排序方式: 共有110条查询结果,搜索用时 171 毫秒
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32.
Initial sequencing and comparative analysis of the mouse genome 总被引:2,自引:0,他引:2
Mouse Genome Sequencing Consortium Waterston RH Lindblad-Toh K Birney E Rogers J Abril JF Agarwal P Agarwala R Ainscough R Alexandersson M An P Antonarakis SE Attwood J Baertsch R Bailey J Barlow K Beck S Berry E Birren B Bloom T Bork P Botcherby M Bray N Brent MR Brown DG Brown SD Bult C Burton J Butler J Campbell RD Carninci P Cawley S Chiaromonte F Chinwalla AT Church DM Clamp M Clee C Collins FS Cook LL Copley RR Coulson A Couronne O Cuff J Curwen V Cutts T Daly M David R Davies J 《Nature》2002,420(6915):520-562
The sequence of the mouse genome is a key informational tool for understanding the contents of the human genome and a key experimental tool for biomedical research. Here, we report the results of an international collaboration to produce a high-quality draft sequence of the mouse genome. We also present an initial comparative analysis of the mouse and human genomes, describing some of the insights that can be gleaned from the two sequences. We discuss topics including the analysis of the evolutionary forces shaping the size, structure and sequence of the genomes; the conservation of large-scale synteny across most of the genomes; the much lower extent of sequence orthology covering less than half of the genomes; the proportions of the genomes under selection; the number of protein-coding genes; the expansion of gene families related to reproduction and immunity; the evolution of proteins; and the identification of intraspecies polymorphism. 相似文献
33.
Glöckner G Eichinger L Szafranski K Pachebat JA Bankier AT Dear PH Lehmann R Baumgart C Parra G Abril JF Guigó R Kumpf K Tunggal B Cox E Quail MA Platzer M Rosenthal A Noegel AA;Dictyostelium Genome Sequencing Consortium 《Nature》2002,418(6893):79-85
The genome of the lower eukaryote Dictyostelium discoideum comprises six chromosomes. Here we report the sequence of the largest, chromosome 2, which at 8 megabases (Mb) represents about 25% of the genome. Despite an A + T content of nearly 80%, the chromosome codes for 2,799 predicted protein coding genes and 73 transfer RNA genes. This gene density, about 1 gene per 2.6 kilobases (kb), is surpassed only by Saccharomyces cerevisiae (one per 2 kb) and is similar to that of Schizosaccharomyces pombe (one per 2.5 kb). If we assume that the other chromosomes have a similar gene density, we can expect around 11,000 genes in the D. discoideum genome. A significant number of the genes show higher similarities to genes of vertebrates than to those of other fully sequenced eukaryotes. This analysis strengthens the view that the evolutionary position of D. discoideum is located before the branching of metazoa and fungi but after the divergence of the plant kingdom, placing it close to the base of metazoan evolution. 相似文献
34.
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis 总被引:1,自引:0,他引:1
International Multiple Sclerosis Genetics Consortium;Wellcome Trust Case Control Consortium Sawcer S Hellenthal G Pirinen M Spencer CC Patsopoulos NA Moutsianas L Dilthey A Su Z Freeman C Hunt SE Edkins S Gray E Booth DR Potter SC Goris A Band G Oturai AB Strange A Saarela J Bellenguez C Fontaine B Gillman M Hemmer B Gwilliam R Zipp F Jayakumar A Martin R Leslie S Hawkins S Giannoulatou E D'alfonso S Blackburn H Martinelli Boneschi F Liddle J Harbo HF Perez ML Spurkland A Waller MJ Mycko MP 《Nature》2011,476(7359):214-219
Multiple sclerosis is a common disease of the central nervous system in which the interplay between inflammatory and neurodegenerative processes typically results in intermittent neurological disturbance followed by progressive accumulation of disability. Epidemiological studies have shown that genetic factors are primarily responsible for the substantially increased frequency of the disease seen in the relatives of affected individuals, and systematic attempts to identify linkage in multiplex families have confirmed that variation within the major histocompatibility complex (MHC) exerts the greatest individual effect on risk. Modestly powered genome-wide association studies (GWAS) have enabled more than 20 additional risk loci to be identified and have shown that multiple variants exerting modest individual effects have a key role in disease susceptibility. Most of the genetic architecture underlying susceptibility to the disease remains to be defined and is anticipated to require the analysis of sample sizes that are beyond the numbers currently available to individual research groups. In a collaborative GWAS involving 9,772 cases of European descent collected by 23 research groups working in 15 different countries, we have replicated almost all of the previously suggested associations and identified at least a further 29 novel susceptibility loci. Within the MHC we have refined the identity of the HLA-DRB1 risk alleles and confirmed that variation in the HLA-A gene underlies the independent protective effect attributable to the class I region. Immunologically relevant genes are significantly overrepresented among those mapping close to the identified loci and particularly implicate T-helper-cell differentiation in the pathogenesis of multiple sclerosis. 相似文献
35.
There has been much progress in genomics in the ten years since a draft sequence of the human genome was published. Opportunities for understanding health and disease are now unprecedented, as advances in genomics are harnessed to obtain robust foundational knowledge about the structure and function of the human genome and about the genetic contributions to human health and disease. Here we articulate a 2011 vision for the future of genomics research and describe the path towards an era of genomic medicine. 相似文献
36.
King N Westbrook MJ Young SL Kuo A Abedin M Chapman J Fairclough S Hellsten U Isogai Y Letunic I Marr M Pincus D Putnam N Rokas A Wright KJ Zuzow R Dirks W Good M Goodstein D Lemons D Li W Lyons JB Morris A Nichols S Richter DJ Salamov A Sequencing JG Bork P Lim WA Manning G Miller WT McGinnis W Shapiro H Tjian R Grigoriev IV Rokhsar D 《Nature》2008,451(7180):783-788
Choanoflagellates are the closest known relatives of metazoans. To discover potential molecular mechanisms underlying the evolution of metazoan multicellularity, we sequenced and analysed the genome of the unicellular choanoflagellate Monosiga brevicollis. The genome contains approximately 9,200 intron-rich genes, including a number that encode cell adhesion and signalling protein domains that are otherwise restricted to metazoans. Here we show that the physical linkages among protein domains often differ between M. brevicollis and metazoans, suggesting that abundant domain shuffling followed the separation of the choanoflagellate and metazoan lineages. The completion of the M. brevicollis genome allows us to reconstruct with increasing resolution the genomic changes that accompanied the origin of metazoans. 相似文献
37.
新甲型H1N1流感病毒血凝素基因(HA)突变网络结构 总被引:1,自引:0,他引:1
流感研究上海协作组 何云刚 丁国徽 边超 黄忠 蓝柯 孙兵 王学才 李亦学 王红艳 王小宁 杨忠 钟扬 金维荣 熊慧 戴建新 郭亚军 王皓 车小燕 吴凡 袁政安 张曦 曹志伟 周晓农 周佳海 马志永 童光志 赵国屏 金力 《科学通报》2009,54(12):1645-1647
构建了新甲型H1N1流感病毒血凝素基因的变异网络图. 同源性比对表明, 来自墨西哥的一个病毒序列类型为此次新流感病毒的原始序列类型. 通过血凝素基因658A和1408T突变可将此新流感病毒序列分为墨西哥类型、过渡类型和纽约类型3个主要类型. 这3个类型在地理分布上具有明显差别. 相似文献
38.
Jones FC Grabherr MG Chan YF Russell P Mauceli E Johnson J Swofford R Pirun M Zody MC White S Birney E Searle S Schmutz J Grimwood J Dickson MC Myers RM Miller CT Summers BR Knecht AK Brady SD Zhang H Pollen AA Howes T Amemiya C;Broad Institute Genome Sequencing Platform & Whole Genome Assembly Team Baldwin J Bloom T Jaffe DB Nicol R Wilkinson J Lander ES Di Palma F Lindblad-Toh K Kingsley DM 《Nature》2012,484(7392):55-61
Marine stickleback fish have colonized and adapted to thousands of streams and lakes formed since the last ice age, providing an exceptional opportunity to characterize genomic mechanisms underlying repeated ecological adaptation in nature. Here we develop a high-quality reference genome assembly for threespine sticklebacks. By sequencing the genomes of twenty additional individuals from a global set of marine and freshwater populations, we identify a genome-wide set of loci that are consistently associated with marine-freshwater divergence. Our results indicate that reuse of globally shared standing genetic variation, including chromosomal inversions, has an important role in repeated evolution of distinct marine and freshwater sticklebacks, and in the maintenance of divergent ecotypes during early stages of reproductive isolation. Both coding and regulatory changes occur in the set of loci underlying marine-freshwater evolution, but regulatory changes appear to predominate in this well known example of repeated adaptive evolution in nature. 相似文献
39.
Y Okada X Sim MJ Go JY Wu D Gu F Takeuchi A Takahashi S Maeda T Tsunoda P Chen SC Lim TY Wong J Liu TL Young T Aung M Seielstad YY Teo YJ Kim JY Lee BG Han D Kang CH Chen FJ Tsai LC Chang SJ Fann H Mei DC Rao JE Hixson S Chen T Katsuya M Isono T Ogihara JC Chambers W Zhang JS Kooner;KidneyGen Consortium;CKDGen Consortium E Albrecht;GUGC consortium K Yamamoto M Kubo Y Nakamura N Kamatani N Kato J He YT Chen YS Cho ES Tai T Tanaka 《Nature genetics》2012,44(8):904-909
Chronic kidney disease (CKD), impairment of kidney function, is a serious public health problem, and the assessment of genetic factors influencing kidney function has substantial clinical relevance. Here, we report a meta-analysis of genome-wide association studies for kidney function-related traits, including 71,149 east Asian individuals from 18 studies in 11 population-, hospital- or family-based cohorts, conducted as part of the Asian Genetic Epidemiology Network (AGEN). Our meta-analysis identified 17 loci newly associated with kidney function-related traits, including the concentrations of blood urea nitrogen, uric acid and serum creatinine and estimated glomerular filtration rate based on serum creatinine levels (eGFRcrea) (P < 5.0 × 10(-8)). We further examined these loci with in silico replication in individuals of European ancestry from the KidneyGen, CKDGen and GUGC consortia, including a combined total of ~110,347 individuals. We identify pleiotropic associations among these loci with kidney function-related traits and risk of CKD. These findings provide new insights into the genetics of kidney function. 相似文献
40.
Small KS Hedman AK Grundberg E Nica AC Thorleifsson G Kong A Thorsteindottir U Shin SY Richards HB;GIANT Consortium;MAGIC Investigators;DIAGRAM Consortium Soranzo N Ahmadi KR Lindgren CM Stefansson K Dermitzakis ET Deloukas P Spector TD McCarthy MI;MuTHER Consortium 《Nature genetics》2011,43(6):561-564