排序方式: 共有76条查询结果,搜索用时 140 毫秒
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Unique physiological and pathogenic features of Leptospira interrogans revealed by whole-genome sequencing 总被引:47,自引:0,他引:47
Ren SX Fu G Jiang XG Zeng R Miao YG Xu H Zhang YX Xiong H Lu G Lu LF Jiang HQ Jia J Tu YF Jiang JX Gu WY Zhang YQ Cai Z Sheng HH Yin HF Zhang Y Zhu GF Wan M Huang HL Qian Z Wang SY Ma W Yao ZJ Shen Y Qiang BQ Xia QC Guo XK Danchin A Saint Girons I Somerville RL Wen YM Shi MH Chen Z Xu JG Zhao GP 《Nature》2003,422(6934):888-893
Leptospirosis is a widely spread disease of global concern. Infection causes flu-like episodes with frequent severe renal and hepatic damage, such as haemorrhage and jaundice. In more severe cases, massive pulmonary haemorrhages, including fatal sudden haemoptysis, can occur. Here we report the complete genomic sequence of a representative virulent serovar type strain (Lai) of Leptospira interrogans serogroup Icterohaemorrhagiae consisting of a 4.33-megabase large chromosome and a 359-kilobase small chromosome, with a total of 4,768 predicted genes. In terms of the genetic determinants of physiological characteristics, the facultatively parasitic L. interrogans differs extensively from two other strictly parasitic pathogenic spirochaetes, Treponema pallidum and Borrelia burgdorferi, although similarities exist in the genes that govern their unique morphological features. A comprehensive analysis of the L. interrogans genes for chemotaxis/motility and lipopolysaccharide synthesis provides a basis for in-depth studies of virulence and pathogenesis. The discovery of a series of genes possibly related to adhesion, invasion and the haematological changes that characterize leptospirosis has provided clues about how an environmental organism might evolve into an important human pathogen. 相似文献
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Torgerson DG Ampleford EJ Chiu GY Gauderman WJ Gignoux CR Graves PE Himes BE Levin AM Mathias RA Hancock DB Baurley JW Eng C Stern DA Celedón JC Rafaels N Capurso D Conti DV Roth LA Soto-Quiros M Togias A Li X Myers RA Romieu I Van Den Berg DJ Hu D Hansel NN Hernandez RD Israel E Salam MT Galanter J Avila PC Avila L Rodriquez-Santana JR Chapela R Rodriguez-Cintron W Diette GB Adkinson NF Abel RA Ross KD Shi M Faruque MU Dunston GM Watson HR Mantese VJ Ezurum SC Liang L Ruczinski I Ford JG 《Nature genetics》2011,43(9):887-892
Asthma is a common disease with a complex risk architecture including both genetic and environmental factors. We performed a meta-analysis of North American genome-wide association studies of asthma in 5,416 individuals with asthma (cases) including individuals of European American, African American or African Caribbean, and Latino ancestry, with replication in an additional 12,649 individuals from the same ethnic groups. We identified five susceptibility loci. Four were at previously reported loci on 17q21, near IL1RL1, TSLP and IL33, but we report for the first time, to our knowledge, that these loci are associated with asthma risk in three ethnic groups. In addition, we identified a new asthma susceptibility locus at PYHIN1, with the association being specific to individuals of African descent (P = 3.9 × 10(-9)). These results suggest that some asthma susceptibility loci are robust to differences in ancestry when sufficiently large samples sizes are investigated, and that ancestry-specific associations also contribute to the complex genetic architecture of asthma. 相似文献
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Lee JE Silhavy JL Zaki MS Schroth J Bielas SL Marsh SE Olvera J Brancati F Iannicelli M Ikegami K Schlossman AM Merriman B Attié-Bitach T Logan CV Glass IA Cluckey A Louie CM Lee JH Raynes HR Rapin I Castroviejo IP Setou M Barbot C Boltshauser E Nelson SF Hildebrandt F Johnson CA Doherty DA Valente EM Gleeson JG 《Nature genetics》2012,44(2):193-199
Tubulin glutamylation is a post-translational modification that occurs predominantly in the ciliary axoneme and has been suggested to be important for ciliary function. However, its relationship to disorders of the primary cilium, termed ciliopathies, has not been explored. Here we mapped a new locus for Joubert syndrome (JBTS), which we have designated as JBTS15, and identified causative mutations in CEP41, which encodes a 41-kDa centrosomal protein. We show that CEP41 is localized to the basal body and primary cilia, and regulates ciliary entry of TTLL6, an evolutionarily conserved polyglutamylase enzyme. Depletion of CEP41 causes ciliopathy-related phenotypes in zebrafish and mice and results in glutamylation defects in the ciliary axoneme. Our data identify CEP41 mutations as a cause of JBTS and implicate tubulin post-translational modification in the pathogenesis of human ciliary dysfunction. 相似文献
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Jones C Roper VC Foucher I Qian D Banizs B Petit C Yoder BK Chen P 《Nature genetics》2008,40(1):69-77
Planar cell polarity (PCP) refers to coordinated polarization of cells within the plane of a cell sheet. A conserved signaling pathway is required for the establishment of PCP in epithelial tissues and for polarized cellular rearrangements known as convergent extension. During PCP signaling, core PCP proteins are sorted asymmetrically along the polarization axis; this sorting is thought to direct coordinated downstream morphogenetic changes across the entire tissue. Here, we show that a gene encoding a ciliary protein (a 'ciliary gene'), Ift88, also known as Polaris, is required for establishing epithelial PCP and for convergent extension of the cochlear duct of Mus musculus. We also show that the proper positioning of ciliary basal bodies and the formation of polarized cellular structures are disrupted in mice with mutant ciliary proteins ('ciliary mutants'), whereas core PCP proteins are partitioned normally along the polarization axis. Thus, our data uncover a distinct requirement for ciliary genes in basal body positioning and morphological polarization during PCP regulation. 相似文献
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Eva C. Schwarz Christina Backes Arne Knörck Nicole Ludwig Petra Leidinger Cora Hoxha Gertrud Schwär Thomas Grossmann Sabine C. Müller Martin Hart Jan Haas Valentina Galata Isabelle Müller Tobias Fehlmann Hermann Eichler Andre Franke Benjamin Meder Eckart Meese Markus Hoth Andreas Keller 《Cellular and molecular life sciences : CMLS》2016,73(16):3169-3181
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