排序方式: 共有62条查询结果,搜索用时 15 毫秒
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Steidl C Shah SP Woolcock BW Rui L Kawahara M Farinha P Johnson NA Zhao Y Telenius A Neriah SB McPherson A Meissner B Okoye UC Diepstra A van den Berg A Sun M Leung G Jones SJ Connors JM Huntsman DG Savage KJ Rimsza LM Horsman DE Staudt LM Steidl U Marra MA Gascoyne RD 《Nature》2011,471(7338):377-381
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The grapevine genome sequence suggests ancestral hexaploidization in major angiosperm phyla 总被引:20,自引:0,他引:20
Jaillon O Aury JM Noel B Policriti A Clepet C Casagrande A Choisne N Aubourg S Vitulo N Jubin C Vezzi A Legeai F Hugueney P Dasilva C Horner D Mica E Jublot D Poulain J Bruyère C Billault A Segurens B Gouyvenoux M Ugarte E Cattonaro F Anthouard V Vico V Del Fabbro C Alaux M Di Gaspero G Dumas V Felice N Paillard S Juman I Moroldo M Scalabrin S Canaguier A Le Clainche I Malacrida G Durand E Pesole G Laucou V Chatelet P Merdinoglu D Delledonne M Pezzotti M Lecharny A Scarpelli C Artiguenave F 《Nature》2007,449(7161):463-467
The analysis of the first plant genomes provided unexpected evidence for genome duplication events in species that had previously been considered as true diploids on the basis of their genetics. These polyploidization events may have had important consequences in plant evolution, in particular for species radiation and adaptation and for the modulation of functional capacities. Here we report a high-quality draft of the genome sequence of grapevine (Vitis vinifera) obtained from a highly homozygous genotype. The draft sequence of the grapevine genome is the fourth one produced so far for flowering plants, the second for a woody species and the first for a fruit crop (cultivated for both fruit and beverage). Grapevine was selected because of its important place in the cultural heritage of humanity beginning during the Neolithic period. Several large expansions of gene families with roles in aromatic features are observed. The grapevine genome has not undergone recent genome duplication, thus enabling the discovery of ancestral traits and features of the genetic organization of flowering plants. This analysis reveals the contribution of three ancestral genomes to the grapevine haploid content. This ancestral arrangement is common to many dicotyledonous plants but is absent from the genome of rice, which is a monocotyledon. Furthermore, we explain the chronology of previously described whole-genome duplication events in the evolution of flowering plants. 相似文献
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Mutations in SEPT9 cause hereditary neuralgic amyotrophy 总被引:7,自引:0,他引:7
Kuhlenbäumer G Hannibal MC Nelis E Schirmacher A Verpoorten N Meuleman J Watts GD De Vriendt E Young P Stögbauer F Halfter H Irobi J Goossens D Del-Favero J Betz BG Hor H Kurlemann G Bird TD Airaksinen E Mononen T Serradell AP Prats JM Van Broeckhoven C De Jonghe P Timmerman V Ringelstein EB Chance PF 《Nature genetics》2005,37(10):1044-1046
Hereditary neuralgic amyotrophy (HNA) is an autosomal dominant recurrent neuropathy affecting the brachial plexus. HNA is triggered by environmental factors such as infection or parturition. We report three mutations in the gene septin 9 (SEPT9) in six families with HNA linked to chromosome 17q25. HNA is the first monogenetic disease caused by mutations in a gene of the septin family. Septins are implicated in formation of the cytoskeleton, cell division and tumorigenesis. 相似文献
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Aubin I Adams CP Opsahl S Septier D Bishop CE Auge N Salvayre R Negre-Salvayre A Goldberg M Guénet JL Poirier C 《Nature genetics》2005,37(8):803-805
The mouse mutation fragilitas ossium (fro) leads to a syndrome of severe osteogenesis and dentinogenesis imperfecta with no detectable collagen defect. Positional cloning of the locus identified a deletion in the gene encoding neutral sphingomyelin phosphodiesterase 3 (Smpd3) that led to complete loss of enzymatic activity. Our knowledge of SMPD3 function is consistent with the pathology observed in mutant mice and provides new insight into human pathologies. 相似文献
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Irobi J Van Impe K Seeman P Jordanova A Dierick I Verpoorten N Michalik A De Vriendt E Jacobs A Van Gerwen V Vennekens K Mazanec R Tournev I Hilton-Jones D Talbot K Kremensky I Van Den Bosch L Robberecht W Van Vandekerckhove J Van Broeckhoven C Gettemans J De Jonghe P Timmerman V 《Nature genetics》2004,36(6):597-601
Distal hereditary motor neuropathies are pure motor disorders of the peripheral nervous system resulting in severe atrophy and wasting of distal limb muscles. In two pedigrees with distal hereditary motor neuropathy type II linked to chromosome 12q24.3, we identified the same mutation (K141N) in small heat-shock 22-kDa protein 8 (encoded by HSPB8; also called HSP22). We found a second mutation (K141E) in two smaller families. Both mutations target the same amino acid, which is essential to the structural and functional integrity of the small heat-shock protein alphaA-crystallin. This positively charged residue, when mutated in other small heat-shock proteins, results in various human disorders. Coimmunoprecipitation experiments showed greater binding of both HSPB8 mutants to the interacting partner HSPB1. Expression of mutant HSPB8 in cultured cells promoted formation of intracellular aggregates. Our findings provide further evidence that mutations in heat-shock proteins have an important role in neurodegenerative disorders. 相似文献
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I Perrault S Hanein X Zanlonghi V Serre M Nicouleau S Defoort-Delhemmes N Delphin L Fares-Taie S Gerber O Xerri C Edelson A Goldenberg A Duncombe G Le Meur C Hamel E Silva P Nitschke P Calvas A Munnich O Roche H Dollfus J Kaplan JM Rozet 《Nature genetics》2012,44(9):975-977
In addition to its activity in nicotinamide adenine dinucleotide (NAD(+)) synthesis, the nuclear nicotinamide mononucleotide adenyltransferase NMNAT1 acts as a chaperone that protects against neuronal activity-induced degeneration. Here we report that compound heterozygous and homozygous NMNAT1 mutations cause severe neonatal neurodegeneration of the central retina and early-onset optic atrophy in 22 unrelated individuals. Their clinical presentation is consistent with Leber congenital amaurosis and suggests that the mutations affect neuroprotection of photoreceptor cells. 相似文献
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Bastie JN Aucagne R Droin N Solary E Delva L 《Cellular and molecular life sciences : CMLS》2012,69(17):2853-2861
The relatively homogenous clinical features and poor prognosis of chronic myelomonocytic leukemia (CMML) are associated with a molecular heterogeneity, with various mutations impacting several convergent pathways. Due to the restricted understanding of the mechanism involved in leukemogenesis, CMML still appears as a diagnostic and therapeutic undertaking, and poor prognosis of leukemia. Contrary to chronic myelogenous leukemia, BCR-ABL1-positive, cytogenetic, and molecular abnormalities of CMML are not specific and not pathognomonic, confirming the different levels of heterogeneity of this disease. Various mutations can be associated with a common phenotype not distinct at the clinical level, further demonstrating that molecular probings are needed for choosing individual targeted therapies. 相似文献
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Rare MTNR1B variants impairing melatonin receptor 1B function contribute to type 2 diabetes 总被引:1,自引:0,他引:1
Bonnefond A Clément N Fawcett K Yengo L Vaillant E Guillaume JL Dechaume A Payne F Roussel R Czernichow S Hercberg S Hadjadj S Balkau B Marre M Lantieri O Langenberg C Bouatia-Naji N;Meta-Analysis of Glucose Insulin-Related Traits Consortium 《Nature genetics》2012,44(3):297-301
Genome-wide association studies have revealed that common noncoding variants in MTNR1B (encoding melatonin receptor 1B, also known as MT(2)) increase type 2 diabetes (T2D) risk(1,2). Although the strongest association signal was highly significant (P < 1 × 10(-20)), its contribution to T2D risk was modest (odds ratio (OR) of ~1.10-1.15)(1-3). We performed large-scale exon resequencing in 7,632 Europeans, including 2,186 individuals with T2D, and identified 40 nonsynonymous variants, including 36 very rare variants (minor allele frequency (MAF) <0.1%), associated with T2D (OR = 3.31, 95% confidence interval (CI) = 1.78-6.18; P = 1.64 × 10(-4)). A four-tiered functional investigation of all 40 mutants revealed that 14 were non-functional and rare (MAF < 1%), and 4 were very rare with complete loss of melatonin binding and signaling capabilities. Among the very rare variants, the partial- or total-loss-of-function variants but not the neutral ones contributed to T2D (OR = 5.67, CI = 2.17-14.82; P = 4.09 × 10(-4)). Genotyping the four complete loss-of-function variants in 11,854 additional individuals revealed their association with T2D risk (8,153 individuals with T2D and 10,100 controls; OR = 3.88, CI = 1.49-10.07; P = 5.37 × 10(-3)). This study establishes a firm functional link between MTNR1B and T2D risk. 相似文献