaudet, Sau Wai Cheung, Salvador Martinez, James R Lupski & Orly Reiner

doi:10.1038/ng.302

James Lupski, Orly Reiner and colleagues report seven individuals with submicroscopic copy number gains in the 17p13.3 region, supported by additional studies in transgenic mice. Duplications overlapping PAFAH1B1 (encoding LIS1) were associated with mild brain structural abnormalities, moderate to severe developmental delay and failure to thrive.

Abstract - | Full Text - Increased LIS1 expression affects human and mouse brain development | PDF (1,275 KB) - Increased LIS1 expression affects human and mouse brain development | Supplementary information

The human colon cancer methylome shows similar hypo- and hypermethylation at conserved tissue-specific CpG island shores - pp178 - 186

Rafael A Irizarry, Christine Ladd-Acosta, Bo Wen, Zhijin Wu, Carolina Montano, Patrick Onyango, Hengmi Cui, Kevin Gabo, Michael Rongione, Maree Webster, Hong Ji, James B Potash, Sarven Sabunciyan & Andrew P Feinberg

doi:10.1038/ng.298

Andy Feinberg and colleagues show in a colon cancer model that most DNA methylation alterations occur in sequence regions distinct from promoters or canonical CpG islands, termed 'CpG island shores', and that this methylation is strongly related to gene expression and can discriminate tissue types regardless of species of origin.

Abstract - | Full Text - The human colon cancer methylome shows similar hypo- and hypermethylation at conserved tissue-specific CpG island shores | PDF (2,633 KB) - The human colon cancer methylome shows similar hypo- and hypermethylation at conserved tissue-specific CpG island shores | Supplementary information

A common MYBPC3 (cardiac myosin binding protein C) variant associated with cardiomyopathies in South Asia - pp187 - 191

Perundurai S Dhandapany, Sakthivel Sadayappan, Yali Xue, Gareth T Powell, Deepa Selvi Rani, Prathiba Nallari, Taranjit Singh Rai, Madhu Khullar, Pedro Soares, Ajay Bahl, Jagan Mohan Tharkan, Pradeep Vaideeswar, Andiappan Rathinavel, Calambur Narasimhan, Dharma Rakshak Ayapati, Qasim Ayub, S Qasim Mehdi, Stephen Oppenheimer, Martin B Richards, Alkes L Price, Nick Patterson, David Reich, Lalji Singh, Chris Tyler-Smith & Kumarasamy Thangaraj

doi:10.1038/ng.309

Kumarasamy Thangaraj and colleagues describe the association of a 25-bp deletion in MYBPC3 with heritable cardiomyopathies in Indian populations. They find a high prevalence (4–8%) of the deletion in surveyed Indian populations and an absence of the deletion in surveyed populations outside of Southeast Asia.

First Paragraph - | Full Text - A common MYBPC3 (cardiac myosin binding protein C) variant associated with cardiomyopathies in South Asia | PDF (574 KB) - A common MYBPC3 (cardiac myosin binding protein C) variant associated with cardiomyopathies in South Asia | Supplementary information

Genetic variation in PCDH11X is associated with susceptibility to late-onset Alzheimer's disease - pp192 - 198

Minerva M Carrasquillo, Fanggeng Zou, V Shane Pankratz, Samantha L Wilcox, Li Ma, Louise P Walker, Samuel G Younkin, Curtis S Younkin, Linda H Younkin, Gina D Bisceglio, Nilufer Ertekin-Taner, Julia E Crook, Dennis W Dickson, Ronald C Petersen, Neill R Graff-Radford & Steven G Younkin

doi:10.1038/ng.305

Steve Younkin and colleagues report the results of a genome-wide association study for late-onset Alzheimer's disease. A variant on the X chromosome in PCDH11X is associated with increased risk of the disorder. PCDH11X encodes a protocadherin and is a member of a cell surface receptor molecule family.

First Paragraph - | Full Text - Genetic variation in PCDH11X is associated with susceptibility to late-onset Alzheimer's disease | PDF (364 KB) - Genetic variation in PCDH11X is associated with susceptibility to late-onset Alzheimer's disease | Supplementary information

Genome-wide scan reveals association of psoriasis with IL-23 and NF-B pathways - pp199 - 204

Rajan P Nair, Kristina Callis Duffin, Cynthia Helms, Jun Ding, Philip E Stuart, David Goldgar, Johann E Gudjonsson, Yun Li, Trilokraj Tejasvi, Bing-Jian Feng, Andreas Ruether, Stefan Schreiber, Michael Weichenthal, Dafna Gladman, Proton Rahman, Steven J Schrodi, Sampath Prahalad, Stephen L Guthery, Judith Fischer, Wilson Liao, Pui-Yan Kwok, Alan Menter, G Mark Lathrop, Carol A Wise, Ann B Begovich, John J Voorhees, James T Elder, Gerald G Krueger, Anne M Bowcock, Gonçalo R Abecasis & for the Collaborative Association Study of Psoriasis

doi:10.1038/ng.311

The Collaborative Association Study of Psoriasis, in partnership with the Genetic Association Information Network (GAIN), reports a genome-wide association study for psoriasis. They identify new replicated associations that highlight a role for the IL-23 and NF-B pathways in psoriasis susceptibility.

First Paragraph - | Full Text - Genome-wide scan reveals association of psoriasis with IL-23 and NF-B pathways | PDF (709 KB) - Genome-wide scan reveals association of psoriasis with IL-23 and NF-B pathways | Supplementary information

See also: Letter by Zhang et al. | Letter by de Cid et al.

Psoriasis genome-wide association study identifies susceptibility variants within LCE gene cluster at 1q21 - pp205 - 210

Xue-Jun Zhang, Wei Huang, Sen Yang, Liang-Dan Sun, Feng-Yu Zhang, Qi-Xing Zhu, Fu-Ren Zhang, Chi Zhang, Wen-Hui Du, Xiong-Ming Pu, Hui Li, Feng-Li Xiao, Zai-Xing Wang, Yong Cui, Fei Hao, Jie Zheng, Xue-Qin Yang, Hui Cheng, Chun-Di He, Xiao-Ming Liu, Li-Min Xu, Hou-Feng Zheng, Shu-Mei Zhang, Jian-Zhong Zhang, Hong-Yan Wang, Yi-Lin Cheng, Bi-Hua Ji, Qiao-Yun Fang, Yu-Zhen Li, Fu-Sheng Zhou, Jian-Wen Han, Cheng Quan, Bin Chen, Jun-Lin Liu, Da Lin, Li Fan, An-Ping Zhang, Sheng-Xiu Liu, Chun-Jun Yang, Pei-Guang Wang, Wen-Ming Zhou, Guo-Shu Lin, Wei-Dong Wu, Xing Fan, Min Gao, Bao-Qi Yang, Wen-Sheng Lu, Zheng Zhang, Kun-Ju Zhu, Song-Ke Shen, Min Li, Xiao-Yan Zhang, Ting-Ting Cao, Wei Ren, Xin Zhang, Jun He, Xian-Fa Tang, Shun Lu, Jian-Qiang Yang, Lin Zhang, Dan-Ni Wang, Feng Yuan, Xian-Yong Yin, Hong-Jie Huang, Hai-Feng Wang, Xin-Yi Lin & Jian-Jun Liu

doi:10.1038/ng.310

Xuejun Zhang and colleagues report a genome-wide association and replication studies for psoriasis, conducted in Chinese populations. They confirm previous associations in MHC and IL12B to psoriasis susceptibility, and report a new association within the LCE gene cluster at 1q21.

First Paragraph - | Full Text - Psoriasis genome-wide association study identifies susceptibility variants within LCE gene cluster at 1q21 | PDF (580 KB) - Psoriasis genome-wide association study identifies susceptibility variants within LCE gene cluster at 1q21 | Supplementary information

See also: Letter by Nair et al. | Letter by de Cid et al.

Deletion of the late cornified envelope LCE3B and LCE3C genes as a susceptibility factor for psoriasis - pp211 - 215

Rafael de Cid, Eva Riveira-Munoz, Patrick L J M Zeeuwen, Jason Robarge, Wilson Liao, Emma N Dannhauser, Emiliano Giardina, Philip E Stuart, Rajan Nair, Cynthia Helms, Georgia Escaramís, Ester Ballana, Gemma Martín-Ezquerra, Martin den Heijer, Marijke Kamsteeg, Irma Joosten, Evan E Eichler, Conxi Lázaro, Ramón M Pujol, Lluís Armengol, Gonçalo Abecasis, James T Elder, Giuseppe Novelli, John A L Armour, Pui-Yan Kwok, Anne Bowcock, Joost Schalkwijk & Xavier Estivill

doi:10.1038/ng.313

Xavier Estivill and colleagues report that deletion of the late cornified envelope LCE3C and LCE3B genes increases susceptibility to psoriasis, possibly through compromised skin barrier function.

First Paragraph - | Full Text - Deletion of the late cornified envelope LCE3B and LCE3C genes as a susceptibility factor for psoriasis | PDF (414 KB) - Deletion of the late cornified envelope LCE3B and LCE3C genes as a susceptibility factor for psoriasis | Supplementary information

See also: Letter by Nair et al. | Letter by Zhang et al.

Ulcerative colitis–risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study - pp216 - 220

Mark S Silverberg, Judy H Cho, John D Rioux, Dermot P B McGovern, Jing Wu, Vito Annese, Jean-Paul Achkar, Philippe Goyette, Regan Scott, Wei Xu, M Michael Barmada, Lambertus Klei, Mark J Daly, Clara Abraham, Theodore M Bayless, Fabrizio Bossa, Anne M Griffiths, Andrew F Ippoliti, Raymond G Lahaie, Anna Latiano, Pierre Paré, Deborah D Proctor, Miguel D Regueiro, A Hillary Steinhart, Stephan R Targan, L Philip Schumm, Emily O Kistner, Annette T Lee, Peter K Gregersen, Jerome I Rotter, Steven R Brant, Kent D Taylor, Kathryn Roeder & Richard H Duerr

doi:10.1038/ng.275

Richard Duerr and colleagues present a genome-wide association study of ulcerative colitis. They identify new risk loci on chromosomes 1p36 and 12q15.

First Paragraph - | Full Text - Ulcerative colitis–risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study | PDF (381 KB) - Ulcerative colitis–risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study | Supplementary information

Sequence variants at the TERT-CLPTM1L locus associate with many cancer types - pp221 - 227

Thorunn Rafnar, Patrick Sulem, Simon N Stacey, Frank Geller, Julius Gudmundsson, Asgeir Sigurdsson, Margret Jakobsdottir, Hafdis Helgadottir, Steinunn Thorlacius, Katja K H Aben, Thorarinn Blöndal, Thorgeir E Thorgeirsson, Gudmar Thorleifsson, Kristleifur Kristjansson, Kristin Thorisdottir, Rafn Ragnarsson, Bardur Sigurgeirsson, Halla Skuladottir, Tomas Gudbjartsson, Helgi J Isaksson, Gudmundur V Einarsson, Kristrun R Benediktsdottir, Bjarni A Agnarsson, Karl Olafsson, Anna Salvarsdottir, Hjordis Bjarnason, Margret Asgeirsdottir, Kari T Kristinsson, Sigurborg Matthiasdottir, Steinunn G Sveinsdottir, Silvia Polidoro, Veronica Höiom, Rafael Botella-Estrada, Kari Hemminki, Peter Rudnai, D Timothy Bishop, Marcello Campagna, Eliane Kellen, Maurice P Zeegers, Petra de Verdier, Ana Ferrer, Dolores Isla, Maria Jesus Vidal, Raquel Andres, Berta Saez, Pablo Juberias, Javier Banzo, Sebastian Navarrete, Alejandro Tres, Donghui Kan, Annika Lindblom, Eugene Gurzau, Kvetoslava Koppova, Femmie de Vegt, Jack A Schalken, Henricus F M van der Heijden, Hans J Smit, René A Termeer, Egbert Oosterwijk, Onno van Hooij, Eduardo Nagore, Stefano Porru, Gunnar Steineck, Johan Hansson, Frank Buntinx, William J Catalona, Giuseppe Matullo, Paolo Vineis, Anne E Kiltie, José I Mayordomo, Rajiv Kumar, Lambertus A Kiemeney, Michael L Frigge, Thorvaldur Jonsson, Hafsteinn Saemundsson, Rosa B Barkardottir, Eirikur Jonsson, Steinn Jonsson, Jon H Olafsson, Jeffrey R Gulcher, Gisli Masson, Daniel F Gudbjartsson, Augustine Kong, Unnur Thorsteinsdottir & Kari Stefansson

doi:10.1038/ng.296

Following a replicated genome-wide association study for basal cell carcinoma, Thorunn Rafnar and Patrick Sulem and colleagues have identified a locus associated with multiple cancers that contains the telomerase reverse transcriptase gene TERT and the CLPTM1L gene implicated in cisplatin-induced apoptosis.

First Paragraph - | Full Text - Sequence variants at the TERT-CLPTM1L locus associate with many cancer types | PDF (364 KB) - Sequence variants at the TERT-CLPTM1L locus associate with many cancer types | Supplementary information

Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis - pp228 - 233

Yaran Wen, Yang Liu, Yiming Xu, Yiwei Zhao, Rui Hua, Kaibo Wang, Miao Sun, Yuanhong Li, Sen Yang, Xue-Jun Zhang, Roland Kruse, Sven Cichon, Regina C Betz, Markus M Nöthen, Maurice A M van Steensel, Michel van Geel, Peter M Steijlen, Daniel Hohl, Marcel Huber, Giles S Dunnill, Cameron Kennedy, Andrew Messenger, Colin S Munro, Alessandro Terrinoni, Alain Hovnanian, Christine Bodemer, Yves de Prost, Amy S Paller, Alan D Irvine, Rod Sinclair, Jack Green, Dandan Shang, Qing Liu, Yang Luo, Li Jiang, Hong-Duo Chen, Wilson H-Y Lo, W H Irwin McLean, Chun-Di He & Xue Zhang

doi:10.1038/ng.276

Xue Zhang and colleagues report mutations in an inhibitory upstream open reading frame flanking the human hairless gene in individuals with Marie Unna hereditary hypotrichosis. These mutations result in increased translation of the main physiological hairless ORF, suggesting that fine-tuning of hairless protein levels is important in the control of hair growth.

First Paragraph - | Full Text - Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis | PDF (735 KB) - Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis | Supplementary information

See also: News and Views by Weiner & Brissette

Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B₁₂ metabolism - pp234 - 239

Frank Rutsch, Susann Gailus, Isabelle R Miousse, Terttu Suormala, Corinne Sagné, Mohammad Reza Toliat, Gudrun Nürnberg, Tanja Wittkampf, Insa Buers, Azita Sharifi, Martin Stucki, Christian Becker, Matthias Baumgartner, Horst Robenek, Thorsten Marquardt, Wolfgang Höhne, Bruno Gasnier, David S Rosenblatt, Brian Fowler & Peter Nürnberg

doi:10.1038/ng.294

Frank Rutsch and colleagues show that the cblF inborn error of vitamin B₁₂ metabolism, which is characterized by accumulation of free vitamin B₁₂ in lysosomes, is caused by mutations in the gene encoding the lysosomal membrane protein LMBD1. These findings suggest a critical function for LMBD1 in exporting cobalamin from lysosomes.

First Paragraph - | Full Text - Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism | PDF (563 KB) - Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism | Supplementary information

DNA methylation profiles in monozygotic and dizygotic twins - pp240 - 245

Zachary A Kaminsky, Thomas Tang, Sun-Chong Wang, Carolyn Ptak, Gabriel H T Oh, Albert H C Wong, Laura A Feldcamp, Carl Virtanen, Jonas Halfvarson, Curt Tysk, Allan F McRae, Peter M Visscher, Grant W Montgomery, Irving I Gottesman, Nicholas G Martin & Art Petronis

doi:10.1038/ng.286

Arturas Petronis and colleagues present the first genome-wide study of interindividual differences in DNA methylation through genome-scale DNA methylation profiling in tissues from monozygotic and dizygotic twins. The data showed that dizygotic co-twins have higher degrees of epigenetic differences than monozygotic co-twins, which the authors attribute at least partially to epigenetic, as opposed to genetic, differences in the zygotes.

First Paragraph - | Full Text - DNA methylation profiles in monozygotic and dizygotic twins | PDF (703 KB) - DNA methylation profiles in monozygotic and dizygotic twins | Supplementary information

Large histone H3 lysine 9 dimethylated chromatin blocks distinguish differentiated from embryonic stem cells - pp246 - 250

Bo Wen, Hao Wu, Yoichi Shinkai, Rafael A Irizarry & Andrew P Feinberg

doi:10.1038/ng.297

Andrew Feinberg and colleagues identify large chromatin domains marked by histone H3 lysine 9 dimethylation in human and mouse cells. These blocks show tissue specificity, and their appearance is correlated with differentiation status.

First Paragraph - | Full Text - Large histone H3 lysine 9 dimethylated chromatin blocks distinguish differentiated from embryonic stem cells | PDF (590 KB) - Large histone H3 lysine 9 dimethylated chromatin blocks distinguish differentiated from embryonic stem cells | Supplementary information

Experimental evolution reveals natural selection on standing genetic variation - pp251 - 257

Henrique Teotónio, Ivo M Chelo, Martina Bradi, Michael R Rose & Anthony D Long

doi:10.1038/ng.289

Henrique Teotónio and colleagues report a comprehensive study of the molecular population genetics of adaptation and reverse evolution in Drosophila. They conclude that adaptive reverse evolution in this context tends to occur from the sorting and recombination of standing genetic variation at multiple loci, rather than from the fixation of new mutations.

First Paragraph - | Full Text - Experimental evolution reveals natural selection on standing genetic variation | PDF (584 KB) - Experimental evolution reveals natural selection on standing genetic variation | Supplementary information

See also: News and Views by Desai

A transcriptome atlas of rice cell types uncovers cellular, functional and developmental hierarchies - pp258 - 263

Yuling Jiao, S Lori Tausta, Neeru Gandotra, Ning Sun, Tie Liu, Nicole K Clay, Teresa Ceserani, Meiqin Chen, Ligeng Ma, Matthew Holford, Hui-yong Zhang, Hongyu Zhao, Xing-Wang Deng & Timothy Nelson

doi:10.1038/ng.282

Timothy Nelson and colleagues present a transcriptome atlas of 40 key cell types from rice (Oryza sativa). The atlas reveals previously unrecognized cellular properties, and should serve as an essential resource for functional genomic analyses of rice and other plants.

First Paragraph - | Full Text - A transcriptome atlas of rice cell types uncovers cellular, functional and developmental hierarchies | PDF (1,360 KB) - A transcriptome atlas of rice cell types uncovers cellular, functional and developmental hierarchies | Supplementary information