排序方式: 共有116条查询结果,搜索用时 15 毫秒
61.
Schmutz J Wheeler J Grimwood J Dickson M Yang J Caoile C Bajorek E Black S Chan YM Denys M Escobar J Flowers D Fotopulos D Garcia C Gomez M Gonzales E Haydu L Lopez F Ramirez L Retterer J Rodriguez A Rogers S Salazar A Tsai M Myers RM 《Nature》2004,429(6990):365-368
As the final sequencing of the human genome has now been completed, we present the results of the largest examination of the quality of the finished DNA sequence. The completed study covers the major contributing sequencing centres and is based on a rigorous combination of laboratory experiments and computational analysis. 相似文献
62.
Evolution of genes and genomes on the Drosophila phylogeny 总被引:2,自引:0,他引:2
Drosophila Genomes Consortium Clark AG Eisen MB Smith DR Bergman CM Oliver B Markow TA Kaufman TC Kellis M Gelbart W Iyer VN Pollard DA Sackton TB Larracuente AM Singh ND Abad JP Abt DN Adryan B Aguade M Akashi H Anderson WW Aquadro CF Ardell DH Arguello R Artieri CG Barbash DA Barker D Barsanti P Batterham P Batzoglou S Begun D Bhutkar A Blanco E Bosak SA Bradley RK Brand AD Brent MR Brooks AN Brown RH Butlin RK Caggese C Calvi BR Bernardo de Carvalho A Caspi A Castrezana S Celniker SE 《Nature》2007,450(7167):203-218
Comparative analysis of multiple genomes in a phylogenetic framework dramatically improves the precision and sensitivity of evolutionary inference, producing more robust results than single-genome analyses can provide. The genomes of 12 Drosophila species, ten of which are presented here for the first time (sechellia, simulans, yakuba, erecta, ananassae, persimilis, willistoni, mojavensis, virilis and grimshawi), illustrate how rates and patterns of sequence divergence across taxa can illuminate evolutionary processes on a genomic scale. These genome sequences augment the formidable genetic tools that have made Drosophila melanogaster a pre-eminent model for animal genetics, and will further catalyse fundamental research on mechanisms of development, cell biology, genetics, disease, neurobiology, behaviour, physiology and evolution. Despite remarkable similarities among these Drosophila species, we identified many putatively non-neutral changes in protein-coding genes, non-coding RNA genes, and cis-regulatory regions. These may prove to underlie differences in the ecology and behaviour of these diverse species. 相似文献
63.
Nurieva R Yang XO Martinez G Zhang Y Panopoulos AD Ma L Schluns K Tian Q Watowich SS Jetten AM Dong C 《Nature》2007,448(7152):480-483
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65.
外荷载作用下的软黏土电渗试验 总被引:4,自引:0,他引:4
为改善软土地基的固结排水效果,对联合使用电渗固结与预压排水技术进行了电渗试验。对于不同黏土试样,同时施加恒定的75 kPa外荷载和0~20V外电场,研究在耦合作用时的渗透出流变化。试验结果表明:与仅有外荷载作用相比,在耦合作用下表现为阳极渗透出流量减小、阴极渗透出流量增大、总渗透出流量增大;阳极渗透出流量的变化与电压大小无直接关系;耦合作用能提高饱和黏土的排水速率,特别是在外加电压较高时,电渗固结效果较为明显。 相似文献
66.
Davies WI Zheng L Hughes S Tamai TK Turton M Halford S Foster RG Whitmore D Hankins MW 《Cellular and molecular life sciences : CMLS》2011,68(24):4115-4132
Melanopsin (OPN4) is an opsin photopigment that, in mammals, confers photosensitivity to retinal ganglion cells and regulates
circadian entrainment and pupil constriction. In non-mammalian species, two forms of opn4 exist, and are classified into mammalian-like (m) and non-mammalian-like (x) clades. However, far less is understood of the function of this photopigment family. Here we identify in zebrafish five
melanopsins (opn4m-1, opn4m-2, opn4m-3, opn4x-1 and opn4x-2), each encoding a full-length opsin G protein. All five genes are expressed in the adult retina in a largely non-overlapping
pattern, as revealed by RNA in situ hybridisation and immunocytochemistry, with at least one melanopsin form present in all
neuronal cell types, including cone photoreceptors. This raises the possibility that the teleost retina is globally light
sensitive. Electrophysiological and spectrophotometric studies demonstrate that all five zebrafish melanopsins encode a functional
photopigment with peak spectral sensitivities that range from 470 to 484 nm, with opn4m-1 and opn4m-3 displaying invertebrate-like
bistability, where the retinal chromophore interchanges between cis- and trans-isomers in a light-dependent manner and remains within the opsin binding pocket. In contrast, opn4m-2, opn4x-1 and opn4x-2
are monostable and function more like classical vertebrate-like photopigments, where the chromophore is converted from 11-cis to all-trans retinal upon absorption of a photon, hydrolysed and exits from the binding pocket of the opsin. It is thought that all melanopsins
exhibit an invertebrate-like bistability biochemistry. Our novel findings, however, reveal the presence of both invertebrate-like
and vertebrate-like forms of melanopsin in the teleost retina, and indicate that photopigment bistability is not a universal
property of the melanopsin family. The functional diversity of these teleost melanopsins, together with their widespread expression
pattern within the retina, suggests that melanopsins confer global photosensitivity to the teleost retina and might allow
for direct “fine-tuning” of retinal circuitry and physiology in the dynamic light environments found in aquatic habitats. 相似文献
67.
Kornum BR Kawashima M Faraco J Lin L Rico TJ Hesselson S Axtell RC Kuipers H Weiner K Hamacher A Kassack MU Han F Knudsen S Li J Dong X Winkelmann J Plazzi G Nevsimalova S Hong SC Honda Y Honda M Högl B Ton TG Montplaisir J Bourgin P Kemlink D Huang YS Warby S Einen M Eshragh JL Miyagawa T Desautels A Ruppert E Hesla PE Poli F Pizza F Frauscher B Jeong JH Lee SP Strohl KP Longstreth WT Kvale M Dobrovolna M Ohayon MM Nepom GT Wichmann HE Rouleau GA Gieger C Levinson DF Gejman PV Meitinger T 《Nature genetics》2011,43(1):66-71
Growing evidence supports the hypothesis that narcolepsy with cataplexy is an autoimmune disease. We here report genome-wide association analyses for narcolepsy with replication and fine mapping across three ethnic groups (3,406 individuals of European ancestry, 2,414 Asians and 302 African Americans). We identify a SNP in the 3' untranslated region of P2RY11, the purinergic receptor subtype P2Y?? gene, which is associated with narcolepsy (rs2305795, combined P = 6.1 × 10?1?, odds ratio = 1.28, 95% CI 1.19-1.39, n = 5689). The disease-associated allele is correlated with reduced expression of P2RY11 in CD8(+) T lymphocytes (339% reduced, P = 0.003) and natural killer (NK) cells (P = 0.031), but not in other peripheral blood mononuclear cell types. The low expression variant is also associated with reduced P2RY11-mediated resistance to ATP-induced cell death in T lymphocytes (P = 0.0007) and natural killer cells (P = 0.001). These results identify P2RY11 as an important regulator of immune-cell survival, with possible implications in narcolepsy and other autoimmune diseases. 相似文献
68.
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
69.
Kornak U Reynders E Dimopoulou A van Reeuwijk J Fischer B Rajab A Budde B Nürnberg P Foulquier F;ARCL Debré-type Study Group Lefeber D Urban Z Gruenewald S Annaert W Brunner HG van Bokhoven H Wevers R Morava E Matthijs G Van Maldergem L Mundlos S 《Nature genetics》2008,40(1):32-34
We identified loss-of-function mutations in ATP6V0A2, encoding the a2 subunit of the V-type H+ ATPase, in several families with autosomal recessive cutis laxa type II or wrinkly skin syndrome. The mutations result in abnormal glycosylation of serum proteins (CDG-II) and cause an impairment of Golgi trafficking in fibroblasts from affected individuals. These results indicate that the a2 subunit of the proton pump has an important role in Golgi function. 相似文献
70.
Luiz F L Silveira Gabriel Khattar Stephanie Vaz Vinicius A. Wilson Paula M. Souto José R. M. Mermudes 《Journal of Natural History》2020,54(5-6):275-308
ABSTRACT Fireflies (Coleoptera: Lampyridae) are charismatic insects that have been fruitful model systems in biotechnology. However, lack of information about firefly taxonomy and ecology renders species identification a hard task, especially in the Neotropical region, where fireflies are most diverse. A major gap in the literature on Neotropical fireflies is the lack of knowledge on species’ ecological niches and habitats, which are fundamental aspects for understanding their biology. Here, we provide an annotated checklist of the firefly fauna of the Serra dos Órgãos mountain range (Rio de Janeiro State, Southeastern Brazil), with information on the natural history of each species. We assembled data in three ways: monthly sampling with Malaise traps and active search along an elevational transect from 130 to 2,170 m, over 2 years (2014–2016), extensive field observations, and extracted from historical species records for the Serra dos Órgãos from museum specimens in key collections in Brazil and Europe. We provide a taxonomic key to the genera recorded in the region, and a differential diagnosis for each species, highlighting key references for each taxon. We report 58 species representing 21 genera, making the Serra dos Órgãos one of the richest firefly hotspots on Earth. Most species are restricted to one or two habitat types and/or just one of the regional seasons (warm or cool), and many were only collected either by malaise traps or active search, underlining the importance of sampling different habitat types and seasons, and using different sampling methods when surveying fireflies. Out of the 51 species observed in the field, 49 were active either during the day or the night, although two species – Photuris elliptica and Pyrogaster nigrolineatus – were active in both periods, which is rare in fireflies. 相似文献