Advance online publication
The latest research papers, published online ahead of print. These online versions are definitive and may be cited using the digital object identifier (DOI).
About advance online publicationBrief Communication
EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa
Mai M Abd El-Aziz, Isabel Barragan, Ciara A O'Driscoll, Leo Goodstadt, Elena Prigmore, Salud Borrego, Marcela Mena, Juan I Pieras, Mohamed F El-Ashry, Leen Abu Safieh, Amna Shah, Michael E Cheetham, Nigel P Carter, Christina Chakarova, Chris P Ponting, Shomi S Bhattacharya & Guillermo Antinolo
Published online: 05 October 2008; | doi:10.1038/ng.241
Shomi Bhattacharya and colleagues report the identification of six independent mutations in an ortholog of Drosophila eys in families with autosomal recessive retinitis pigmentosa from diverse ancestral origins. A phylogenetic analysis of this gene, which spans more than 2 Mb, suggests that it has a role in the modeling of retinal architecture.
Abstract - | Full Text - EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa | PDF (308 KB) - EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa | Supplementary information
Letters
Sequence variants in IL10, ARPC2 and multiple other loci contribute to ulcerative colitis susceptibility
Andre Franke, Tobias Balschun, Tom H Karlsen, Jurgita Sventoraityte, Susanna Nikolaus, Gabriele Mayr, Francisco S Domingues, Mario Albrecht, Michael Nothnagel, David Ellinghaus, Christian Sina, Clive M Onnie, Rinse K Weersma, Pieter C F Stokkers, Cisca Wijmenga, Maria Gazouli, David Strachan, Wendy L McArdle, Séverine Vermeire, Paul Rutgeerts, Philip Rosenstiel, Michael Krawczak, Morten H Vatn, the IBSEN study group, Christopher G Mathew & Stefan Schreiber
Published online: 05 October 2008; | doi:10.1038/ng.221
Stefan Schreiber and colleagues report the results of a genome-wide association study for ulcerative colitis. Variants flanking the gene encoding the cytokine IL10 are associated with increased risk of disease, as are several other loci.
First Paragraph - | Full Text - Sequence variants in IL10, ARPC2 and multiple other loci contribute to ulcerative colitis susceptibility | PDF (248 KB) - Sequence variants in IL10, ARPC2 and multiple other loci contribute to ulcerative colitis susceptibility | Supplementary information
Regulation of a remote Shh forebrain enhancer by the Six3 homeoprotein
Yongsu Jeong, Federico Coluccio Leskow, Kenia El-Jaick, Erich Roessler, Maximilian Muenke, Anastasia Yocum, Christele Dubourg, Xue Li, Xin Geng, Guillermo Oliver & Douglas J Epstein
Published online: 05 October 2008; | doi:10.1038/ng.230
Doug Epstein and colleagues present biochemical and transgenic studies implicating Six3 in the regulation of Shh forebrain expression through direct binding to a remote enhancer. The work was driven by the discovery of a rare variant in this enhancer in an individual with holoprosencephaly.
First Paragraph - | Full Text - Regulation of a remote Shh forebrain enhancer by the Six3 homeoprotein | PDF (510 KB) - Regulation of a remote Shh forebrain enhancer by the Six3 homeoprotein | Supplementary information
Disruption of an AP-2
binding site in an IRF6 enhancer is associated with cleft lip
Fedik Rahimov, Mary L Marazita, Axel Visel, Margaret E Cooper, Michael J Hitchler, Michele Rubini, Frederick E Domann, Manika Govil, Kaare Christensen, Camille Bille, Mads Melbye, Astanand Jugessur, Rolv T Lie, Allen J Wilcox, David R Fitzpatrick, Eric D Green, NISC Comparative Sequencing Program, Peter A Mossey, Julian Little, Regine P Steegers-Theunissen, Len A Pennacchio, Brian C Schutte & Jeffrey C Murray
Published online: 05 October 2008; | doi:10.1038/ng.242
Nonsyndromic cleft lip with or without cleft palate has been associated with SNPs in the IRF6 gene. Now Jeff Murray and colleagues report the identification of a common variant in a previously unknown IRF6 enhancer that shows strong evidence of association with cleft lip only and disrupts the binding site of transcription factor AP-2
.
First Paragraph - | Full Text - Disruption of an AP-2 binding site in an IRF6 enhancer is associated with cleft lip | PDF (558 KB) - Disruption of an AP-2 binding site in an IRF6 enhancer is associated with cleft lip | Supplementary information
Constitutional 11p15 abnormalities, including heritable imprinting center mutations, cause nonsyndromic Wilms tumor
Richard H Scott, Jenny Douglas, Linda Baskcomb, Nikki Huxter, Karen Barker, Sandra Hanks, Alan Craft, Mary Gerrard, Janice A Kohler, Gill A Levitt, Sue Picton, Barry Pizer, Milind D Ronghe, Denise Williams, Factors Associated with Childhood Tumours (FACT) Collaboration, Jackie A Cook, Pascal Pujol, Eamonn R Maher, Jillian M Birch, Charles A Stiller, Kathy Pritchard-Jones & Nazneen Rahman
Published online: 05 October 2008; | doi:10.1038/ng.243
Nazneen Rahman and colleagues report the identification of constitutional imprinting center mutations, epimutations and uniparental disomy in individuals with nonsyndromic Wilms tumors.
First Paragraph - | Full Text - Constitutional 11p15 abnormalities, including heritable imprinting center mutations, cause nonsyndromic Wilms tumor | PDF (313 KB) - Constitutional 11p15 abnormalities, including heritable imprinting center mutations, cause nonsyndromic Wilms tumor | Supplementary information
Genetic control of rice plant architecture under domestication
Jian Jin, Wei Huang, Ji-Ping Gao, Jun Yang, Min Shi, Mei-Zhen Zhu, Da Luo & Hong-Xuan Lin
Published online: 28 September 2008; | doi:10.1038/ng.247
Hong-Xuan Lin and colleagues report that the gene PROG1 has an important role in determining the architecture of wild rice, including tiller angle and number of tillers. PROG1 encodes a zinc-finger transcription factor, and the authors suggest that selection of an amino acid substitution in PROG1 during domestication facilitated the transition to the architecture of domesticated rice.
First Paragraph - | Full Text - Genetic control of rice plant architecture under domestication | PDF (524 KB) - Genetic control of rice plant architecture under domestication | Supplementary information
Variant between CPT1B and CHKB associated with susceptibility to narcolepsy
Taku Miyagawa, Minae Kawashima, Nao Nishida, Jun Ohashi, Ryosuke Kimura, Akihiro Fujimoto, Mihoko Shimada, Shinichi Morishita, Takashi Shigeta, Ling Lin, Seung-Chul Hong, Juliette Faraco, Yoon-Kyung Shin, Jong-Hyun Jeong, Yuji Okazaki, Shoji Tsuji, Makoto Honda, Yutaka Honda, Emmanuel Mignot & Katsushi Tokunaga
Published online: 28 September 2008; | doi:10.1038/ng.231
Katsushi Tokunaga and colleagues report the results of a genome-wide association study for narcolepsy. A variant on chromosome 22 between CPT1B and CHKB is associated with increased risk of the disorder. Both gene products have previously been linked to the physiology of sleep, making each a potential susceptibility factor.
First Paragraph - | Full Text - Variant between CPT1B and CHKB associated with susceptibility to narcolepsy | PDF (344 KB) - Variant between CPT1B and CHKB associated with susceptibility to narcolepsy | Supplementary information
Control of a key transition from prostrate to erect growth in rice domestication
Lubin Tan, Xianran Li, Fengxia Liu, Xianyou Sun, Chenggang Li, Zuofeng Zhu, Yongcai Fu, Hongwei Cai, Xiangkun Wang, Daoxin Xie & Chuanqing Sun
Published online: 28 September 2008; | doi:10.1038/ng.197
Chuanqing Sun and colleagues show that the gene PROG1, encoding a zinc-finger protein, determines the erect growth habit in rice. Sequencing of 182 varieties of cultivated rice reveals an identical mutation in the PROG1 coding region, suggesting a common origin for erect growth during rice domestication.
First Paragraph - | Full Text - Control of a key transition from prostrate to erect growth in rice domestication | PDF (682 KB) - Control of a key transition from prostrate to erect growth in rice domestication | Supplementary information
Control of rice grain-filling and yield by a gene with a potential signature of domestication
Ertao Wang, Jianjun Wang, Xudong Zhu, Wei Hao, Linyou Wang, Qun Li, Lixia Zhang, Wei He, Baorong Lu, Hongxuan Lin, Hong Ma, Guiquan Zhang & Zuhua He
Published online: 28 September 2008; | doi:10.1038/ng.220
Zuhua He and colleagues identify the gene underlying a quantitative trait locus for grain-filling in rice, which contributes to grain weight. The gene, GIF1, encodes a protein with cell-wall invertase activity and may have been under selection during rice domestication.
First Paragraph - | Full Text - Control of rice grain-filling and yield by a gene with a potential signature of domestication | PDF (507 KB) - Control of rice grain-filling and yield by a gene with a potential signature of domestication | Supplementary information
Genetic variation in PNPLA3 confers susceptibility to nonalcoholic fatty liver disease
Stefano Romeo, Julia Kozlitina, Chao Xing, Alexander Pertsemlidis, David Cox, Len A Pennacchio, Eric Boerwinkle, Jonathan C Cohen & Helen H Hobbs
Published online: 25 September 2008; | doi:10.1038/ng.257
Helen Hobbs and colleagues report an association between coding variation in PNPLA3 and susceptibility to nonalcoholic fatty liver disease. The associated alleles vary in frequency among Hispanics, African Americans and European Americans and contribute to differences in disease prevalence among these ancestry groups.
First Paragraph - | Full Text - Genetic variation in PNPLA3 confers susceptibility to nonalcoholic fatty liver disease | PDF (388 KB) - Genetic variation in PNPLA3 confers susceptibility to nonalcoholic fatty liver disease | Supplementary information
Sequence variant on 8q24 confers susceptibility to urinary bladder cancer
Lambertus A Kiemeney, Steinunn Thorlacius, Patrick Sulem, Frank Geller, Katja K H Aben, Simon N Stacey, Julius Gudmundsson, Margret Jakobsdottir, Jon T Bergthorsson, Asgeir Sigurdsson, Thorarinn Blondal, J Alfred Witjes, Sita H Vermeulen, Christina A Hulsbergen-van de Kaa, Dorine W Swinkels, Martine Ploeg, Erik B Cornel, Henk Vergunst, Thorgeir E Thorgeirsson, Daniel Gudbjartsson, Sigurjon A Gudjonsson, Gudmar Thorleifsson, Kari T Kristinsson, Magali Mouy, Steinunn Snorradottir, Donatella Placidi, Marcello Campagna, Cecilia Arici, Kvetoslava Koppova, Eugene Gurzau, Peter Rudnai, Eliane Kellen, Silvia Polidoro, Simonetta Guarrera, Carlotta Sacerdote, Manuel Sanchez, Berta Saez, Gabriel Valdivia, Charlotta Ryk, Petra de Verdier, Annika Lindblom, Klaus Golka, D Timothy Bishop, Margaret A Knowles, Sigfus Nikulasson, Vigdis Petursdottir, Eirikur Jonsson, Gudmundur Geirsson, Baldvin Kristjansson, Jose I Mayordomo, Gunnar Steineck, Stefano Porru, Frank Buntinx, Maurice P Zeegers, Tony Fletcher, Rajiv Kumar, Giuseppe Matullo, Paolo Vineis, Anne E Kiltie, Jeffrey R Gulcher, Unnur Thorsteinsdottir, Augustine Kong, Thorunn Rafnar & Kari Stefansson
Published online: 14 September 2008; | doi:10.1038/ng.229
Kari Stefansson and colleagues report results of a genome-wide association study for urinary bladder cancer. The strongest association was with a variant on 8q24, located 30 kb upstream of MYC in a haplotype block distinct from previously reported 8q24 cancer risk variants.
First Paragraph - | Full Text - Sequence variant on 8q24 confers susceptibility to urinary bladder cancer | PDF (266 KB) - Sequence variant on 8q24 confers susceptibility to urinary bladder cancer | Supplementary information
Until print versions of AOP papers are published, they should be cited in the style "Author(s) Nature Genetics advance online publication, day month year (doi:10.1038/ngXXXXX)". Once the print version (identical to the AOP) is published, it should be cited as follows: "Author(s) Nature Genetics volume, page (year); advance online publication, (doi:10.1038/ngXXXXX)".
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