From X-rays to aging - p683

doi:10.1038/ng0608-683

The XX International Congress of Genetics is July 12–17 in Berlin, Germany.

Abstract - | Full Text - From X-rays to aging | PDF (116 KB) - From X-rays to aging

A timely guide to the genome - p684

Eric E Schadt reviews Genetic Variation: A Laboratory Manual by Michael P. Weiner

doi:10.1038/ng0608-684

Full Text - A timely guide to the genome | PDF (146 KB) - A timely guide to the genome

Molecular screening for new fusion genes in cancer - pp685 - 686

Sverre Heim & Felix Mitelman

doi:10.1038/ng0608-685

Gene fusions arising from translocations make an important contribution to the development of cancer. A new study uses high-throughput sequencing to characterize such fusions at an unprecedented level of resolution.

Abstract - | Full Text - Molecular screening for new fusion genes in cancer | PDF (527 KB) - Molecular screening for new fusion genes in cancer

See also: Article by Campbell et al.

New susceptibility genes for ulcerative colitis - pp686 - 688

Patrick C Dubois & David A van Heel

doi:10.1038/ng0608-686

Genome-wide association studies in Crohn's disease have convincingly identified multiple risk variants. Two new studies in ulcerative colitis, a related inflammatory bowel disease, now reveal a glimpse of the overlapping spectrum of risk variants, highlighting both the commonalities and the unique features of these disorders.

Abstract - | Full Text - New susceptibility genes for ulcerative colitis | PDF (210 KB) - New susceptibility genes for ulcerative colitis

See also: Brief Communication by Fisher et al. | Brief Communication by Franke et al.

Prader-Willi and snoRNAs - pp688 - 689

Jo Peters

doi:10.1038/ng0608-688

A new paper reports an individual with the major features of Prader-Willi syndrome (PWS) and a microdeletion in 15q11–q13 removing a cluster of small nucleolar RNAs (snoRNAs). This report provides virtually conclusive evidence that PWS is caused by loss of expression of the C/D box HBII-85 snoRNAs.

Abstract - | Full Text - Prader-Willi and snoRNAs | PDF (191 KB) - Prader-Willi and snoRNAs

See also: Brief Communication by Sahoo et al.

The not-so-silent X - pp689 - 690

Christine M Disteche

doi:10.1038/ng0608-689

The X chromosome has been thought to be mostly silent after meiosis in males. A new study reports that this is not the case for a set of multicopy genes often arranged in giant palindromes and highly expressed in spermatids.

Abstract - | Full Text - The not-so-silent X | PDF (192 KB) - The not-so-silent X

See also: Letter by Mueller et al.

The hippocratic finger points the blame at PGE₂ - pp691 - 692

Kenneth G Coggins, Thomas M Coffman & Beverly H Koller

doi:10.1038/ng0608-691

Digital clubbing has been recognized since the time of the ancient Greeks as a sign of systemic disease. Now, a new study identifies a role for prostaglandin E2 in the pathogenesis of digital clubbing observed in familial hypertrophic osteoarthropathy.

Abstract - | Full Text - The hippocratic finger points the blame at PGE2 | PDF (267 KB) - The hippocratic finger points the blame at PGE2

See also: Letter by Uppal et al.

Research Highlights - p693

doi:10.1038/ng0608-693

Full Text - Research Highlights | PDF (91 KB) - Research Highlights

Common and rare variants in multifactorial susceptibility to common diseases - pp695 - 701

Walter Bodmer & Carolina Bonilla

doi:10.1038/ng.f.136

Abstract - | Full Text - Common and rare variants in multifactorial susceptibility to common diseases | PDF (375 KB) - Common and rare variants in multifactorial susceptibility to common diseases | Supplementary information

Common variants on chromosome 5p12 confer susceptibility to estrogen receptor–positive breast cancer - pp703 - 706

Simon N Stacey, Andrei Manolescu, Patrick Sulem, Steinunn Thorlacius, Sigurjon A Gudjonsson, Gudbjörn F Jonsson, Margret Jakobsdottir, Jon T Bergthorsson, Julius Gudmundsson, Katja K Aben, Luc J Strobbe, Dorine W Swinkels, K C Anton van Engelenburg, Brian E Henderson, Laurence N Kolonel, Loic Le Marchand, Esther Millastre, Raquel Andres, Berta Saez, Julio Lambea, Javier Godino, Eduardo Polo, Alejandro Tres, Simone Picelli, Johanna Rantala, Sara Margolin, Thorvaldur Jonsson, Helgi Sigurdsson, Thora Jonsdottir, Jon Hrafnkelsson, Jakob Johannsson, Thorarinn Sveinsson, Gardar Myrdal, Hlynur Niels Grimsson, Steinunn G Sveinsdottir, Kristin Alexiusdottir, Jona Saemundsdottir, Asgeir Sigurdsson, Jelena Kostic, Larus Gudmundsson, Kristleifur Kristjansson, Gisli Masson, James D Fackenthal, Clement Adebamowo, Temidayo Ogundiran, Olufunmilayo I Olopade, Christopher A Haiman, Annika Lindblom, Jose I Mayordomo, Lambertus A Kiemeney, Jeffrey R Gulcher, Thorunn Rafnar, Unnur Thorsteinsdottir, Oskar T Johannsson, Augustine Kong & Kari Stefansson

doi:10.1038/ng.131

Abstract - | Full Text - Common variants on chromosome 5p12 confer susceptibility to estrogen receptor–positive breast cancer | PDF (240 KB) - Common variants on chromosome 5p12 confer susceptibility to estrogen receptor–positive breast cancer | Supplementary information

Multiple ADH genes are associated with upper aerodigestive cancers - pp707 - 709

Mia Hashibe, James D McKay, Maria Paula Curado, Jose Carlos Oliveira, Sergio Koifman, Rosalina Koifman, David Zaridze, Oxana Shangina, Victor Wünsch-Filho, Jose Eluf-Neto, Jose Eduardo Levi, Elena Matos, Pagona Lagiou, Areti Lagiou, Simone Benhamou, Christine Bouchardy, Neonilia Szeszenia-Dabrowska, Ana Menezes, Marinel Mór Dall'Agnol, Franco Merletti, Lorenzo Richiardi, Leticia Fernandez, Juan Lence, Renato Talamini, Luigi Barzan, Dana Mates, Ioan Nicolae Mates, Kristina Kjaerheim, Gary J Macfarlane, Tatiana V Macfarlane, Lorenzo Simonato, Cristina Canova, Ivana Holcátová, Antonio Agudo, Xavier Castellsagué, Ray Lowry, Vladimir Janout, Helena Kollarova, David I Conway, Patricia A McKinney, Ariana Znaor, Eleonora Fabianova, Vladimir Bencko, Jolanta Lissowska, Amelie Chabrier, Rayjean J Hung, Valerie Gaborieau, Paolo Boffetta & Paul Brennan

doi:10.1038/ng.151

Abstract - | Full Text - Multiple ADH genes are associated with upper aerodigestive cancers | PDF (202 KB) - Multiple ADH genes are associated with upper aerodigestive cancers | Supplementary information

Genetic determinants of ulcerative colitis include the ECM1 locus and five loci implicated in Crohn's disease - pp710 - 712

Sheila A Fisher, Mark Tremelling, Carl A Anderson, Rhian Gwilliam, Suzannah Bumpstead, Natalie J Prescott, Elaine R Nimmo, Dunecan Massey, Carlo Berzuini, Christopher Johnson, Jeffrey C Barrett, Fraser R Cummings, Hazel Drummond, Charlie W Lees, Clive M Onnie, Catherine E Hanson, Katarzyna Blaszczyk, Mike Inouye, Philip Ewels, Radhi Ravindrarajah, Andrew Keniry, Sarah Hunt, Martyn Carter, Nick Watkins, Willem Ouwehand, Cathryn M Lewis, Lon Cardon, the Wellcome Trust Case Control Consortium, Alan Lobo, Alastair Forbes, Jeremy Sanderson, Derek P Jewell, John C Mansfield, Panos Deloukas, Christopher G Mathew, Miles Parkes & Jack Satsangi

doi:10.1038/ng.145

Abstract - | Full Text - Genetic determinants of ulcerative colitis include the ECM1 locus and five loci implicated in Crohn's disease | PDF (195 KB) - Genetic determinants of ulcerative colitis include the ECM1 locus and five loci implicated in Crohn's disease | Supplementary information

See also: News and Views by Dubois & van Heel | Brief Communication by Franke et al.

Replication of signals from recent studies of Crohn's disease identifies previously unknown disease loci for ulcerative colitis - pp713 - 715

Andre Franke, Tobias Balschun, Tom H Karlsen, Jürgen Hedderich, Sandra May, Tim Lu, Dörthe Schuldt, Susanna Nikolaus, Philip Rosenstiel, Michael Krawczak & Stefan Schreiber

doi:10.1038/ng.148

Abstract - | Full Text - Replication of signals from recent studies of Crohn's disease identifies previously unknown disease loci for ulcerative colitis | PDF (259 KB) - Replication of signals from recent studies of Crohn's disease identifies previously unknown disease loci for ulcerative colitis | Supplementary information

See also: News and Views by Dubois & van Heel | Brief Communication by Fisher et al.

Common genetic variation near MC4R is associated with waist circumference and insulin resistance - pp716 - 718

John C Chambers, Paul Elliott, Delilah Zabaneh, Weihua Zhang, Yun Li, Philippe Froguel, David Balding, James Scott & Jaspal S Kooner

doi:10.1038/ng.156

Abstract - | Full Text - Common genetic variation near MC4R is associated with waist circumference and insulin resistance | PDF (160 KB) - Common genetic variation near MC4R is associated with waist circumference and insulin resistance | Supplementary information

Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster - pp719 - 721

Trilochan Sahoo, Daniela del Gaudio, Jennifer R German, Marwan Shinawi, Sarika U Peters, Richard E Person, Adolfo Garnica, Sau Wai Cheung & Arthur L Beaudet

doi:10.1038/ng.158

Abstract - | Full Text - Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster | PDF (332 KB) - Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster | Supplementary information

See also: News and Views by Peters

Identification of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end sequencing - pp722 - 729

Peter J Campbell, Philip J Stephens, Erin D Pleasance, Sarah O'Meara, Heng Li, Thomas Santarius, Lucy A Stebbings, Catherine Leroy, Sarah Edkins, Claire Hardy, Jon W Teague, Andrew Menzies, Ian Goodhead, Daniel J Turner, Christopher M Clee, Michael A Quail, Antony Cox, Clive Brown, Richard Durbin, Matthew E Hurles, Paul A W Edwards, Graham R Bignell, Michael R Stratton & P Andrew Futreal

doi:10.1038/ng.128

Abstract - | Full Text - Identification of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end sequencing | PDF (1,925 KB) - Identification of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end sequencing | Supplementary information

See also: News and Views by Heim & Mitelman

Genetic variation in PSCA is associated with susceptibility to diffuse-type gastric cancer - pp730 - 740

The Study Group of Millennium Genome Project for Cancer

doi:10.1038/ng.152

Abstract - | Full Text - Genetic variation in PSCA is associated with susceptibility to diffuse-type gastric cancer | PDF (787 KB) - Genetic variation in PSCA is associated with susceptibility to diffuse-type gastric cancer | Supplementary information

Gene silencing in cancer by histone H3 lysine 27 trimethylation independent of promoter DNA methylation - pp741 - 750

Yutaka Kondo, Lanlan Shen, Alfred S Cheng, Saira Ahmed, Yanis Boumber, Chantale Charo, Tadanori Yamochi, Takeshi Urano, Koichi Furukawa, Bernard Kwabi-Addo, David L Gold, Yoshitaka Sekido, Tim Hui-Ming Huang & Jean-Pierre J Issa

doi:10.1038/ng.159

Abstract - | Full Text - Gene silencing in cancer by histone H3 lysine 27 trimethylation independent of promoter DNA methylation | PDF (723 KB) - Gene silencing in cancer by histone H3 lysine 27 trimethylation independent of promoter DNA methylation | Supplementary information

Altered brain microRNA biogenesis contributes to phenotypic deficits in a 22q11-deletion mouse model - pp751 - 760

Kimberly L Stark, Bin Xu, Anindya Bagchi, Wen-Sung Lai, Hui Liu, Ruby Hsu, Xiang Wan, Paul Pavlidis, Alea A Mills, Maria Karayiorgou & Joseph A Gogos

doi:10.1038/ng.138

Abstract - | Full Text - Altered brain microRNA biogenesis contributes to phenotypic deficits in a 22q11-deletion mouse model | PDF (606 KB) - Altered brain microRNA biogenesis contributes to phenotypic deficits in a 22q11-deletion mouse model | Supplementary information

Natural variation in Ghd7 is an important regulator of heading date and yield potential in rice - pp761 - 767

Weiya Xue, Yongzhong Xing, Xiaoyu Weng, Yu Zhao, Weijiang Tang, Lei Wang, Hongju Zhou, Sibin Yu, Caiguo Xu, Xianghua Li & Qifa Zhang

doi:10.1038/ng.143

Abstract - | Full Text - Natural variation in Ghd7 is an important regulator of heading date and yield potential in rice | PDF (558 KB) - Natural variation in Ghd7 is an important regulator of heading date and yield potential in rice | Supplementary information

Common variants near MC4R are associated with fat mass, weight and risk of obesity - pp768 - 775

Ruth J F Loos, Cecilia M Lindgren, Shengxu Li, Eleanor Wheeler, Jing Hua Zhao, Inga Prokopenko, Michael Inouye, Rachel M Freathy, Antony P Attwood, Jacques S Beckmann, Sonja I Berndt, The Prostate, Lung, Colorectal, and Ovarian (PLCO) Cancer Screening Trial, Sven Bergmann, Amanda J Bennett, Sheila A Bingham, Murielle Bochud, Morris Brown, Stéphane Cauchi, John M Connell, Cyrus Cooper, George Davey Smith, Ian Day, Christian Dina, Subhajyoti De, Emmanouil T Dermitzakis, Alex S F Doney, Katherine S Elliott, Paul Elliott, David M Evans, I Sadaf Farooqi, Philippe Froguel, Jilur Ghori, Christopher J Groves, Rhian Gwilliam, David Hadley, Alistair S Hall, Andrew T Hattersley, Johannes Hebebrand, Iris M Heid, KORA, Blanca Herrera, Anke Hinney, Sarah E Hunt, Marjo-Riitta Jarvelin, Toby Johnson, Jennifer D M Jolley, Fredrik Karpe, Andrew Keniry, Kay-Tee Khaw, Robert N Luben, Massimo Mangino, Jonathan Marchini, Wendy L McArdle, Ralph McGinnis, David Meyre, Patricia B Munroe, Andrew D Morris, Andrew R Ness, Matthew J Neville, Alexandra C Nica, Ken K Ong, Stephen O'Rahilly, Katharine R Owen, Colin N A Palmer, Konstantinos Papadakis, Simon Potter, Anneli Pouta, Lu Qi, Nurses' Health Study, Joshua C Randall, Nigel W Rayner, Susan M Ring, Manjinder S Sandhu, André Scherag, Matthew A Sims, Kijoung Song, Nicole Soranzo, Elizabeth K Speliotes, Diabetes Genetics Initiative, Holly E Syddall, Sarah A Teichmann, Nicholas J Timpson, Jonathan H Tobias, Manuela Uda, The SardiNIA Study, Carla I Ganz Vogel, Chris Wallace, Dawn M Waterworth, Michael N Weedon, The Wellcome Trust Case Control Consortium, Cristen J Willer, FUSION, Vicki L Wraight, Xin Yuan, Eleftheria Zeggini, Joel N Hirschhorn, David P Strachan, Willem H Ouwehand, Mark J Caulfield, Nilesh J Samani, Timothy M Frayling, Peter Vollenweider, Gerard Waeber, Vincent Mooser, Panos Deloukas, Mark I McCarthy, Nicholas J Wareham & Inês Barroso

doi:10.1038/ng.140

First Paragraph - | Full Text - Common variants near MC4R are associated with fat mass, weight and risk of obesity | PDF (524 KB) - Common variants near MC4R are associated with fat mass, weight and risk of obesity | Supplementary information

X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment - pp776 - 781

Leanne M Dibbens, Patrick S Tarpey, Kim Hynes, Marta A Bayly, Ingrid E Scheffer, Raffaella Smith, Jamee Bomar, Edwina Sutton, Lucianne Vandeleur, Cheryl Shoubridge, Sarah Edkins, Samantha J Turner, Claire Stevens, Sarah O'Meara, Calli Tofts, Syd Barthorpe, Gemma Buck, Jennifer Cole, Kelly Halliday, David Jones, Rebecca Lee, Mark Madison, Tatiana Mironenko, Jennifer Varian, Sofie West, Sara Widaa, Paul Wray, John Teague, Ed Dicks, Adam Butler, Andrew Menzies, Andrew Jenkinson, Rebecca Shepherd, James F Gusella, Zaid Afawi, Aziz Mazarib, Miriam Y Neufeld, Sara Kivity, Dorit Lev, Tally Lerman-Sagie, Amos D Korczyn, Christopher P Derry, Grant R Sutherland, Kathryn Friend, Marie Shaw, Mark Corbett, Hyung-Goo Kim, Daniel H Geschwind, Paul Thomas, Eric Haan, Stephen Ryan, Shane McKee, Samuel F Berkovic, P Andrew Futreal, Michael R Stratton, John C Mulley & Jozef Gécz

doi:10.1038/ng.149

First Paragraph - | Full Text - X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment | PDF (955 KB) - X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment | Supplementary information

De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy - pp782 - 788

Hirotomo Saitsu, Mitsuhiro Kato, Takeshi Mizuguchi, Keisuke Hamada, Hitoshi Osaka, Jun Tohyama, Katsuhisa Uruno, Satoko Kumada, Kiyomi Nishiyama, Akira Nishimura, Ippei Okada, Yukiko Yoshimura, Syu-ichi Hirai, Tatsuro Kumada, Kiyoshi Hayasaka, Atsuo Fukuda, Kazuhiro Ogata & Naomichi Matsumoto

doi:10.1038/ng.150

First Paragraph - | Full Text - De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy | PDF (1,119 KB) - De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy | Supplementary information

Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy - pp789 - 793

Sandeep Uppal, Christine P Diggle, Ian M Carr, Colin W G Fishwick, Mushtaq Ahmed, Gamal H Ibrahim, Philip S Helliwell, Anna Latos-Bieleska, Simon E V Phillips, Alexander F Markham, Christopher P Bennett & David T Bonthron

doi:10.1038/ng.153

First Paragraph - | Full Text - Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy | PDF (521 KB) - Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy | Supplementary information

See also: News and Views by Coggins et al.

The mouse X chromosome is enriched for multicopy testis genes showing postmeiotic expression - pp794 - 799

Jacob L Mueller, Shantha K Mahadevaiah, Peter J Park, Peter E Warburton, David C Page & James M A Turner

doi:10.1038/ng.126

First Paragraph - | Full Text - The mouse X chromosome is enriched for multicopy testis genes showing postmeiotic expression | PDF (646 KB) - The mouse X chromosome is enriched for multicopy testis genes showing postmeiotic expression | Supplementary information

See also: News and Views by Disteche

Regulatory change in YABBY-like transcription factor led to evolution of extreme fruit size during tomato domestication - pp800 - 804

Bin Cong, Luz S Barrero & Steven D Tanksley

doi:10.1038/ng.144

First Paragraph - | Full Text - Regulatory change in YABBY-like transcription factor led to evolution of extreme fruit size during tomato domestication | PDF (353 KB) - Regulatory change in YABBY-like transcription factor led to evolution of extreme fruit size during tomato domestication | Supplementary information