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61.
Roelof-Jan Oostra Stephan Kemp Pieter A. Bolhuis Elisabeth M. Sleeker-Wagemakers 《Human genetics》1996,97(4):500-505
Leber’s hereditary optic neuropathy (LHON) is a maternally inherited disorder of the optic nerves. It has been proposed that
the specific mutations in the mitochondrial DNA (mtDNA) that are associated with LHON require and X-chromosomally encoded
permissive factor in order to become expressed. This would explain both the preponderance of male patients and the fact that
most carriers of specific mtDNA mutations remain unaffected. Although linkage studies have been negative so far, the existence
of such a factor has not been ruled out. We investigated the genealogical data of 24 large LHON pedigrees and concluded that
the presumed X-linked factor would be recessively inherited and that at least 57% of the affected females would be heterozygous.
Therefore, these females must be the victim of nonrandom X-chromosomal inactivation (skewed lyonization). However, analysis
of X-chromosomal methylation patterns in 16 LHON-affected females revealed substantial skewing in only 15%–20% of cases, which
is not significantly different from the patterns in 49 controls. Moreover, we found the frequency of LHON in daughters of
affected heterozygous females to be twice to three times as high as in daughters of unaffected heterozygous females, which
cannot be explained by an X-chromosomally inherited factor. We conclude that the results of our investigations do not support
the hypothesis that LHON is a digenic disease with an X-linked factor being the main cause of loss of vision in the presence
of relevant mtDNA mutations.
Received: 1 June 1995 / Revised: 20 September 1995 相似文献
62.
Introduction of sense and antisense cDNA for branching enzyme in the amylose-free potato mutant leads to physico-chemical changes in the starch 总被引:5,自引:0,他引:5
E. Flipse L. Suurs C. J. A. M. Keetels J. Kossmann E. Jacobsen R. G. F. Visser 《Planta》1996,198(3):340-347
One isoform of the branching enzyme (BE; EC 2.4.1.18) of potato (Solarium tuberosum L.) is known and catalyses the formation of α-1,6 bonds in a glucan chain, resulting in the branched starch component amylopectin. Constructs containing the antisense or sense-orientated distal 1.5-kb part of a cDNA for potato BE were used to transform the amylose-free (amf) mutant of potato, the starch of which stains red with iodine. The expression of the endogenous BE gene was inhibited either largely or fully as judged by the decrease or absence of the BE mRNA and protein. This resulted in a low percentage of starch granules with a small blue core and large red outer layer. There was no effect on the amylose content, degree of branching or λmax of the iodine-stained starch. However, when the physico-chemical properties of the different starch suspensions were assessed, differences were observed, which although small indicated that starch in the transformants was different from that of theamf mutant. 相似文献
63.
E. Flipse C. J. A. M. Keetels E. Jacobsen R. G. F. Visser 《TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik》1996,92(1):121-127
A gene-dosage population was obtained by crossing two genotypes that were duplex for the GBSS allele. Nulliplex, simplex, duplex or triplex/quadruplex plants could be identified by monitoring the segregation of red and blue microspores after staining with iodine. GBSS activity was significantly different for all groups and showed an almost linear dosage effect for the wildtype GBSS gene. A dosage effect was found for amylose content that was not linear. The amylose content was similar for both the duplex and triplex/quadruplex group. Within the simplex group, differences in amylose content were found, which might be due to a different genetic background. There was no linear correlation between GBSS activity and amylose content. A certain level of GBSS activity led to a maximum amount of amylose, and further increase in GBSS activity did not result in a further increase in amylose content. The presence of one or more wildtype GBSS allele(s), and therefore the presence of amylose in the starch granules, had a great influence on the physico-chemical properties of the starch suspensions. 相似文献
64.
Molecular cloning and expression in Saccharomyces cerevisiae of two Aspergillus nidulans xylanase genes. 总被引:3,自引:1,他引:2
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Two Aspergillus nidulans genes, xlnA and xlnB, encoding the X22 and X24 xylanases from this fungus, respectively, have been cloned and sequenced. Their cDNAs have been expressed in a laboratory Saccharomyces cerevisiae strain under the control of a constitutive yeast promoter, resulting in the construction of recombinant xylanolytic yeast strains. 相似文献
65.
Kazutoyo Osoegawa Rie Susukida Saishi Okano Jun Kudoh Shinsei Minoshima Nobuyoshi Shimizu Pieter J. de Jong Juergen Groet Jane Ives Hans Lehrach Dean Nizetic Eiichi Soeda 《Genomics》1996,32(3):375
The major phenotypic features of Down syndrome have been correlated with partial trisomies of chromosome 21, allowing us to define the candidate gene region to a 4-Mb segment on the 21q22.2 band. We present here a high-resolution physical map with megabase-sized cosmid/PAC contigs. This ordered clone library has provided unique material for the integration of a variety of mappable objects, including exons, cDNAs, restriction sites, etc. Furthermore, our results have exemplified a strategy for the completion of the chromosome 21 map to sequencing. 相似文献
66.
Jaep de Boer Hillie Plijter-Groendijk Klaas R. Visser Gerrit A. Mook Jakob Korf 《European journal of applied physiology and occupational physiology》1994,69(4):281-286
We have evaluated the possibility of monitoring the plasma lactate concentration in human volunteers during cycle ergometer exercise using subcutaneous and transcutaneous microdialysis. In transcutaneous microdialysis, the relative increase in dialysate lactate concentration exceeded that of plasma lactate concentration by a factor of 6 during exercise due to exercise-induced lactate secretion in sweat. During exercise the subcutaneous microdialysis dialysate lactate concentration underestimated the plasma lactate concentration possibly due to diffusion limitation or adipose tissue lactate production. While it was demonstrated that microdialysis can be used for on-line lactate monitoring, neither subcutaneous nor transcutaneous dialysate lactate concentration were linearly related to the plasma lactate concentration during exercise, and it was found therefore that it was not possible to monitor directly plasma lactate concentration during exercise. 相似文献
67.
Time-resolved fluorescence studies of dityrosine in the outer layer of intact yeast ascospores. 总被引:1,自引:1,他引:0
The (time-resolved) fluorescence properties of dityrosine in the outermost layer of the spore wall of Saccharomyces cerevisiae were investigated. Steady-state spectra revealed an emission maximum at 404 nm and a corresponding excitation maximum at 326 nm. The relative fluorescence quantum yield decreased with increasing proton concentration. The fluorescence decay of yeast spores was found to be nonexponential and differed pronouncedly from that of unbound dityrosine in water. Analysis of the spore decay recorded at lambda ex = 323 nm and lambda em = 404 nm by an exponential series (ESM) algorithm revealed a bimodal lifetime distribution with maxima centered at tau 1C = 0.5 ns and tau 2C = 2.6 ns. The relative amplitudes of the two distributions are shown to depend on the emission wavelength, indicating contributions from spectrally different dityrosine chromophores. On quenching the spore fluorescence with acrylamide, a downward curvature of the Stern-Volmer plot was obtained. A multitude of chromophores more or less shielded from solvent in the spore wall is proposed to account for the nonlinear quenching of the total spore fluorescence. Analysis of the fluorescence anisotropy decay revealed two rotational correlation times (phi 1 = 0.9 ns and phi 2 = 30.6 ns) or a bimodal distribution of rotational correlation times (centers at 0.7 ns and 40 ns) when the data were analyzed by the maximum entropy method (MEM). We present a model that accounts for the differences between unbound (aqueous) and bound (incorporated in the spore wall) dityrosine fluorescence. The main feature of the photophysical model for yeast spores is the presence of at least two species of dityrosine chromophores differing in their chemical environments. A hypothetical photobiological role of these fluorophores in the spore wall is discussed: the protection of the spore genome from mutagenic UV light. 相似文献
68.
Enzymes of glucose and methanol metabolism in the actinomycete Amycolatopsis methanolica. 总被引:5,自引:2,他引:3
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A M Alves G J Euverink H J Hektor G I Hessels J van der Vlag J W Vrijbloed D Hondmann J Visser L Dijkhuizen 《Journal of bacteriology》1994,176(22):6827-6835
The actinomycete Amycolatopsis methanolica was found to employ the normal bacterial set of glycolytic and pentose phosphate pathway enzymes, except for the presence of a PPi-dependent phosphofructokinase (PPi-PFK) and a 3-phosphoglycerate mutase that is stimulated by 2,3-bisphosphoglycerate. Screening of a number of actinomycetes revealed PPi-PFK activity only in members of the family Pseudonocardiaceae. The A. methanolica PPi-PFK and 3-phosphoglycerate mutase enzymes were purified to homogeneity. PPi-PFK appeared to be insensitive to the typical effectors of ATP-dependent PFK enzymes. Nevertheless, strong N-terminal amino acid sequence homology was found with ATP-PFK enzymes from other bacteria. The A. methanolica pyruvate kinase was purified over 250-fold and characterized as an allosteric enzyme, sensitive to inhibition by P(i) and ATP but stimulated by AMP. By using mutants, evidence was obtained for the presence of transketolase isoenzymes functioning in the pentose phosphate pathway and ribulose monophosphate cycle during growth on glucose and methanol, respectively. 相似文献
69.
Insect resistance of transgenic plants that express modified Bacillus thuringiensis cryIA(b) and cryIC genes: a resistance management strategy 总被引:7,自引:0,他引:7
70.
Sulfate reduction in methanogenic bioreactors 总被引:9,自引:0,他引:9
Stefanie J.W.H. Oude Elferink ré Visser Look W. Hulshoff Pol Alfons J.M. Stams 《FEMS microbiology reviews》1994,15(2-3):119-136
Abstract: In the anaerobic treatment of sulfate-containing wastewater, sulfate reduction interferes with methanogenesis. Both mutualistic and competitive interactions between sulfate-reducing bacteria and methanogenic bacteria have been observed. Sulfate reducers will compete with methanogens for the common substrates hydrogen, formate and acetate. In general, sulfate reducers have better growth kinetic properties than methanogens, but additional factors which may be of importance in the competition are adherence properties, mixed substrate utilization, affinity for sulfate of sulfate reducers, relative numbers of bacteria, and reactor conditions such as pH, temperature and sulfide concentration. Sulfate reducers also compete with syntrophic methanogenic consortia involved in the degradation of substrates like propionate and butyrate. In the absence of sulfate these methanogenic consortia are very important, but in the presence of sulfate they are thought to be easily outcompeted by sulfate reducers. However, at relatively low sulfate concentrations, syntrophic degradation of propionate and butyrate coupled to HZ removal via sulfate reduction rather than via methanogenesis may become important. A remarkable feature of some sulfate reducers is their ability to grow fermentatively or to grow in syntrophic association with methanogens in the absence of sulfate. 相似文献