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排序方式: 共有58条查询结果,搜索用时 15 毫秒
41.
Gardner MJ Hall N Fung E White O Berriman M Hyman RW Carlton JM Pain A Nelson KE Bowman S Paulsen IT James K Eisen JA Rutherford K Salzberg SL Craig A Kyes S Chan MS Nene V Shallom SJ Suh B Peterson J Angiuoli S Pertea M Allen J Selengut J Haft D Mather MW Vaidya AB Martin DM Fairlamb AH Fraunholz MJ Roos DS Ralph SA McFadden GI Cummings LM Subramanian GM Mungall C Venter JC Carucci DJ Hoffman SL Newbold C Davis RW Fraser CM Barrell B 《Nature》2002,419(6906):498-511
The parasite Plasmodium falciparum is responsible for hundreds of millions of cases of malaria, and kills more than one million African children annually. Here we report an analysis of the genome sequence of P. falciparum clone 3D7. The 23-megabase nuclear genome consists of 14 chromosomes, encodes about 5,300 genes, and is the most (A + T)-rich genome sequenced to date. Genes involved in antigenic variation are concentrated in the subtelomeric regions of the chromosomes. Compared to the genomes of free-living eukaryotic microbes, the genome of this intracellular parasite encodes fewer enzymes and transporters, but a large proportion of genes are devoted to immune evasion and host-parasite interactions. Many nuclear-encoded proteins are targeted to the apicoplast, an organelle involved in fatty-acid and isoprenoid metabolism. The genome sequence provides the foundation for future studies of this organism, and is being exploited in the search for new drugs and vaccines to fight malaria. 相似文献
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Hall N Pain A Berriman M Churcher C Harris B Harris D Mungall K Bowman S Atkin R Baker S Barron A Brooks K Buckee CO Burrows C Cherevach I Chillingworth C Chillingworth T Christodoulou Z Clark L Clark R Corton C Cronin A Davies R Davis P Dear P Dearden F Doggett J Feltwell T Goble A Goodhead I Gwilliam R Hamlin N Hance Z Harper D Hauser H Hornsby T Holroyd S Horrocks P Humphray S Jagels K James KD Johnson D Kerhornou A Knights A Konfortov B Kyes S Larke N Lawson D Lennard N Line A Maddison M 《Nature》2002,419(6906):527-531
Since the sequencing of the first two chromosomes of the malaria parasite, Plasmodium falciparum, there has been a concerted effort to sequence and assemble the entire genome of this organism. Here we report the sequence of chromosomes 1, 3-9 and 13 of P. falciparum clone 3D7--these chromosomes account for approximately 55% of the total genome. We describe the methods used to map, sequence and annotate these chromosomes. By comparing our assemblies with the optical map, we indicate the completeness of the resulting sequence. During annotation, we assign Gene Ontology terms to the predicted gene products, and observe clustering of some malaria-specific terms to specific chromosomes. We identify a highly conserved sequence element found in the intergenic region of internal var genes that is not associated with their telomeric counterparts. 相似文献
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Yang JJ Cheng C Devidas M Cao X Fan Y Campana D Yang W Neale G Cox NJ Scheet P Borowitz MJ Winick NJ Martin PL Willman CL Bowman WP Camitta BM Carroll A Reaman GH Carroll WL Loh M Hunger SP Pui CH Evans WE Relling MV 《Nature genetics》2011,43(3):237-241
Although five-year survival rates for childhood acute lymphoblastic leukemia (ALL) are now over 80% in most industrialized countries, not all children have benefited equally from this progress. Ethnic differences in survival after childhood ALL have been reported in many clinical studies, with poorer survival observed among African Americans or those with Hispanic ethnicity when compared with European Americans or Asians. The causes of ethnic differences remain uncertain, although both genetic and non-genetic factors are likely important. Interrogating genome-wide germline SNP genotypes in an unselected large cohort of children with ALL, we observed that the component of genomic variation that co-segregated with Native American ancestry was associated with risk of relapse (P = 0.0029) even after adjusting for known prognostic factors (P = 0.017). Ancestry-related differences in relapse risk were abrogated by the addition of a single extra phase of chemotherapy, indicating that modifications to therapy can mitigate the ancestry-related risk of relapse. 相似文献
45.
Bowman AB Lam YC Jafar-Nejad P Chen HK Richman R Samaco RC Fryer JD Kahle JJ Orr HT Zoghbi HY 《Nature genetics》2007,39(3):373-379
Spinocerebellar ataxia type 1 (SCA1) is a dominantly inherited neurodegenerative disease caused by expansion of a glutamine tract in ataxin-1 (ATXN1). SCA1 pathogenesis studies support a model in which the expanded glutamine tract causes toxicity by modulating the normal activities of ATXN1. To explore native interactions that modify the toxicity of ATXN1, we generated a targeted duplication of the mouse ataxin-1-like (Atxn1l, also known as Boat) locus, a highly conserved paralog of SCA1, and tested the role of this protein in SCA1 pathology. Using a knock-in mouse model of SCA1 that recapitulates the selective neurodegeneration seen in affected individuals, we found that elevated Atxn1l levels suppress neuropathology by displacing mutant Atxn1 from its native complex with Capicua (CIC). Our results provide genetic evidence that the selective neuropathology of SCA1 arises from modulation of a core functional activity of ATXN1, and they underscore the importance of studying the paralogs of genes mutated in neurodegenerative diseases to gain insight into mechanisms of pathogenesis. 相似文献
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Wood V Gwilliam R Rajandream MA Lyne M Lyne R Stewart A Sgouros J Peat N Hayles J Baker S Basham D Bowman S Brooks K Brown D Brown S Chillingworth T Churcher C Collins M Connor R Cronin A Davis P Feltwell T Fraser A Gentles S Goble A Hamlin N Harris D Hidalgo J Hodgson G Holroyd S Hornsby T Howarth S Huckle EJ Hunt S Jagels K James K Jones L Jones M Leather S McDonald S McLean J Mooney P Moule S Mungall K Murphy L Niblett D Odell C Oliver K O'Neil S Pearson D Quail MA Rabbinowitsch E 《Nature》2002,415(6874):871-880
We have sequenced and annotated the genome of fission yeast (Schizosaccharomyces pombe), which contains the smallest number of protein-coding genes yet recorded for a eukaryote: 4,824. The centromeres are between 35 and 110 kilobases (kb) and contain related repeats including a highly conserved 1.8-kb element. Regions upstream of genes are longer than in budding yeast (Saccharomyces cerevisiae), possibly reflecting more-extended control regions. Some 43% of the genes contain introns, of which there are 4,730. Fifty genes have significant similarity with human disease genes; half of these are cancer related. We identify highly conserved genes important for eukaryotic cell organization including those required for the cytoskeleton, compartmentation, cell-cycle control, proteolysis, protein phosphorylation and RNA splicing. These genes may have originated with the appearance of eukaryotic life. Few similarly conserved genes that are important for multicellular organization were identified, suggesting that the transition from prokaryotes to eukaryotes required more new genes than did the transition from unicellular to multicellular organization. 相似文献
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