The cup half empty - p635

doi:10.1038/ng0609-635

One-sixth of the world's population does not have enough food to sustain life, and the world's food supply needs to double by 2050 without increasing demand for water or fuel. Agricultural genetics is one of the easier parts of the solution.

Abstract - | Full Text - The cup half empty | PDF (131 KB) - The cup half empty

Genetics of reproductive lifespan - pp637 - 638

Patricia Hartge

doi:10.1038/ng0609-637

Five genome-wide association studies of the timing of menarche and menopause have now taken us beyond the range of candidate gene and linkage studies. The list of new genetic associations identified for these two traits should shed light on the mechanisms of ovarian aging, as well as breast cancer and other diseases associated with reproductive lifespan.

Abstract - | Full Text - Genetics of reproductive lifespan | PDF (164 KB) - Genetics of reproductive lifespan

See also: Brief Communication by Stolk et al. | Brief Communication by Perry et al. | Letter by He et al. | Letter by Ong et al. | Letter by Sulem et al.

Diversifying microtubules in brain development - pp638 - 640

Andrew P Jackson

doi:10.1038/ng0609-638

Tubulins are key structural components of all cells. A new study reveals roles in brain development for a specific -tubulin isoform and highlights potential for functional diversity in the -tubulin gene family.

Abstract - | Full Text - Diversifying microtubules in brain development | PDF (824 KB) - Diversifying microtubules in brain development

See also: Letter by Jaglin et al.

Narcolepsy and the T-cell receptor - pp640 - 641

Timothy J Vyse

doi:10.1038/ng0609-640

The etiology of the sleep disorder narcolepsy has not been firmly established, although an autoimmune pathogenesis has been proposed and is supported by a strong genetic association with the HLA. A new genome-wide association study provides further support for the autoimmune basis of narcolepsy by uncovering a robust association at the T-cell receptor alpha locus.

Abstract - | Full Text - Narcolepsy and the T-cell receptor | PDF (164 KB) - Narcolepsy and the T-cell receptor

See also: Letter by Hallmayer et al.

Research highlights - p642

doi:10.1038/ng0609-642

Full Text - Research highlights | PDF (115 KB) - Research highlights

Loci at chromosomes 13, 19 and 20 influence age at natural menopause - pp645 - 647

Lisette Stolk, Guangju Zhai, Joyce B J van Meurs, Michael M P J Verbiest, Jenny A Visser, Karol Estrada, Fernando Rivadeneira, Frances M Williams, Lynn Cherkas, Panos Deloukas, Nicole Soranzo, Jules J de Keyzer, Victor J M Pop, Paul Lips, Corinne E I Lebrun, Yvonne T van der Schouw, Diederick E Grobbee, Jacqueline Witteman, Albert Hofman, Huibert A P Pols, Joop S E Laven, Tim D Spector & André G Uitterlinden

doi:10.1038/ng.387

André Uitterlinden and colleagues report a genome-wide association study for age at natural menopause, from the Rotterdam Study and TwinsUK, with replication in additional cohorts. They report three loci associated with age at natural menopause, which is a known risk factor for several cancers, osteoporosis and cardiovascular disease.

Abstract - | Full Text - Loci at chromosomes 13, 19 and 20 influence age at natural menopause | PDF (212 KB) - Loci at chromosomes 13, 19 and 20 influence age at natural menopause | Supplementary information

See also: News and Views by Hartge | Brief Communication by Perry et al. | Letter by He et al. | Letter by Ong et al. | Letter by Sulem et al.

Meta-analysis of genome-wide association data identifies two loci influencing age at menarche - pp648 - 650

John R B Perry, Lisette Stolk, Nora Franceschini, Kathryn L Lunetta, Guangju Zhai, Patrick F McArdle, Albert V Smith, Thor Aspelund, Stefania Bandinelli, Eric Boerwinkle, Lynn Cherkas, Gudny Eiriksdottir, Karol Estrada, Luigi Ferrucci, Aaron R Folsom, Melissa Garcia, Vilmundur Gudnason, Albert Hofman, David Karasik, Douglas P Kiel, Lenore J Launer, Joyce van Meurs, Michael A Nalls, Fernando Rivadeneira, Alan R Shuldiner, Andrew Singleton, Nicole Soranzo, Toshiko Tanaka, Jenny A Visser, Michael N Weedon, Scott G Wilson, Vivian Zhuang, Elizabeth A Streeten, Tamara B Harris, Anna Murray, Tim D Spector, Ellen W Demerath, André G Uitterlinden & Joanne M Murabito

doi:10.1038/ng.386

André Uitterlinden and colleagues report loci at 9q31.2 and LIN28B associated with age at menarche from a meta-analysis of genome-wide association studies including 17,510 females from eight different population-based cohorts.

Abstract - | Full Text - Meta-analysis of genome-wide association data identifies two loci influencing age at menarche | PDF (256 KB) - Meta-analysis of genome-wide association data identifies two loci influencing age at menarche | Supplementary information

See also: News and Views by Hartge | Brief Communication by Stolk et al. | Letter by He et al. | Letter by Ong et al. | Letter by Sulem et al.

Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia - pp651 - 653

Duane L Guernsey, Haiyan Jiang, Dean R Campagna, Susan C Evans, Meghan Ferguson, Mark D Kellogg, Mathieu Lachance, Makoto Matsuoka, Mathew Nightingale, Andrea Rideout, Louis Saint-Amant, Paul J Schmidt, Andrew Orr, Sylvia S Bottomley, Mark D Fleming, Mark Ludman, Sarah Dyack, Conrad V Fernandez & Mark E Samuels

doi:10.1038/ng.359

Mark Samuels and colleagues report the identification of mutations in mitochondrial carrier family member SLC25A38 in nonsyndromic autosomal recessive congenital sideroblastic anemia.

Abstract - | Full Text - Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia | PDF (237 KB) - Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia | Supplementary information

SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy - pp654 - 656

Daniele Ghezzi, Paola Goffrini, Graziella Uziel, Rita Horvath, Thomas Klopstock, Hanns Lochmüller, Pio D'Adamo, Paolo Gasparini, Tim M Strom, Holger Prokisch, Federica Invernizzi, Ileana Ferrero & Massimo Zeviani

doi:10.1038/ng.378

Massimo Zeviani and colleagues identify a factor, called SDHAF1, required for assembly of the mitochondrial succinate dehydrogenase ubiquinone reductase complex by conducting a genetic analysis of two families segregating a rare, progressive leukoencephalopathy.

Abstract - | Full Text - SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy | PDF (281 KB) - SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy | Supplementary information

Genome-wide and fine-resolution association analysis of malaria in West Africa - pp657 - 665

Muminatou Jallow, Yik Ying Teo, Kerrin S Small, Kirk A Rockett, Panos Deloukas, Taane G Clark, Katja Kivinen, Kalifa A Bojang, David J Conway, Margaret Pinder, Giorgio Sirugo, Fatou Sisay-Joof, Stanley Usen, Sarah Auburn, Suzannah J Bumpstead, Susana Campino, Alison Coffey, Andrew Dunham, Andrew E Fry, Angela Green, Rhian Gwilliam, Sarah E Hunt, Michael Inouye, Anna E Jeffreys, Alieu Mendy, Aarno Palotie, Simon Potter, Jiannis Ragoussis, Jane Rogers, Kate Rowlands, Elilan Somaskantharajah, Pamela Whittaker, Claire Widden, Peter Donnelly, Bryan Howie, Jonathan Marchini, Andrew Morris, Miguel SanJoaquin, Eric Akum Achidi, Tsiri Agbenyega, Angela Allen, Olukemi Amodu, Patrick Corran, Abdoulaye Djimde, Amagana Dolo, Ogobara K Doumbo, Chris Drakeley, Sarah Dunstan, Jennifer Evans, Jeremy Farrar, Deepika Fernando, Tran Tinh Hien, Rolf D Horstmann, Muntaser Ibrahim, Nadira Karunaweera, Gilbert Kokwaro, Kwadwo A Koram, Martha Lemnge, Julie Makani, Kevin Marsh, Pascal Michon, David Modiano, Malcolm E Molyneux, Ivo Mueller, Michael Parker, Norbert Peshu, Christopher V Plowe, Odile Puijalon, John Reeder, Hugh Reyburn, Eleanor M Riley, Anavaj Sakuntabhai, Pratap Singhasivanon, Sodiomon Sirima, Adama Tall, Terrie E Taylor, Mahamadou Thera, Marita Troye-Blomberg, Thomas N Williams, Michael Wilson, Dominic P Kwiatkowski, Wellcome Trust Case Control Consortium & Malaria Genomic Epidemiology Network

doi:10.1038/ng.388

Dominic Kwiatkowski and colleagues of the MalariaGEN and the WTCCC consortiums report a genome-wide analysis of severe malaria in The Gambia. They provide guidance for design of GWAS in African populations, and demonstrate the usefulness of multipoint imputation based on population-specific sequencing data.

Abstract - | Full Text - Genome-wide and fine-resolution association analysis of malaria in West Africa | PDF (1,925 KB) - Genome-wide and fine-resolution association analysis of malaria in West Africa | Supplementary information

Genome-wide association study identifies eight loci associated with blood pressure - pp666 - 676

Christopher Newton-Cheh, Toby Johnson, Vesela Gateva, Martin D Tobin, Murielle Bochud, Lachlan Coin, Samer S Najjar, Jing Hua Zhao, Simon C Heath, Susana Eyheramendy, Konstantinos Papadakis, Benjamin F Voight, Laura J Scott, Feng Zhang, Martin Farrall, Toshiko Tanaka, Chris Wallace, John C Chambers, Kay-Tee Khaw, Peter Nilsson, Pim van der Harst, Silvia Polidoro, Diederick E Grobbee, N Charlotte Onland-Moret, Michiel L Bots, Louise V Wain, Katherine S Elliott, Alexander Teumer, Jian'an Luan, Gavin Lucas, Johanna Kuusisto, Paul R Burton, David Hadley, Wendy L McArdle, Wellcome Trust Case Control Consortium, Morris Brown, Anna Dominiczak, Stephen J Newhouse, Nilesh J Samani, John Webster, Eleftheria Zeggini, Jacques S Beckmann, Sven Bergmann, Noha Lim, Kijoung Song, Peter Vollenweider, Gerard Waeber, Dawn M Waterworth, Xin Yuan, Leif Groop, Marju Orho-Melander, Alessandra Allione, Alessandra Di Gregorio, Simonetta Guarrera, Salvatore Panico, Fulvio Ricceri, Valeria Romanazzi, Carlotta Sacerdote, Paolo Vineis, Inês Barroso, Manjinder S Sandhu, Robert N Luben, Gabriel J Crawford, Pekka Jousilahti, Markus Perola, Michael Boehnke, Lori L Bonnycastle, Francis S Collins, Anne U Jackson, Karen L Mohlke, Heather M Stringham, Timo T Valle, Cristen J Willer, Richard N Bergman, Mario A Morken, Angela Döring, Christian Gieger, Thomas Illig, Thomas Meitinger, Elin Org, Arne Pfeufer, H Erich Wichmann, Sekar Kathiresan, Jaume Marrugat, Christopher J O'Donnell, Stephen M Schwartz, David S Siscovick, Isaac Subirana, Nelson B Freimer, Anna-Liisa Hartikainen, Mark I McCarthy, Paul F O'Reilly, Leena Peltonen, Anneli Pouta, Paul E de Jong, Harold Snieder, Wiek H van Gilst, Robert Clarke, Anuj Goel, Anders Hamsten, John F Peden, Udo Seedorf, Ann-Christine Syvänen, Giovanni Tognoni, Edward G Lakatta, Serena Sanna, Paul Scheet, David Schlessinger, Angelo Scuteri, Marcus Dörr, Florian Ernst, Stephan B Felix, Georg Homuth, Roberto Lorbeer, Thorsten Reffelmann, Rainer Rettig, Uwe Völker, Pilar Galan, Ivo G Gut, Serge Hercberg, G Mark Lathrop, Diana Zelenika, Panos Deloukas, Nicole Soranzo, Frances M Williams, Guangju Zhai, Veikko Salomaa, Markku Laakso, Roberto Elosua, Nita G Forouhi, Henry Völzke, Cuno S Uiterwaal, Yvonne T van der Schouw, Mattijs E Numans, Giuseppe Matullo, Gerjan Navis, Göran Berglund, Sheila A Bingham, Jaspal S Kooner, John M Connell, Stefania Bandinelli, Luigi Ferrucci, Hugh Watkins, Tim D Spector, Jaakko Tuomilehto, David Altshuler, David P Strachan, Maris Laan, Pierre Meneton, Nicholas J Wareham, Manuela Uda, Marjo-Riitta Jarvelin, Vincent Mooser, Olle Melander, Ruth JF Loos, Paul Elliott, Gonçalo R Abecasis, Mark Caulfield & Patricia B Munroe

doi:10.1038/ng.361

Christopher Newton-Cheh and colleagues report a genome-wide association study for blood pressure traits as part of the Global BPgen consortium. They report eight loci with replicated association to systolic and/or diastolic blood pressure, with each also showing association to hypertension.

Abstract - | Full Text - Genome-wide association study identifies eight loci associated with blood pressure | PDF (667 KB) - Genome-wide association study identifies eight loci associated with blood pressure | Supplementary information

Genome-wide association study of blood pressure and hypertension - pp677 - 687

Daniel Levy, Georg B Ehret, Kenneth Rice, Germaine C Verwoert, Lenore J Launer, Abbas Dehghan, Nicole L Glazer, Alanna C Morrison, Andrew D Johnson, Thor Aspelund, Yurii Aulchenko, Thomas Lumley, Anna Köttgen, Ramachandran S Vasan, Fernando Rivadeneira, Gudny Eiriksdottir, Xiuqing Guo, Dan E Arking, Gary F Mitchell, Francesco U S Mattace-Raso, Albert V Smith, Kent Taylor, Robert B Scharpf, Shih-Jen Hwang, Eric J G Sijbrands, Joshua Bis, Tamara B Harris, Santhi K Ganesh, Christopher J O'Donnell, Albert Hofman, Jerome I Rotter, Josef Coresh, Emelia J Benjamin, André G Uitterlinden, Gerardo Heiss, Caroline S Fox, Jacqueline C M Witteman, Eric Boerwinkle, Thomas J Wang, Vilmundur Gudnason, Martin G Larson, Aravinda Chakravarti, Bruce M Psaty & Cornelia M van Duijn

doi:10.1038/ng.384

Daniel Levy and colleagues report a meta-analysis of genome-wide association studies for blood pressure traits as part of the CHARGE consortium, reporting eight loci with replicated association to systolic and/or diastolic blood pressure, with one of these loci also associated to hypertension.

Abstract - | Full Text - Genome-wide association study of blood pressure and hypertension | PDF (702 KB) - Genome-wide association study of blood pressure and hypertension | Supplementary information

Usp46 is a quantitative trait gene regulating mouse immobile behavior in the tail suspension and forced swimming tests - pp688 - 695

Shigeru Tomida, Takayoshi Mamiya, Hirotake Sakamaki, Masami Miura, Toshihiko Aosaki, Masao Masuda, Minae Niwa, Tsutomu Kameyama, Junya Kobayashi, Yuka Iwaki, Saki Imai, Akira Ishikawa, Kuniya Abe, Takashi Yoshimura, Toshitaka Nabeshima & Shizufumi Ebihara

doi:10.1038/ng.344

Shizufumi Ebihara and colleagues report the identification of Usp46 as a quantitative trait gene underlying mouse behavior in the tail suspension and forced swimming tests, which are widely used for assessing depression-like behavior. Usp46 encodes a ubiquitin-specific peptidase.

Abstract - | Full Text - Usp46 is a quantitative trait gene regulating mouse immobile behavior in the tail suspension and forced swimming tests | PDF (641 KB) - Usp46 is a quantitative trait gene regulating mouse immobile behavior in the tail suspension and forced swimming tests | Supplementary information

Retrotransposon silencing and telomere integrity in somatic cells of Drosophila depends on the cytosine-5 methyltransferase DNMT2 - pp696 - 702

Sameer Phalke, Olaf Nickel, Diana Walluscheck, Frank Hortig, Maria Cristina Onorati & Gunter Reuter

doi:10.1038/ng.360

Gunter Reuter and colleagues show that the cytosine-5 methyltransferase DNMT2 controls retrotransposon silencing and telomere integrity in somatic cells of Drosophila.

Abstract - | Full Text - Retrotransposon silencing and telomere integrity in somatic cells of Drosophila depends on the cytosine-5 methyltransferase DNMT2 | PDF (746 KB) - Retrotransposon silencing and telomere integrity in somatic cells of Drosophila depends on the cytosine-5 methyltransferase DNMT2 | Supplementary information

Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes - pp703 - 707

Jeffrey C Barrett, David G Clayton, Patrick Concannon, Beena Akolkar, Jason D Cooper, Henry A Erlich, Cécile Julier, Grant Morahan, Jørn Nerup, Concepcion Nierras, Vincent Plagnol, Flemming Pociot, Helen Schuilenburg, Deborah J Smyth, Helen Stevens, John A Todd, Neil M Walker, Stephen S Rich & The Type 1 Diabetes Genetics Consortium

doi:10.1038/ng.381

Patrick Concannon and colleagues present a type 1 diabetes genome-wide association study and meta-analysis in 7,514 cases and 9,045 reference samples, reporting 22 newly identified loci.

First Paragraph - | Full Text - Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes | PDF (777 KB) - Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes | Supplementary information

Narcolepsy is strongly associated with the T-cell receptor alpha locus - pp708 - 711

Joachim Hallmayer, Juliette Faraco, Ling Lin, Stephanie Hesselson, Juliane Winkelmann, Minae Kawashima, Geert Mayer, Giuseppe Plazzi, Sona Nevsimalova, Patrice Bourgin, Sheng Seung-Chul Hong, Yutaka Honda, Makoto Honda, Birgit Högl, William T Longstreth Jr, Jacques Montplaisir, David Kemlink, Mali Einen, Justin Chen, Stacy L Musone, Matthew Akana, Taku Miyagawa, Jubao Duan, Alex Desautels, Christine Erhardt, Per Egil Hesla, Francesca Poli, Birgit Frauscher, Jong-Hyun Jeong, Sung-Pil Lee, Thanh G N Ton, Mark Kvale, Libor Kolesar, Marie Dobrovolná, Gerald T Nepom, Dan Salomon, H-Erich Wichmann, Guy A Rouleau, Christian Gieger, Douglas F Levinson, Pablo V Gejman, Thomas Meitinger, Terry Young, Paul Peppard, Katsushi Tokunaga, Pui-Yan Kwok, Neil Risch & Emmanuel Mignot

doi:10.1038/ng.372

Emmanuel Mignot and colleagues report that variants in the T-cell receptor alpha (TRA@) locus are strongly associated with narcolepsy. This is the first documented involvement of the TCR locus in human disease and will shed light on how HLA-TCR interactions contribute to organ-specific autoimmune targeting.

First Paragraph - | Full Text - Narcolepsy is strongly associated with the T-cell receptor alpha locus | PDF (247 KB) - Narcolepsy is strongly associated with the T-cell receptor alpha locus | Supplementary information

See also: News and Views by Vyse

Multiple loci associated with indices of renal function and chronic kidney disease - pp712 - 717

Anna Köttgen, Nicole L Glazer, Abbas Dehghan, Shih-Jen Hwang, Ronit Katz, Man Li, Qiong Yang, Vilmundur Gudnason, Lenore J Launer, Tamara B Harris, Albert V Smith, Dan E Arking, Brad C Astor, Eric Boerwinkle, Georg B Ehret, Ingo Ruczinski, Robert B Scharpf, Yii-Der Ida Chen, Ian H de Boer, Talin Haritunians, Thomas Lumley, Mark Sarnak, David Siscovick, Emelia J Benjamin, Daniel Levy, Ashish Upadhyay, Yurii S Aulchenko, Albert Hofman, Fernando Rivadeneira, André G Uitterlinden, Cornelia M van Duijn, Daniel I Chasman, Guillaume Paré, Paul M Ridker, W H Linda Kao, Jacqueline C Witteman, Josef Coresh, Michael G Shlipak & Caroline S Fox

doi:10.1038/ng.377

Caroline Fox and colleagues report results of a genome-wide association study to identify common variants associated with indices of renal function. They show that variants at UMOD, a gene previously implicated in rare monogenic forms of kidney disease, are associated with risk of chronic kidney disease in the general population.

First Paragraph - | Full Text - Multiple loci associated with indices of renal function and chronic kidney disease | PDF (455 KB) - Multiple loci associated with indices of renal function and chronic kidney disease | Supplementary information

Common variations in BARD1 influence susceptibility to high-risk neuroblastoma - pp718 - 723

Mario Capasso, Marcella Devoto, Cuiping Hou, Shahab Asgharzadeh, Joseph T Glessner, Edward F Attiyeh, Yael P Mosse, Cecilia Kim, Sharon J Diskin, Kristina A Cole, Kristopher Bosse, Maura Diamond, Marci Laudenslager, Cynthia Winter, Jonathan P Bradfield, Richard H Scott, Jayanti Jagannathan, Maria Garris, Carmel McConville, Wendy B London, Robert C Seeger, Struan F A Grant, Hongzhe Li, Nazneen Rahman, Eric Rappaport, Hakon Hakonarson & John M Maris

doi:10.1038/ng.374

John Maris and colleagues report results of a genome-wide association and replication study for aggressive neuroblastoma. They show that common variants in the BARD1 locus at 2q35 are strongly associated with the disease.

First Paragraph - | Full Text - Common variations in BARD1 influence susceptibility to high-risk neuroblastoma | PDF (388 KB) - Common variations in BARD1 influence susceptibility to high-risk neuroblastoma | Supplementary information

Genome-wide association studies identify loci associated with age at menarche and age at natural menopause - pp724 - 728

Chunyan He, Peter Kraft, Constance Chen, Julie E Buring, Guillaume Paré, Susan E Hankinson, Stephen J Chanock, Paul M Ridker, David J Hunter & Daniel I Chasman

doi:10.1038/ng.385

Chunyan He and colleagues report genome-wide association studies for both age at menarche and age at natural menopause from the Nurses Health Study and the Women's Genome Health Study.

First Paragraph - | Full Text - Genome-wide association studies identify loci associated with age at menarche and age at natural menopause | PDF (417 KB) - Genome-wide association studies identify loci associated with age at menarche and age at natural menopause | Supplementary information

See also: News and Views by Hartge | Brief Communication by Stolk et al. | Brief Communication by Perry et al. | Letter by Ong et al. | Letter by Sulem et al.

Genetic variation in LIN28B is associated with the timing of puberty - pp729 - 733

Ken K Ong, Cathy E Elks, Shengxu Li, Jing Hua Zhao, Jian'an Luan, Lars B Andersen, Sheila A Bingham, Soren Brage, George Davey Smith, Ulf Ekelund, Christopher J Gillson, Beate Glaser, Jean Golding, Rebecca Hardy, Kay-Tee Khaw, Diana Kuh, Robert Luben, Michele Marcus, Michael A McGeehin, Andrew R Ness, Kate Northstone, Susan M Ring, Carol Rubin, Matthew A Sims, Kijoung Song, David P Strachan, Peter Vollenweider, Gerard Waeber, Dawn M Waterworth, Andrew Wong, Panagiotis Deloukas, Inês Barroso, Vincent Mooser, Ruth J Loos & Nicholas J Wareham

doi:10.1038/ng.382

Ken Ong and colleagues report a genome-wide association study for age at menarche. They find LIN28B associated with age at menarche, as well as several traits related to onset of puberty in both females and males.

First Paragraph - | Full Text - Genetic variation in LIN28B is associated with the timing of puberty | PDF (388 KB) - Genetic variation in LIN28B is associated with the timing of puberty | Supplementary information

See also: News and Views by Hartge | Brief Communication by Stolk et al. | Brief Communication by Perry et al. | Letter by He et al. | Letter by Sulem et al.

Genome-wide association study identifies sequence variants on 6q21 associated with age at menarche - pp734 - 738

Patrick Sulem, Daniel F Gudbjartsson, Thorunn Rafnar, Hilma Holm, Elinborg J Olafsdottir, Gudridur H Olafsdottir, Thorvaldur Jonsson, Peter Alexandersen, Bjarke Feenstra, Heather A Boyd, Katja K Aben, Andre L M Verbeek, Nel Roeleveld, Aslaug Jonasdottir, Unnur Styrkarsdottir, Valgerdur Steinthorsdottir, Ari Karason, Simon N Stacey, Julius Gudmundsson, Margret Jakobsdottir, Gudmar Thorleifsson, Gudmundur Hardarson, Jeffrey Gulcher, Augustine Kong, Lambertus A Kiemeney, Mads Melbye, Claus Christiansen, Laufey Tryggvadottir, Unnur Thorsteinsdottir & Kari Stefansson

doi:10.1038/ng.383

Patrick Sulem and colleagues report a genome-wide association study of age at menarche, finding and replicating an association with LIN28B. The authors test a number of variants previously associated with height and BMI and find that five loci previously associated with BMI are also associated with age at menarche.

First Paragraph - | Full Text - Genome-wide association study identifies sequence variants on 6q21 associated with age at menarche | PDF (388 KB) - Genome-wide association study identifies sequence variants on 6q21 associated with age at menarche | Supplementary information

See also: News and Views by Hartge | Brief Communication by Stolk et al. | Brief Communication by Perry et al. | Letter by He et al. | Letter by Ong et al.

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies - pp739 - 745

Hemant Khanna, Erica E Davis, Carlos A Murga-Zamalloa, Alejandro Estrada-Cuzcano, Irma Lopez, Anneke I den Hollander, Marijke N Zonneveld, Mohammad I Othman, Naushin Waseem, Christina F Chakarova, Cecilia Maubaret, Anna Diaz-Font, Ian MacDonald, Donna M Muzny, David A Wheeler, Margaret Morgan, Lora R Lewis, Clare V Logan, Perciliz L Tan, Michael A Beer, Chris F Inglehearn, Richard A Lewis, Samuel G Jacobson, Carsten Bergmann, Philip L Beales, Tania Attié-Bitach, Colin A Johnson, Edgar A Otto, Shomi S Bhattacharya, Friedhelm Hildebrandt, Richard A Gibbs, Robert K Koenekoop, Anand Swaroop & Nicholas Katsanis

doi:10.1038/ng.366

Nicholas Katsanis and colleagues report that a common allele of RPGRIP1L is associated with photoreceptor loss in ciliopathies. An A229T variant in RPGRIP1L compromises binding to RPGR and modifies the retinal degeneration phenotype in ciliopathies caused by mutations in other genes.

First Paragraph - | Full Text - A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies | PDF (437 KB) - A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies | Supplementary information

Mutations in the -tubulin gene TUBB2B result in asymmetrical polymicrogyria - pp746 - 752

Xavier Hubert Jaglin, Karine Poirier, Yoann Saillour, Emmanuelle Buhler, Guoling Tian, Nadia Bahi-Buisson, Catherine Fallet-Bianco, Françoise Phan-Dinh-Tuy, Xiang Peng Kong, Pascale Bomont, Laëtitia Castelnau-Ptakhine, Sylvie Odent, Philippe Loget, Manoelle Kossorotoff, Irina Snoeck, Ghislaine Plessis, Philippe Parent, Cherif Beldjord, Carlos Cardoso, Alfonso Represa, Jonathan Flint, David Anthony Keays, Nicholas Justin Cowan & Jamel Chelly

doi:10.1038/ng.380

Jamel Chelly and colleagues report that de novo mutations in TUBB2B, encoding a -tubulin, are associated with asymmetrical polymicrogyria and other brain malformations. They also show that in utero knockdown of Tubb2b in rat results in defective neuronal migration.

First Paragraph - | Full Text - Mutations in the -tubulin gene TUBB2B result in asymmetrical polymicrogyria | PDF (796 KB) - Mutations in the -tubulin gene TUBB2B result in asymmetrical polymicrogyria | Supplementary information

See also: News and Views by Jackson

Molecular evolution of a novel hyperactive Sleeping Beauty transposase enables robust stable gene transfer in vertebrates - pp753 - 761

Lajos Mátés, Marinee K L Chuah, Eyayu Belay, Boris Jerchow, Namitha Manoj, Abel Acosta-Sanchez, Dawid P Grzela, Andrea Schmitt, Katja Becker, Janka Matrai, Ling Ma, Ermira Samara-Kuko, Conny Gysemans, Diana Pryputniewicz, Csaba Miskey, Bradley Fletcher, Thierry VandenDriessche, Zoltán Ivics & Zsuzsanna Izsvák

doi:10.1038/ng.343

Zsuzsanna Izsvák and colleagues report the generation of a hyperactive version of the Sleeping Beauty transposase that supports efficient and stable gene transfer into human CD34⁺ cells enriched for hematopoietic stem or progenitor cells.

Abstract - | Full Text - Molecular evolution of a novel hyperactive Sleeping Beauty transposase enables robust stable gene transfer in vertebrates | PDF (849 KB) - Molecular evolution of a novel hyperactive Sleeping Beauty transposase enables robust stable gene transfer in vertebrates | Supplementary information

Corrigendum: Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study - p762

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/ng0609-762a

Full Text - Corrigendum: Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study | PDF (92 KB) - Corrigendum: Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study

Corrigendum: Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis - p762

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/ng0609-762b

Full Text - Corrigendum: Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis | PDF (92 KB) - Corrigendum: Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis

Corrigendum: Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants - p762

Myocardial Infarction Genetics Consortium

doi:10.1038/ng0609-762c

Full Text - Corrigendum: Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants | PDF (92 KB) - Corrigendum: Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants

Addendum: Deep surveying of alternative splicing complexity in the human transcriptome by high-throughput sequencing - p762

Qun Pan, Ofer Shai, Leo J Lee, Brendan J Frey & Benjamin J Blencowe

doi:10.1038/ng0609-762d

Full Text - Addendum: Deep surveying of alternative splicing complexity in the human transcriptome by high-throughput sequencing | PDF (92 KB) - Addendum: Deep surveying of alternative splicing complexity in the human transcriptome by high-throughput sequencing