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1.
Theofilos Papadopoulos Rudolf Schemm Helmut Grubmüller Nils Brose 《The Journal of biological chemistry》2015,290(13):8256-8270
Signaling at nerve cell synapses is a key determinant of proper brain function, and synaptic defects—or synaptopathies—are at the basis of many neurological and psychiatric disorders. In key areas of the mammalian brain, such as the hippocampus or the basolateral amygdala, the clustering of the scaffolding protein Gephyrin and of γ-aminobutyric acid type A receptors at inhibitory neuronal synapses is critically dependent upon the brain-specific guanine nucleotide exchange factor Collybistin (Cb). Accordingly, it was discovered recently that an R290H missense mutation in the diffuse B-cell lymphoma homology domain of Cb, which carries the guanine nucleotide exchange factor activity, leads to epilepsy and intellectual disability in human patients. In the present study, we determined the mechanism by which the CbR290H mutation perturbs inhibitory synapse formation and causes brain dysfunction. Based on a combination of biochemical, cell biological, and molecular dynamics simulation approaches, we demonstrate that the R290H mutation alters the strength of intramolecular interactions between the diffuse B-cell lymphoma homology domain and the pleckstrin homology domain of Cb. This defect reduces the phosphatidylinositol 3-phosphate binding affinity of Cb, which limits its normal synaptogenic activity. Our data indicate that impairment of the membrane lipid binding activity of Cb and a consequent defect in inhibitory synapse maturation represent a likely molecular pathomechanism of epilepsy and mental retardation in humans. 相似文献
2.
Assessment of genetic diversity and relationship among a collection of US sweet sorghum germplasm by SSR markers 总被引:1,自引:0,他引:1
M. L. Ali J. F. Rajewski P. S. Baenziger K. S. Gill K. M. Eskridge I. Dweikat 《Molecular breeding : new strategies in plant improvement》2008,21(4):497-509
Sweet sorghum (Sorghum bicolor L.) is a type of cultivated sorghums and has been recognized widely as potential alternative source of bio-fuel because of
its high fermentable sugar content in the stalk. A substantial variation of sugar content and related traits is known to exist
in US sweet sorghum. The objectives of the study were to assess the genetic diversity and relationship among the US sweet
sorghum cultivars and lines using SSR markers and to examine the genetic variability within sweet sorghum accessions for sugar
content. Sixty-eight sweet sorghum and four grain sorghum cultivars and lines were genotyped with 41 SSR markers that generated
132 alleles with an average of 3.22 alleles per locus. Polymorphism information content (PIC) value, a measure of gene diversity,
was 0.40 with a range of 0.03–0.87. The genetic similarity co-efficient was estimated based on the segregation of the 132
SSR alleles. Clustering analysis based on the genetic similarity (GS) grouped the 72 sorghum accessions into 10 distinct clusters.
Grouping based on clustering analysis was in good agreement with available pedigree and genetic background information. The
study has revealed the genetic relationship of cultivars with unknown parentage to those with known parentage. A number of
diverse pairs of sweet sorghum accessions were identified which were polymorphic at many SSR loci and significantly different
for sugar content as well. Information generated from this study can be used to select parents for hybrid development to maximize
the sugar content and total biomass, and development of segregating populations to map genes controlling sugar content in
sweet sorghum. 相似文献
3.
六盘山地区油松树轮宽度年表与多尺度标准化降水指数的关系 总被引:1,自引:0,他引:1
研究利用在六盘山地区采集的油松树轮样芯建立树轮宽度标准年表(STD),分别与不同长度时间单元(月、半月、旬)和多时间尺度的标准化降水指数(SPIn)序列进行相关性分析。油松标准年表与不同长度时间单元SPI的相关结果显示,较小的时间单元会使相关性表达更加精确,而时间单元过小则会因为数据波动性增大而导致相关关系弱化。因此,相较于月和旬,半月是相关性分析更为合适的时间单元长度。油松标准年表与多时间尺度SPI的相关结果显示,SPI多时间尺度的特性有助于揭示油松径向生长对不同时间尺度水分状况的响应特征,且油松在不同生长时期对于不同时间尺度水分状况具有相异的响应机制。在温度较低(0℃)的冬季,短时间内的降水并不利于树木生长,而长时间良好的水分储备会为树木生长季需水提供保障;在生长季前期,长时间良好的水分状况比短期内的降水更有利于树木的生长;在生长季,补给性水分和土壤水分都对树木生长起着至关重要的作用。 相似文献
4.
5.
Genetic variability and association of ISSR markers with some biochemical traits in mulberry (Morus spp.) genetic resources available in India 总被引:2,自引:0,他引:2
Prasanta K. Kar Prem P. Srivastava Arvind K. Awasthi S. Raje Urs 《Tree Genetics & Genomes》2008,4(1):75-83
Utilizing intersimple sequence repeat (ISSR) markers, 18 mulberry (Morus spp.) germplasm collections were studied for genetic variability, phylogenetic relationship, and association with protein
and sugar content. The genetic polymorphism exhibited by ISSR primers was 100%, and the genetic diversity recorded among the
mulberry accessions had an average of 0.263 ± 0.094. Dendrogram (unweighted pair group method analysis) clustered the mulberry
accessions into two major groups, one comprised the accessions collected from north or northeast regions of India, and the
other comprised three subclusters and one isolate, i.e., Assamjati, a collection from Assam. Another subcluster contained
accessions collected from Kerala, which belong to Morus indica. These accessions of M. indica from Kerala were found to be genetically diverse from north and northeast India. Multidimensional scaling of the ISSR data
clearly separated the mulberry accessions according to their genetic diversity and protein content. Mulberry accessions were
arbitrarily grouped into three classes viz. very low, moderate, and high in terms of protein and sugar content using standard
statistical programs. Stepwise multiple regression analysis identified four ISSR markers (8351,600, 8355,600, 8222,500, and 8072,500) associated with protein content with highly positive correlation (p < 0.001) with linear curves with high F values (18.055 to 48.674; p < 0.001). In case of sugar content, four ISSR markers viz. 812900, 8171,500, 8261,500, and 8108,000 showed negative correlation. Hence, DNA markers for proteins seem promising and may be used in marker-assisted breeding program. 相似文献
6.
红壤退化地森林恢复后土壤有机碳对土壤水库库容的影响 总被引:1,自引:0,他引:1
亚热带红壤侵蚀退化地实施生态恢复后生物生产力恢复迅速,但土壤尤其是土壤水库的功能并未获得同步恢复,导致土壤水库对于降水和地表径流的调节能力低下,区域性洪涝灾害和季节性干旱依然突出。采用野外调查和室内分析相结合的方式,研究了南方红壤侵蚀退化地典型植被恢复类型(马尾松与阔叶树复层林、木荷与马尾松混交林、阔叶混交林)0—60cm土层土壤水库各种库容差异,以及土壤总有机碳和活性有机碳密度分布特征,采用典型相关分析方法对土壤水库库容与土壤有机碳密度两组指标进行相关分析。结果表明:随着土层深度的增加,各森林恢复类型死库容呈上升趋势,兴利库容和最大有效库容呈下降趋势,防洪库容变化趋势不明显,木荷与马尾松混交林兴利库容略高。不同森林恢复类型同一土层土壤总有机碳密度均表现为马尾松与阔叶树复层林木荷与马尾松混交林阔叶混交林,而活性有机碳密度则以阔叶混交林最大。典型相关分析表明,土壤有机碳水平对土壤水库库容的增加具有显著的因果影响关系(P=0.01),其中对有机碳水平起到主导性贡献作用的是水溶性有机碳。因此,对于退化红壤地森林恢复初期,可通过适当密植和立体种植,提高林地生物量和土壤碳密度,并在马尾松等先锋树种针叶林分中补植阔叶乔灌木,以增加土壤活性有机碳含量,增大土壤水库容量,从而有利于土壤水库结构和功能以及退化生态系统的快速恢复。 相似文献
7.
The acaricides clofentezine, hexythiazox and etoxazole are commonly referred to as ‘mite growth inhibitors’, and clofentezine and hexythiazox have been used successfully for the integrated control of plant mite pests for decades. Although they are still important today, their mode of action has remained elusive. Recently, a mutation in chitin synthase 1 (CHS1) was linked to etoxazole resistance. In this study, we identified and investigated a Tetranychus urticae strain (HexR) harboring recessive, monogenic resistance to each of hexythiazox, clofentezine, and etoxazole. To elucidate if there is a common genetic basis for the observed cross-resistance, we adapted a previously developed bulk segregant analysis method to map with high resolution a single, shared resistance locus for all three compounds. This finding indicates that the underlying molecular basis for resistance to all three compounds is identical. This locus is centered on the CHS1 gene, and as supported by additional genetic and biochemical studies, a non-synonymous variant (I1017F) in CHS1 associates with resistance to each of the tested acaricides in HexR. Our findings thus demonstrate a shared molecular mode of action for the chemically diverse mite growth inhibitors clofentezine, hexythiazox and etoxazole as inhibitors of an essential, non-catalytic activity of CHS1. Given the previously documented cross-resistance between clofentezine, hexythiazox and the benzyolphenylurea (BPU) compounds flufenoxuron and cycloxuron, CHS1 should be also considered as a potential target-site of insecticidal BPUs. 相似文献
8.
矮秆已被广泛用于改良作物的抗倒伏性状,培育理想株型,从而提高作物产量。玉米矮秆突变体K123d由自交系K123自然突变产生。本研究比较该突变体与野生型主要农艺性状差异及其对赤霉素的敏感性;用K123d与株高不同的3个自交系分别构建F1、BC和F2群体,分析矮秆性状的遗传模式;以K169/K123d-F2为定位群体,采用集团分离分析法(BSA),运用SSR标记定位矮秆基因d123;参照br-2序列信息分段设计特异引物,同源克隆d123。结果表明,与野生型相比K123d株高降低35.59%,穗位高降低、节间缩短、叶片较直立,但结实率差,对赤霉素敏感;在F2群体和BC1群体中,正常植株与矮秆植株分离比例分别符合3∶1和1∶1,说明矮秆性状受1对隐性基因控制;其矮秆基因d123定位于第一条染色体上SSR标记umc1278和bnlg1564之间,遗传距离分别为12.8 c M和7.3 c M;同源克隆显示d123与br-2存在12个碱基替换,其中第4个外显子编码的一个谷氨酸被替换为赖氨酸。由此可见,矮秆突变体K123d为br-2的一个突变类型,对矮化育种具有进一步研究利用价值。 相似文献
9.
Eleutheronema tetradactylum is an economically important fish species in China water. To investigate the genetic diversity and describe population structure of it, an 1151 base pair (bp) fragment of the mitochondrial DNA Cytb sequence was analyzed in 120 individuals from four populations in the East China Sea and the South China Sea. A total of 16 haplotypes were defined by 24 variable nucleotide sites. High level of haplotype diversity and low nucleotide diversity were observed in all populations. The results of AMOVA detected that 89.44% of the genetic variation occurred within populations. Significant genetic differentiations were detected among populations (0.05097, P < 0.05), but no large-scale regional differences were detected. Analysis of neutral evolution and mismatch distribution suggested no recent population expansion happened. The present results provided new information for genetic assessment, fishery management and conservation of this species. 相似文献
10.
Relative efficiency of unequal versus equal cluster sizes in cluster randomized trials using generalized estimating equation models 下载免费PDF全文
There is growing interest in conducting cluster randomized trials (CRTs). For simplicity in sample size calculation, the cluster sizes are assumed to be identical across all clusters. However, equal cluster sizes are not guaranteed in practice. Therefore, the relative efficiency (RE) of unequal versus equal cluster sizes has been investigated when testing the treatment effect. One of the most important approaches to analyze a set of correlated data is the generalized estimating equation (GEE) proposed by Liang and Zeger, in which the “working correlation structure” is introduced and the association pattern depends on a vector of association parameters denoted by ρ. In this paper, we utilize GEE models to test the treatment effect in a two‐group comparison for continuous, binary, or count data in CRTs. The variances of the estimator of the treatment effect are derived for the different types of outcome. RE is defined as the ratio of variance of the estimator of the treatment effect for equal to unequal cluster sizes. We discuss a commonly used structure in CRTs—exchangeable, and derive the simpler formula of RE with continuous, binary, and count outcomes. Finally, REs are investigated for several scenarios of cluster size distributions through simulation studies. We propose an adjusted sample size due to efficiency loss. Additionally, we also propose an optimal sample size estimation based on the GEE models under a fixed budget for known and unknown association parameter (ρ) in the working correlation structure within the cluster. 相似文献