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41.
Physical mapping of the von Recklinghausen neurofibromatosis region on chromosome 17 总被引:15,自引:9,他引:6 下载免费PDF全文
Jane W. Fountain Margaret R. Wallace Anne M. Brereton Peter O''''Connell Raymond L. White Donna C. Rich David H. Ledbetter Robin J. Leach R. E. Keith Fournier Anil G. Menon James F. Gusella David Barker Karen Stephens Francis S. Collins 《American journal of human genetics》1989,44(1):58-67
The von Recklinghausen neurofibromatosis (NF1) locus has been linked to chromosome 17, and recent linkage analyses place the gene on the proximal long arm. NF1 probably resides in 17q11.2, since two unrelated NF1 patients have been identified who possess constitutional reciprocal translocations involving 17q11.2 with chromosomes 1 and 22. We have used a somatic-cell hybrid from the t(17;22) individual, along with other hybrid cell lines, to order probes around the NF1 locus. An additional probe, 17L1, has been isolated from a NotI linking library made from flow-sorted chromosome 17 material and has been mapped to a region immediately proximal to the translocation breakpoint. While neither NF1 translocation breakpoint has yet been identified by pulse-field gel analysis, an overlap between two probes, EW206 and EW207, has been detected. Furthermore, we have identified the breakpoint in a non-NF1 translocation, SP-3, on the proximal side of the NF1 locus. This breakpoint has been helpful in creating a 1,000-kb pulsed-field map, which includes the closely linked NF1 probes HHH202 and TH17.19. The combined somatic-cell hybrid and pulsed-field gel analysis we report here favors the probe order D17Z1-HHH202-TH17.19-CRYB1-17L1-NF1- (EW206, EW207, EW203, L581, L946)-(ERBB2, ERBA1). The agreement in probe ordering between linkage analysis and physical mapping is excellent, and the availability of translocation breakpoints in NF1 should now greatly assist the cloning of this locus. 相似文献
42.
In West Africa, rice is grown in three constrasting ecosystems, upland, phreatic, and lowland, which is characterized by differing
water availability and soil properties. These ecosystems influence the predisposition of rice to disease problems, including
the grain discoloration complex. Discoloration of the hull was found to be most severe in the upland, less in the phreatic,
and least in the water-saturated lowland ecosystem. Caryopsis discoloration, however, showed no consistent pattern in relation
to the three ecosystems and was not correlated with hull discoloration, indicating that other factors are involved. 相似文献
43.
The reactions of cadmium halides with the 15-membered macrocyclic crown ethers, 15-crown-5 and benzo-15-crown-5, have been carried out and six new complexes have been isolated and structurally characterized. Metal to ligand stoichiometries of 1:1, 2:1, 3:1 and 3:2 have been observed with a variety of different formulations. Examples of charge separated ion pairs ([(NH4)(benzo-15-crown-5)2]2[Cd2I6]), halogen bridged monomers, dimers or polymers ([Cd(15-crown-5)(OHMe)(μ-Br)CdBr3], [Cd(15-crown-5)(μ-Br)2CdBr(μ-Br)]2(isolated from the same reaction mixture) and [(CdCl2)2CdCl2(15-crown-5)]n), and hydrogen bonded finite chains or polymers ([(Cd(OH2)2(15-crown-5)][CdI3(OH2)]2·2(15-crown-5)·2CH3CN and [CdI2(OH2)2(THF)]·benzo-15-crown-5) have been isolated. Three different types of 15-crown-5 coordination modes have been observed in these complexes. In-cavity coordination resulting in pentagonal bipyramidal geometries about Cd2+ was observed in [(CdCl2)2CdCl2(15-crown-5)]n, [Cd(15-crown-5)(OHMe)(μ-Br)CdBr3], and [Cd(OH2)2(15-crown-5)][CdI3(OH2)]2·2(15-crown-5)·2CH3CN, [Cd(15-crown-5)(μ-Br)2CdBr(μ-Br)]2 displays out-of-cavity coordination with one etheric donor distorted into an axial position of a distorted pentagonal bipyramid. The third coordination mode is secondary sphere coordination via hydrogen bonding which is observed for [Cd(OH2)2(15-crown-5)][CdI3(OH2)]2·2(15-crown-5)·2CH3CN. The good fit of Cd2+ within the cavity of 15-crown-5 results in shorter bonding contacts and a more narrow distribution in Cd---O values (2.273(7)-2.344(6) Å) than observed for cadmium halide complexes of 18-crown-6 (Cd---O = 2.69(1)–2.81(1) Å). 相似文献
44.
Robin Kennish 《Oecologia》1996,105(1):22-29
The tropical rocky shore crab Grapsus albolineatus feeds primarily on filamentous algae but eats animal matter whenever it is available. During the summer the crab's diet switches to encrusting algae due to a die-off of filamentous algae. As a result of the switch the nutrients in the diet of the crab vary seasonally and may influence the fitness of the crab. Maintenance, growth, reproductive performance and nutrient storage of crabs were examined under four dietary regimes of increasing nutritional value ranging from low organic to high protein content. The nutritional quality of these diets significantly affected crab survival and moulting. Crabs fed on the nutritionally superior diet of algae and meat exhibited enhanced growth, higher levels of energy in the reproductive organs and stored more energy in the hepatopancreas than did individuals on the shore and crabs fed only on algal diets in the laboratory. Filamentous algae were a better food source than other algae, resulting in fewer deaths and superior levels of maintenance and growth. Growth and maintenance can occur on a pure algal diet, but reproductive performance and nutrient storage require some degree of added nutrients in the form of animal matter in the diet. Crabs fed coralline or foliose algae had higher mortality and fewer successful moults than crabs fed the other two diets. The fitness of G. albolineatus appears to be limited by the amount of extra nutrients obtained from animal matter. The opportunistic consumption of animal material in the form of carrion, or of animals associated with dietary algae, could be a key factor in the reproductive success of this crab. 相似文献
45.
A crown rot disease in wheat caused by the fungusFusarium graminearum Schw. Group 1 is a widespread problem in chronically Zn-deficient Australian soils. A link between crown rot and Zn deficiency
was established by Sparrow and Graham (1988). This paper reports a test of a further hypothesis, that wheat genotypes more
efficient at extracting zinc from low-zinc soils are more resistant to infection by this pathogen. Three wheat cultivars (Excalibur,
Songlen and Durati) of differential Zn efficiency were tested at three zinc levels (0.05, 0.5 and 2.0 mg Zn kg−1 of soil) and three levels ofF. graminearum S. Group 1 inoculum (0.1 g and 0.3 g kg−1 live chaff-inoculum and control having 0.1 g kg−1 dead chaff inoculum). Six weeks after sowing dry matter production of shoots and roots was decreased byFusarium inoculation at 0.05 mg and 0.5 mg kg−1 applied Zn.Fusarium inoculum at 0.1 g was as effective as 0.3 g kg−1 for infection and decreasing dry matter. The infection at the basal part of culm decreased significantly by increasing the
rate of Zn application. Excalibur, a Zn-efficient cultivar (tolerant to Zn deficiency) produced significantly more shoot and
root dry matter, and showed less disease infection compared with Zn-inefficient cultivars (Durati and Songlen) at low (0.05
mg Zn kg−1 soil) and medium (0.5 mg Zn kg−1 soil) Zn fertilization rates. Higher rate of Zn fertilization (2.0 mg Zn kg−1 soil) reduced the disease level in Durati to the level of Excalibur but the disease level of Songlen was still high, indicating
its high Zn requirement and or sensitivity to crown rot. The data on Zn uptake show that Excalibur, being Zn-efficient, was
able to scavenge enough Zn from Zn-deficient soil, we suggest that besides sustaining growth Excalibur was able to build and
maintain resistance to the pathogen; inefficient cultivars needed extra Zn fertilization to achieve performance comparable
to that of Excalibur. The present study indicates that growing Zn-efficient cultivars of wheat along with judicious use of
Zn fertilizer in Zn-deficient areas where crown rot is a problem may sustain wheat production by reducing the severity of
the disease as well as by increasing the plant vigour through improved Zn nutrition. ei]Section editor: R Rodriques-Kalana 相似文献
46.
Analyses of dental function are an essential component of the study of human evolution. However, with few exceptions, they have utilized the traditional analogizing method of comparative anatomy, and have assumed rather than demonstrated that proposed adaptive characters confer a performance benefit. Since food reduction is a mechanical process, it is appropriate to measure performance using mechanical parameters, specifically the ability of a given morphology to induce failure in food particle by either of the two major regimes: crush and shear, corresponding to simple stresses (tensile and compressive) and shear stress, respectively. We apply finite elements stress analysis to model the relationship between the angulation of the intercuspal occlusal surfaces in a “puncture crushing” mode of mastication. On the basis of morphological data acquired from sectioned great ape molars, we have predicted the nature, magnitude and distribution of stress in a standard food particle by models representing each morphotype. Results indicate that the blunt-cusped molars ofHomo, the gradually-sloping supporting (buccal) cusps but high-angled guiding (lingual) cusps of the lower molars ofPan, and the high angled occlusal surfaces ofGorillaare all more likely to fracture small food particles by shear, while the gradually sloping occlusal surfaces ofPongomolars are more likely to break them down by “crush”. Mechanisms of food failure induced by molars ofPanandHomowill vary according to the orientation of the tooth–food contacting surfaces, which in turn will vary according to the size of the food particle. These genera may be able to break food down either by shear or by “crush”. 相似文献
47.
Inhibition of lignin biosynthesis in Triticum aestivum L. rootsby Mn deficiency has been suggested as the mechanism of reducedresistance of Mn-deficient wheat roots to infection by the take-allfungus (Gaeumannomyces graminis var. tritici). This study evaluatedphenolics and lignin accumulation in roots of wheat genotypesdiffering in Mn efficiency (measured as growth and yield inMn-deficient soils) and take-all resistance. Seedlings of theMn-inefficient, take-all sensitive genotype Bayonet and theMn-efficient, more take-all resistant genotype C8MM were grownin nutrient solution without added Mn for 18 d and then transferredto a Mn-deficient sandy soil fertilized with Mn at 0 or 30 mgkg-1. Both genotypes had Mn-deficient roots and shoots at thetime of transfer to the soil. Roots of both genotypes were inoculatedwith the take-all fungus 0, 1, 3 and 7 d after transfer. Twenty-fourhours after inoculation, take-all fungus penetrated the rootstele of take-all sensitive Bayonet but not of more resistantC8MM wheat. Rates of phenolics and lignin accumulation in rootsdeclined steadily during growth in soil for up to 8 d, werehigher in mature, fully differentiated parts of the root systemcompared to distal, younger root tissue, and were higher inBayonet than in C8MM. Manganese fertilization did not significantlyinfluence rates of phenolics and lignin accumulation but reduceddepth of radial penetration by hyphae in both genotypes. Therate of phenolics accumulation was positively (r = 0·91to 0·96) correlated with the rate of lignin accumulation.Mn-efficient C8MM had a higher rate of lignin accumulation perunit of phenolics than Mn-inefficient Bayonet over a wide rangeof phenolics synthesis rates. From this we suggest that C8MMhas a more efficient mechanism for conversion of phenolics tolignin, the trait which appears related to higher take-all resistanceof this genotype.Copyright 1994, 1999 Academic Press Gaeumannomyces graminis var. tritici, lignin, manganese, phenolics, resistance, roots, Triticum aestivum 相似文献
48.
Mismatch Repair Genes on Chromosomes 2p and 3p Account for a Major Share of Hereditary Nonpolyposis Colorectal Cancer Families Evaluable by Linkage 总被引:17,自引:1,他引:16 下载免费PDF全文
Minna Nystrm-Lahti Ramon Parsons Pertti Sistonen Lea Pylkknen Lauri A. Aaltonen Fredrick S. Leach Stanley R. Hamilton Patrice Watson Earlene Bronson Ramon Fusaro Jennifer Cavalieri Jane Lynch Stephen Lanspa Tom Smyrk Patrick Lynch Thomas Drouhard Kenneth W. Kinzler Bert Vogelstein Henry T. Lynch Albert de la Chapelle Pivi Peltomki 《American journal of human genetics》1994,55(4):659-665
Two susceptibility loci for hereditary nonpolyposis colo-rectal cancer (HNPCC) have been identified, and each contains a mismatch repair gene: MSH2 on chromosome 2p and MLH1 on chromosome 3p. We studied the involvement of these loci in 13 large HNPCC kindreds originating from three different continents. Six families showed close linkage to the 2p locus, and a heritable mutation of the MSH2 gene was subsequently found in four. The 2p-linked kindreds included a family characterized by the lack of extracolonic manifestations (Lynch I syndrome), as well as two families with cutaneous manifestations typical of the Muir-Torre syndrome. Four families showed evidence for linkage to the 3p locus, and a heritable mutation of the MLH1 gene was later detected in three. One 3p-linked kindred was of Amerindian origin. Of the remaining three families studied for linkage, one showed lod scores compatible with exclusion of both MSH2 and MLH1, while lod scores obtained in the other two families suggested exclusion of one HNPCC locus (MSH2 or MLH1) but were uninformative for markers flanking the other locus. Our results suggest that mismatch repair genes on 2p and 3p account for a major share of HNPCC in kindreds that can be evaluated by linkage analysis. 相似文献
49.
Tesniere C.; Romieu C.; Dugelay I.; Nicol M.Z.; Flanzy C.; Robin J.P. 《Journal of experimental botany》1994,45(1):145-151
The metabolic changes of mature grape berries during periodsof anoxia and upon return to air were examined using two cultivars.Glutamate declined during anoxia, together with a correspondingaccumulation of -aminobutyrate (GABA). The reverse occurredduring a 24 h period of air. Total adenine nucleotide (AdN),ATP level, and adenylate energy charge (AEC) all declined duringperiods of anoxia but showed a reversible pattern upon subsequentaeration. However, aerobic recovery of metabolite levels wasnot observed when the duration of anoxia at 30°C exceeded6 d. Accumulated ethanol during anoxia (up to 0.22 M) triggered afurther increase in the rate of ethanol synthesis when stressedberries were returned to air. Ethanol may be the principal determinantgoverning the ability of grapes to withstand and recover fromanoxic stress. We propose that the imbalance between aerobicand fermentative pathways may be due to the ability of ethanolto impair mitochondrial membrane function and uncouple oxidativephosphorylation, the rate of anaerobic respiration being insufficientto meet energy requirements. Key words: Grape, energy metabolism, anaerobic stress, aeration, ethanol production 相似文献
50.
Abstract: cis -Methyldioxolane (CD) is a muscarinic receptor agonist. [3 H] CD has been used to label a subpopulation of muscarinic receptors described as exhibiting high agonist affinity. Pharmacological evidence suggests that the population of receptors labeled by [3 H] CD consists of m2 and/or m4 subtypes; however, no studies have directly addressed the subtype selectivity of [3 H] CD. The present study characterizes binding of this ligand to individual human receptor subtypes expressed in transfected Chinese hamster ovary cells. Results indicate that [3 H] CD binds with high affinity only to Hm2 receptors but not to all Hm2 receptors. Twenty-eight percent of Hm2 receptors bound [3 H] CD with a K D of 3.5 ± 0.5 nM. Binding was eliminated in the presence of guanosine 5'- O -(3-thiotriphosphate), indicating that the Hm2 receptors labeled by [3 H] CD are those that are associated with GDP-bound G protein. Binding of [3 H] CD by only a subpopulation of Hm2 receptors is in agreement with data generated from studies of [3 H] CD binding in mammalian brain. Because muscarinic receptors have been implicated to play a role in the pathogenesis of both Alzheimer's and Parkinson's disease, as well as the neurotoxicity of organophosphorus compounds, knowledge of the binding specificity of the muscarinic agonist [3 H] CD should aid research in these areas. 相似文献