Evidence for genomic rearrangements mediated by human endogenous retroviruses during primate evolution.

abstract：:Therapeutic cloning, whereby somatic cell nuclear transfer (SCNT) is used to generate patient-specific embryonic stem cells (ESCs) from blastocysts cloned by nuclear transfer (ntESCs), holds great promise for the treatment of many human diseases. ntESCs have been derived in mice and cattle, but thus far there are no c...

journal_title：Nature genetics

authors： Yang X,Smith SL,Tian XC,Lewin HA,Renard JP,Wakayama T

更新日期：2007-03-01 00:00:00

abstract：:A new approach for the isolation of chromosome-specific subsets from a human genomic yeast artificial chromosome (YAC) library is described. It is based on the hybridization with an Alu polymerase chain reaction (PCR) probe. We screened a 1.5 genome equivalent YAC library of megabase insert size with Alu PCR products ...

journal_title：Nature genetics

authors： Chumakov IM,Le Gall I,Billault A,Ougen P,Soularue P,Guillou S,Rigault P,Bui H,De Tand MF,Barillot E

更新日期：1992-06-01 00:00:00

abstract：:Bread wheat improvement using genomic tools is essential for accelerating trait genetic gains. Here we report the genomic predictabilities of 35 key traits and demonstrate the potential of genomic selection for wheat end-use quality. We also performed a large genome-wide association study that identified several signi...

journal_title：Nature genetics

authors： Juliana P,Poland J,Huerta-Espino J,Shrestha S,Crossa J,Crespo-Herrera L,Toledo FH,Govindan V,Mondal S,Kumar U,Bhavani S,Singh PK,Randhawa MS,He X,Guzman C,Dreisigacker S,Rouse MN,Jin Y,Pérez-Rodríguez P,Montesinos-L

更新日期：2019-10-01 00:00:00

abstract：:We report full-length draft de novo genome assemblies for 16 widely used inbred mouse strains and find extensive strain-specific haplotype variation. We identify and characterize 2,567 regions on the current mouse reference genome exhibiting the greatest sequence diversity. These regions are enriched for genes involve...

journal_title：Nature genetics

authors： Lilue J,Doran AG,Fiddes IT,Abrudan M,Armstrong J,Bennett R,Chow W,Collins J,Collins S,Czechanski A,Danecek P,Diekhans M,Dolle DD,Dunn M,Durbin R,Earl D,Ferguson-Smith A,Flicek P,Flint J,Frankish A,Fu B,Gerstein

更新日期：2018-11-01 00:00:00

abstract：:Pulmonary function measures reflect respiratory health and are used in the diagnosis of chronic obstructive pulmonary disease. We tested genome-wide association with forced expiratory volume in 1 second and the ratio of forced expiratory volume in 1 second to forced vital capacity in 48,201 individuals of European anc...

journal_title：Nature genetics

authors： Soler Artigas M,Loth DW,Wain LV,Gharib SA,Obeidat M,Tang W,Zhai G,Zhao JH,Smith AV,Huffman JE,Albrecht E,Jackson CM,Evans DM,Cadby G,Fornage M,Manichaikul A,Lopez LM,Johnson T,Aldrich MC,Aspelund T,Barroso I,Cam

更新日期：2011-09-25 00:00:00

abstract：:We report the 207-Mb genome sequence of the North American Arabidopsis lyrata strain MN47 based on 8.3× dideoxy sequence coverage. We predict 32,670 genes in this outcrossing species compared to the 27,025 genes in the selfing species Arabidopsis thaliana. The much smaller 125-Mb genome of A. thaliana, which diverged ...

journal_title：Nature genetics

authors： Hu TT,Pattyn P,Bakker EG,Cao J,Cheng JF,Clark RM,Fahlgren N,Fawcett JA,Grimwood J,Gundlach H,Haberer G,Hollister JD,Ossowski S,Ottilar RP,Salamov AA,Schneeberger K,Spannagl M,Wang X,Yang L,Nasrallah ME,Bergelson J

更新日期：2011-05-01 00:00:00

abstract：:Tissue and cell-type identity lie at the core of human physiology and disease. Understanding the genetic underpinnings of complex tissues and individual cell lineages is crucial for developing improved diagnostics and therapeutics. We present genome-wide functional interaction networks for 144 human tissues and cell t...

journal_title：Nature genetics

authors： Greene CS,Krishnan A,Wong AK,Ricciotti E,Zelaya RA,Himmelstein DS,Zhang R,Hartmann BM,Zaslavsky E,Sealfon SC,Chasman DI,FitzGerald GA,Dolinski K,Grosser T,Troyanskaya OG

更新日期：2015-06-01 00:00:00

abstract：:Ocular retardation (or) is a murine eye mutation causing microphthalmia, a thin hypocellular retina and optic nerve aplasia. Here we show that mice carrying the OrJ allele have a premature stop codon in the homeobox of the Chx10 gene, a gene expressed at high levels in uncommitted retinal progenitor cells and mature b...

journal_title：Nature genetics

authors： Burmeister M,Novak J,Liang MY,Basu S,Ploder L,Hawes NL,Vidgen D,Hoover F,Goldman D,Kalnins VI,Roderick TH,Taylor BA,Hankin MH,McInnes RR

更新日期：1996-04-01 00:00:00

abstract：:An amendment to this paper has been published and can be accessed via a link at the top of the paper. ...

journal_title：Nature genetics

authors： Henssen AG,Koche R,Zhuang J,Jiang E,Reed C,Eisenberg A,Still E,MacArthur IC,Rodríguez-Fos E,Gonzalez S,Puiggròs M,Blackford AN,Mason CE,de Stanchina E,Gönen M,Emde AK,Shah M,Arora K,Reeves C,Socci ND,Perlman E,A

更新日期：2020-11-01 00:00:00

abstract：:Methylation of DNA at the dinucleotide CpG is essential for mammalian development and is correlated with stable transcriptional silencing. This transcriptional silencing has recently been linked at a molecular level to histone deacetylation through the demonstration of a physical association between histone deacetylas...

journal_title：Nature genetics

authors： Wade PA,Gegonne A,Jones PL,Ballestar E,Aubry F,Wolffe AP

更新日期：1999-09-01 00:00:00

abstract：:Grain yield is controlled by quantitative trait loci (QTLs) derived from natural variations in many crop plants. Here we report the molecular characterization of a major rice grain yield QTL that acts through the determination of panicle architecture. The dominant allele at the DEP1 locus is a gain-of-function mutatio...

journal_title：Nature genetics

authors： Huang X,Qian Q,Liu Z,Sun H,He S,Luo D,Xia G,Chu C,Li J,Fu X

更新日期：2009-04-01 00:00:00

abstract：:In the version of this article originally published, one of the two authors with the name Wei Zhao was omitted from the author list and the affiliations for both authors were assigned to the single Wei Zhao in the author list. In addition, the ORCID for Wei Zhao (Department of Biostatistics and Epidemiology, Perelman ...

journal_title：Nature genetics

authors： Turcot V,Lu Y,Highland HM,Schurmann C,Justice AE,Fine RS,Bradfield JP,Esko T,Giri A,Graff M,Guo X,Hendricks AE,Karaderi T,Lempradl A,Locke AE,Mahajan A,Marouli E,Sivapalaratnam S,Young KL,Alfred T,Feitosa MF,Mas

更新日期：2018-05-01 00:00:00

abstract：:We carried out whole-genome homozygosity mapping, gene expression analysis and DNA sequencing in individuals with isolated mitochondrial ATP synthase deficiency and identified disease-causing mutations in TMEM70. Complementation of the cell lines of these individuals with wild-type TMEM70 restored biogenesis and metab...

journal_title：Nature genetics

authors： Cízková A,Stránecký V,Mayr JA,Tesarová M,Havlícková V,Paul J,Ivánek R,Kuss AW,Hansíková H,Kaplanová V,Vrbacký M,Hartmannová H,Nosková L,Honzík T,Drahota Z,Magner M,Hejzlarová K,Sperl W,Zeman J,Houstek J,Kmoch S

更新日期：2008-11-01 00:00:00

abstract：:In a recent genome-wide association study of generalized vitiligo, we identified ten confirmed susceptibility loci. By testing additional loci that showed suggestive association in the genome-wide study, using two replication cohorts of European descent, we observed replicated association of generalized vitiligo with ...

journal_title：Nature genetics

authors： Jin Y,Birlea SA,Fain PR,Mailloux CM,Riccardi SL,Gowan K,Holland PJ,Bennett DC,Wallace MR,McCormack WT,Kemp EH,Gawkrodger DJ,Weetman AP,Picardo M,Leone G,Taïeb A,Jouary T,Ezzedine K,van Geel N,Lambert J,Overbeck A

更新日期：2010-07-01 00:00:00

abstract：:Population stratification refers to differences in allele frequencies between cases and controls due to systematic differences in ancestry rather than association of genes with disease. It has been proposed that false positive associations due to stratification can be controlled by genotyping a few dozen unlinked gene...

journal_title：Nature genetics

authors： Freedman ML,Reich D,Penney KL,McDonald GJ,Mignault AA,Patterson N,Gabriel SB,Topol EJ,Smoller JW,Pato CN,Pato MT,Petryshen TL,Kolonel LN,Lander ES,Sklar P,Henderson B,Hirschhorn JN,Altshuler D

更新日期：2004-04-01 00:00:00

abstract：:Sequence variants affecting blood lipids and coronary artery disease (CAD) may enhance understanding of the atherogenicity of lipid fractions. Using a large resource of whole-genome sequence data, we examined rare and low-frequency variants for association with non-HDL cholesterol, HDL cholesterol, LDL cholesterol, an...

journal_title：Nature genetics

authors： Helgadottir A,Gretarsdottir S,Thorleifsson G,Hjartarson E,Sigurdsson A,Magnusdottir A,Jonasdottir A,Kristjansson H,Sulem P,Oddsson A,Sveinbjornsson G,Steinthorsdottir V,Rafnar T,Masson G,Jonsdottir I,Olafsson I,Eyjolfsson

更新日期：2016-06-01 00:00:00

abstract：:A genome-wide association screen for primary biliary cirrhosis risk alleles was performed in an Italian cohort. The results from the Italian cohort replicated IL12A and IL12RB associations, and a combined meta-analysis using a Canadian dataset identified newly associated loci at SPIB (P = 7.9 x 10(-11), odds ratio (OR...

journal_title：Nature genetics

authors： Liu X,Invernizzi P,Lu Y,Kosoy R,Lu Y,Bianchi I,Podda M,Xu C,Xie G,Macciardi F,Selmi C,Lupoli S,Shigeta R,Ransom M,Lleo A,Lee AT,Mason AL,Myers RP,Peltekian KM,Ghent CN,Bernuzzi F,Zuin M,Rosina F,Borghesio E

更新日期：2010-08-01 00:00:00

abstract：:CASK is a multi-domain scaffolding protein that interacts with the transcription factor TBR1 and regulates expression of genes involved in cortical development such as RELN. Here we describe a previously unreported X-linked brain malformation syndrome caused by mutations of CASK. All five affected individuals with CAS...

journal_title：Nature genetics

authors： Najm J,Horn D,Wimplinger I,Golden JA,Chizhikov VV,Sudi J,Christian SL,Ullmann R,Kuechler A,Haas CA,Flubacher A,Charnas LR,Uyanik G,Frank U,Klopocki E,Dobyns WB,Kutsche K

更新日期：2008-09-01 00:00:00

abstract：:A general question for linkage disequilibrium-based association studies is how power to detect an association is compromised when tag SNPs are chosen from data in one population sample and then deployed in another sample. Specifically, it is important to know how well tags picked from the HapMap DNA samples capture th...

journal_title：Nature genetics

authors： de Bakker PI,Burtt NP,Graham RR,Guiducci C,Yelensky R,Drake JA,Bersaglieri T,Penney KL,Butler J,Young S,Onofrio RC,Lyon HN,Stram DO,Haiman CA,Freedman ML,Zhu X,Cooper R,Groop L,Kolonel LN,Henderson BE,Daly MJ,Hi

更新日期：2006-11-01 00:00:00

abstract：:We have investigated the pathogenetic mechanism of the mitochondrial tRNA(Lys) gene mutation (position 8344) associated with MERRF encephalomyopathy in several mitochondrial DNA (mtDNA)-less cell transformants carrying the mutation and in control cells. A decrease of 50-60% in the specific tRNA(Lys) aminoacylation cap...

journal_title：Nature genetics

authors： Enriquez JA,Chomyn A,Attardi G

更新日期：1995-05-01 00:00:00

abstract：:Translocation events are frequent in cancer and may create chimeric fusions or 'regulatory rearrangements' that drive oncogene overexpression. Here we identify super-enhancer translocations that drive overexpression of the oncogenic transcription factor MYB as a recurrent theme in adenoid cystic carcinoma (ACC). Whole...

journal_title：Nature genetics

authors： Drier Y,Cotton MJ,Williamson KE,Gillespie SM,Ryan RJ,Kluk MJ,Carey CD,Rodig SJ,Sholl LM,Afrogheh AH,Faquin WC,Queimado L,Qi J,Wick MJ,El-Naggar AK,Bradner JE,Moskaluk CA,Aster JC,Knoechel B,Bernstein BE

更新日期：2016-03-01 00:00:00

abstract：:The electrocardiographic PR interval (or PQ interval) reflects atrial and atrioventricular nodal conduction, disturbances of which increase risk of atrial fibrillation. We report a meta-analysis of genome-wide association studies for PR interval from seven population-based European studies in the CHARGE Consortium: AG...

journal_title：Nature genetics

authors： Pfeufer A,van Noord C,Marciante KD,Arking DE,Larson MG,Smith AV,Tarasov KV,Müller M,Sotoodehnia N,Sinner MF,Verwoert GC,Li M,Kao WH,Köttgen A,Coresh J,Bis JC,Psaty BM,Rice K,Rotter JI,Rivadeneira F,Hofman A,Kors

更新日期：2010-02-01 00:00:00

abstract：:The role of human chromosome 2 in type 1 diabetes was evaluated by analysing linkage and linkage disequilibrium at 21 microsatellite marker loci, using 348 affected sibpair families and 107 simplex families. The microsatellite D2S152 was linked to, and associated with, disease in families from three different populati...

journal_title：Nature genetics

authors： Copeman JB,Cucca F,Hearne CM,Cornall RJ,Reed PW,Rønningen KS,Undlien DE,Nisticò L,Buzzetti R,Tosi R

更新日期：1995-01-01 00:00:00

abstract：:Charting differences between tumors and normal tissue is a mainstay of cancer research. However, clonal tumor expansion from complex normal tissue architectures potentially obscures cancer-specific events, including divergent epigenetic patterns. Using whole-genome bisulfite sequencing of normal B cell subsets, we obs...

journal_title：Nature genetics

authors： Oakes CC,Seifert M,Assenov Y,Gu L,Przekopowitz M,Ruppert AS,Wang Q,Imbusch CD,Serva A,Koser SD,Brocks D,Lipka DB,Bogatyrova O,Weichenhan D,Brors B,Rassenti L,Kipps TJ,Mertens D,Zapatka M,Lichter P,Döhner H,Küppe

更新日期：2016-03-01 00:00:00

abstract：:A new study reports molecular characterization of the GDF5 locus, which is associated with osteoarthritis risk and adult height in humans. This study provides evidence of positive selection for short stature at GDF5 in modern humans, as well as in archaic Neandertals and Denisovans. ...

journal_title：Nature genetics

authors： Lettre G

更新日期：2017-07-27 00:00:00

abstract：:Aicardi-Goutières syndrome (AGS) is an autosomal recessive neurological disorder, the clinical and immunological features of which parallel those of congenital viral infection. Here we define the composition of the human ribonuclease H2 enzyme complex and show that AGS can result from mutations in the genes encoding a...

journal_title：Nature genetics

authors： Crow YJ,Leitch A,Hayward BE,Garner A,Parmar R,Griffith E,Ali M,Semple C,Aicardi J,Babul-Hirji R,Baumann C,Baxter P,Bertini E,Chandler KE,Chitayat D,Cau D,Déry C,Fazzi E,Goizet C,King MD,Klepper J,Lacombe D,Lan

更新日期：2006-08-01 00:00:00

abstract：:Epileptic disorders affect about 20-40 million people worldwide, and 40% of these are idiopathic generalized epilepsies (IGEs; ref. 1). Most of the IGEs that are inherited are complex, multigenic diseases. To address basic mechanisms for epilepsies, we have focused on one well-defined class of IGEs with an autosomal-d...

journal_title：Nature genetics

authors： Charlier C,Singh NA,Ryan SG,Lewis TB,Reus BE,Leach RJ,Leppert M

更新日期：1998-01-01 00:00:00

abstract：:Genetic studies of complex traits have mainly identified associations with noncoding variants. To further determine the contribution of regulatory variation, we combined whole-genome and transcriptome data for 624 individuals from Sardinia to identify common and rare variants that influence gene expression and splicin...

journal_title：Nature genetics

authors： Pala M,Zappala Z,Marongiu M,Li X,Davis JR,Cusano R,Crobu F,Kukurba KR,Gloudemans MJ,Reinier F,Berutti R,Piras MG,Mulas A,Zoledziewska M,Marongiu M,Sorokin EP,Hess GT,Smith KS,Busonero F,Maschio A,Steri M,Sidore

更新日期：2017-05-01 00:00:00

abstract：:G protein-coupled receptors (GPCRs) participate in the most common signal transduction system at the plasma membrane. The wide distribution of heterotrimeric G proteins in the internal membranes suggests that a similar signalling mechanism might also be used at intracellular locations. We provide here structural evide...

journal_title：Nature genetics

authors： Schiaffino MV,d'Addio M,Alloni A,Baschirotto C,Valetti C,Cortese K,Puri C,Bassi MT,Colla C,De Luca M,Tacchetti C,Ballabio A

更新日期：1999-09-01 00:00:00

abstract：:Influenza A virus is characterized by high genetic diversity. However, most of what is known about influenza evolution has come from consensus sequences sampled at the epidemiological scale that only represent the dominant virus lineage within each infected host. Less is known about the extent of within-host virus div...

journal_title：Nature genetics

authors： Poon LL,Song T,Rosenfeld R,Lin X,Rogers MB,Zhou B,Sebra R,Halpin RA,Guan Y,Twaddle A,DePasse JV,Stockwell TB,Wentworth DE,Holmes EC,Greenbaum B,Peiris JS,Cowling BJ,Ghedin E

更新日期：2016-02-01 00:00:00