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101.
Glycine substitutions in the triple-helical region of type VII collagen result in a spectrum of dystrophic epidermolysis bullosa phenotypes and patterns of inheritance. 总被引:5,自引:2,他引:3 下载免费PDF全文
A. M. Christiano J. A. McGrath K. C. Tan J. Uitto 《American journal of human genetics》1996,58(4):671-681
The dystrophic forms of epidermolysis bullosa (DEB) are characterized by fragility of the skin and mucous membranes. DEB can be inherited in either an autosomal dominant or autosomal recessive pattern, and the spectrum of clinical severity is highly variable. The unifying diagnostic hallmark of DEB is abnormalities in the anchoring fibrils, which consist of type VII collagen, and, recently, mutations in the corresponding gene, COL7A1, have been disclosed in a number of families. In this study, we report six families with glycine substitution mutations in the triple-helical region of type VII collagen. Among the six families, two demonstrated a mild phenotype, and the inheritance of the mutation was consistent with the dominantly inherited form of DEB. In the four other families, the mutation was silent in the heterozygous state but, when present in the homozygous state, or combined with a second mutation, resulted in a recessively inherited DEB phenotype. Type VII collagen is, therefore, unique among the collagen genes, in that different glycine substitutions can be either silent in heterozygous individuals or result in a dominantly inherited DEB. Inspection of the locations of the glycine substitutions along the COL7A1 polypeptide suggests that the consequences of these mutations, in terms of phenotype and pattern of inheritance, are position independent. 相似文献
102.
Structure and dynamics of melittin in lysomyristoyl phosphatidylcholine micelles determined by nuclear magnetic resonance. 总被引:1,自引:0,他引:1 下载免费PDF全文
Mixed micelles of the 26-residue, lytic peptide melittin (MLT) and 1-myristoyl-2-hydroxyl-sn-glycero-3-phosphocholine (MMPC) in aqueous solution at 25 degrees C were investigated by (13)C- and (31)P-NMR spectroscopy. (13)C alpha chemical shifts of isotopically labeled synthetic MLT revealed that MLT in the micelle is predominantly alpha-helical and that the peptide secondary structure is stable from pH 4 to pH 11. Although the helical transformation of MLT as determined from NMR is evident at lipid:peptide molar ratios as low as 1:2, tryptophan fluorescence measurements demonstrate that well-defined micellar complexes do not predominate until lipid:peptide ratios exceed 30:1. (31)P linewidth measurements indicate that the interaction between phosphate ions in solution and cationic groups on MLT is pH dependent, and that the phosphoryl group of MMPC senses a constant charge, most likely +2, on MLT from pH 4 to pH 10. (13)C-NMR relaxation data, analyzed using the model-free formalism, show that the peptide backbone of MLT is partially, but not completely, immobilized in the mixed micelles. Specifically, order parameters (S(2)) of C alpha-H vectors averaged 0.7 and were somewhat larger for residues in the N-terminal half of the molecule. The amino terminal glycine had essentially the same range of motion as the backbone carbons. Likewise, order parameters for the trp side chain were similar to those found for the peptide C alpha moieties, as was verified by trp fluorescence anisotropy decay data. In contrast, the motion of the lysine side chains was less restricted, the average S(2) values for the C epsilon-H vectors being 0.19, 0.30, and 0.44 for lys-7, 21, and 23, respectively, for MLT in the mixed micelles. Values of the effective correlation time of the local motion tau e were in the motional narrowing limit and usually longer for side-chain atoms than for those in the backbone. The dynamics were independent of pH from pH 4 to pH 9, but at pH 11 the correlation time for the rotational motion of the mixed micelles as a whole increased from 10 ns to 16 ns, and S(2) for the lys side chains increased. Overall it appears that the MLT helix lies near the surface of the micelle at low to neutral pH, but at higher pH its orientation changes, accompanied by deeper penetration of the lysine side chains into the micelle interior. It is apparent, however, that the MLT-lipid interaction is not dependent on deprotonation of any of the titratable cationic groups in the peptide in the pH 4-10 range, and that there is substantial backbone and side-chain mobility in micelle-bound MLT. 相似文献
103.
本文论证了菲波纳斯(Fibonacci)级数与菊花花冠结构的关系,发现了花冠的通用数学模式:花冠(数目)=(5×倍数)十F_n(F_(n-1)+F_(n-2)) 相似文献
104.
武汉东湖水生植被及其恢复途径探讨 总被引:4,自引:0,他引:4
1992~1993年对武汉东湖三个主要湖区(郭郑湖、汤林湖和牛巢湖)水生植被的调查表明,该湖区共有水生植物32种,优势种为大茨藻、狐尾藻、苦草和菱。金鱼藻呈不断扩大的趋势。植被类型可分为11个群丛,植被面积约为0.65km ̄2,总生物量为1236.39t(湿重),植被带状分布仅见于汤林湖北部和其他部分湖汊。汤林湖和牛巢湖水生植被正处于自然恢复演替阶段。 相似文献
105.
以人胃癌细胞BGC-823为模型,研究了毛喉萜(forskolin)对胃癌细胞中蛋白激酶C活性及其亚类基因表达的作用,同时也观察了毛喉萜对癌基因c-jun及抑癌基因p53表达的影响.结果表明,2×10~(-5)mol/L毛喉萜处理BGC-823细胞72h,细胞质、膜和细胞核PKC活性下降,PKC亚类β,γ基因表达被抑制,癌基因c-jun的表达也明显降低,而抑癌基因p53表达升高,上述变化可能是毛喉萜抑制胃癌细胞增殖等生理效应的重要分子事件。 相似文献
106.
Abstract. In the Rhône delta, Juncus gerardi and Scirpus maritimus are often the dominant species in abandoned rice fields which are artificially flooded in early spring to improve forage production. Under these conditions they occur either in mixed communities, or form monospecific stands. Monitoring the vegetation dynamics in quadrats located in six abandoned rice fields artificially flooded from November to April confirmed the important role of grazing. In ungrazed plots, communities dominated by Scirpus maritimus mixed with Juncus gerardi developed fast. After 42 months of management Scirpus maritimus had established in nearly all quadrats and continued to expand, whereas Juncus gerardi had started to decline. In grazed plots Juncus gerardi alone dominated and continued to increase in cover up to the 42nd month. Scirpus maritimus established at low densities mainly in quadrats where Juncus gerardi was initially absent. Introduction of seeds of Scirpus maritimus in communities of Juncus gerardi under controlled conditions demonstrated the existence of the phenomenon of preemption. The increase in cover of Juncus gerardi suggests that the preemption of Juncus gerardi over Scirpus maritimus plays a more pronounced role in the field in the presence of grazing. 相似文献
107.
108.
The present study describes substance P-like immunoreactivity in the ciliary ganglia of monkey (Macaca fascicularis) and cat. About 60% of neurons in the monkey ciliary ganglion and 40% in the cat ciliary ganglion were substance P-like immunoreactive, ranging from faint to moderate staining. Substance P-like immunoreactivity was located in cell bodies, dendritic profiles and axons. In the monkey, substance P-like immunoreactive pericellular arborisations were associated with about 0.5%–3% of the ganglion cells, which were either negatively, faintly or moderately stained. An electron-microscopic study demonstrated the presence of either substance P-like immunoreactive positive or negative axon terminals synapsing or closely associated with positive dendritic profiles in both the monkey and cat ciliary ganglia. The results suggest that substance P plays an important role in the ciliary ganglion, perhaps as a modulator or transmitter. 相似文献
109.
The effect of ferredoxin(BED) overexpression on benzene dioxygenase activity in Pseudomonas putida ML2. 总被引:3,自引:3,他引:0 下载免费PDF全文
H M Tan C L Joannou C E Cooper C S Butler R Cammack J R Mason 《Journal of bacteriology》1994,176(9):2507-2512
The benzene dioxygenase from Pseudomonas putida ML2 is a multicomponent complex comprising a flavoprotein reductase, a ferredoxin, and a terminal iron-sulfur protein (ISP). The catalytic activity of the isolated complex shows a nonlinear relationship with protein concentration in cell extracts, with the limiting factor for activity in vitro being ferredoxin(BED). The relative levels of the three components were analyzed by using 125I-labelled antibodies, and the functional molar ratio of ISP(BED), ferredoxin(BED), and reductase(BED) was shown to be 1:0.9:0.8, respectively. The concentration of ferredoxin(BED) was confirmed by quantitative electron paramagnetic resonance spectroscopy of the 2Fe-2S centers in ferredoxin(BED) and ISP(BED) of whole cells. These results demonstrate that the ferredoxin(BED) component is a limiting factor in dioxygenase activity in vitro. To determine if it is a limiting factor in vivo, a plasmid (pJRM606) overproducing ferredoxin(BED) was introduced into P. putida ML2. The benzene dioxygenase activity of this strain, measured in cell extracts, was fivefold greater than in the wild type, and the activity was linear with protein concentration in cell extracts above 2 mg/ml. Western blotting (immunoblotting) and electron paramagnetic resonance spectroscopic analysis confirmed an elevated level of ferredoxin(BED) protein and active redox centers in the recombinant strain. However, in these cells, the increased level of ferredoxin(BED) had no effect on the overall rate of benzene oxidation by whole cells. Thus, we conclude that ferredoxin(BED) is not limiting at the high intracellular concentration (0.48 mM) found in cells. 相似文献
110.
Summary An enzyme-immobilized microplate for determination of linamarin was prepared by covalently linking cassava leaf linamarase
to the microplate. For linamarin determination, cassava roots were homogenised in 0.1 Mo-phosphoric acid and the filtrate adjusted to pH 6 with NaOH prior to adding into the wells. The cyanide released was then
determined spectrophotometrically. One nmol linamarin can be detected. The microplate method is suitable for analysis of large
number of samples and is useful for screening purposes. 相似文献