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61.
Osteoarthritis-susceptibility locus on chromosome 11q, detected by linkage. 总被引:9,自引:0,他引:9
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K Chapman Z Mustafa C Irven A J Carr K Clipsham A Smith J Chitnavis J S Sinsheimer V A Bloomfield M McCartney O Cox L R Cardon B Sykes J Loughlin 《American journal of human genetics》1999,65(1):167-174
We present a two-stage genomewide scan for osteoarthritis-susceptibility loci, using 481 families that each contain at least one affected sibling pair. The first stage, with 272 microsatellite markers and 297 families, involved a sparse map covering 23 chromosomes at intervals of approximately 15 cM. Sixteen markers that showed evidence of linkage at nominal P=.05 were then taken through to the second stage, with an additional 184 families. This second stage confirmed evidence of linkage for markers on chromosome 11q. Additional markers from this region were then typed to create a denser map. We obtained a maximum single-point LOD score, at D11S901, of 2.40 (P=.0004) and a maximum multipoint-LOD score of 3.15, between markers D11S1358 and D11S35. A subset of 196 of the 481 families, comprising affected female sibling pairs, generated a corrected LOD score of 2.54 (P=.0003) for marker D11S901, with evidence for linkage extending 12 cM proximal to this marker. When we stratified for affected male sibling pairs there was no evidence of linkage to chromosome 11. Our data suggest that a female-specific susceptibility gene for idiopathic osteoarthritis is located on chromosome 11q. 相似文献
62.
Patterns of root/shoot carbon allocation within plants have been studied at length. The extent, however, to which patterns of carbon allocation from shoots to roots affect the timing and quantity of organic carbon release from roots to soil is not known. We employed a novel approach to study how natural short-term variation in the allocation of carbon to roots may affect rhizosphere soil biology. Taking advantage of the semi-determinate phenology of young northern red oak (Quercus rubra L.), we examined how pulsed delivery of carbon from shoots to roots affected dynamics of soil respiration as well as microbial biomass and net nitrogen mineralization in the rhizosphere. Young Q. rubra exhibit (1) clear switches in the amount of carbon allocated below-ground that are non-destructively detected simply by observing pulsed shoot growth above-ground, and (2) multiple switches in internal carbon allocation during a single growing season, ensuring our ability to detect short-term effects of plant carbon allocation on rhizosphere biology separate from longer-term seasonal effects. In both potted oaks and oaks rooted in soil, soil respiration varied inversely with shoot flush stage through several oak shoot flushes. In addition, upon destructive harvest of potted oaks, microbial biomass in the rhizosphere of saplings with actively flushing shoots was lower than microbial biomass in the rhizosphere of saplings with shoots that were not flushing. Given that plants have evolved with their roots in contact with soil microbes, known species-specific carbon allocation patterns within plants may provide insight into interactions among roots, symbionts, and free-living microbes in the dynamic soil arena. 相似文献
63.
Decomposition dynamics in mixed-species leaf litter 总被引:57,自引:1,他引:57
Literature on plant leaf litter decomposition is substantial, but only in recent years have potential interactions among leaves of different species during decomposition been examined. We review emerging research on patterns of mass loss, changes in nutrient concentration, and decomposer abundance and activity when leaves of different species are decaying in mixtures. Approximately 30 papers have been published that directly examine decomposition in leaf mixtures as well as in all component species decaying alone. From these litter‐mix experiments, it is clear that decomposition patterns are not always predictable from single‐species dynamics. (Characteristics of decomposition in litter‐mixes that deviate from responses predicted from decomposition of single‐species litters alone are designated "non‐additive"; "additive" responses in mixes are predictable from component species decaying alone.) Non‐additive patterns of mass loss were observed in 67% of tested mixtures; mass loss is often (though not always) increased when litters of different species are mixed. Observed mass loss in some mixtures is as much as 65% more extensive than expected from decomposition of single‐species litter, but more often mass loss in mixtures exceeds expected decay by 20% or less. Nutrient transfer among leaves of different species is striking, with 76% of the mixtures showing non‐additive dynamics of nutrient concentrations. Non‐additive patterns in the abundance and activity of decomposers were observed in 55% and 65% of leaf mixes, respectively. We discuss some methodological details that likely contribute to conflicting results among mixed‐litter studies to date. Enough information is available to begin formulating mechanistic hypotheses to explain patterns in litter‐mix experiments. Emerging patterns in the mixed‐litter decomposition literature have implications for relationships between biodiversity and ecosystem function (in this case, the function being decomposition), and for potential mechanisms through which invasive plant species could alter carbon and nutrient dynamics in ecosystems. 相似文献
64.
A genomewide scan for loci predisposing to type 2 diabetes in a U.K. population (the Diabetes UK Warren 2 Repository): analysis of 573 pedigrees provides independent replication of a susceptibility locus on chromosome 1q 总被引:19,自引:0,他引:19
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Wiltshire S Hattersley AT Hitman GA Walker M Levy JC Sampson M O'Rahilly S Frayling TM Bell JI Lathrop GM Bennett A Dhillon R Fletcher C Groves CJ Jones E Prestwich P Simecek N Rao PV Wishart M Bottazzo GF Foxon R Howell S Smedley D Cardon LR Menzel S McCarthy MI 《American journal of human genetics》2001,69(3):553-569
Improved molecular understanding of the pathogenesis of type 2 diabetes is essential if current therapeutic and preventative options are to be extended. To identify diabetes-susceptibility genes, we have completed a primary (418-marker, 9-cM) autosomal-genome scan of 743 sib pairs (573 pedigrees) with type 2 diabetes who are from the Diabetes UK Warren 2 repository. Nonparametric linkage analysis of the entire data set identified seven regions showing evidence for linkage, with allele-sharing LOD scores > or =1.18 (P< or =.01). The strongest evidence was seen on chromosomes 8p21-22 (near D8S258 [LOD score 2.55]) and 10q23.3 (near D10S1765 [LOD score 1.99]), both coinciding with regions identified in previous scans in European subjects. This was also true of two lesser regions identified, on chromosomes 5q13 (D5S647 [LOD score 1.22] and 5q32 (D5S436 [LOD score 1.22]). Loci on 7p15.3 (LOD score 1.31) and 8q24.2 (LOD score 1.41) are novel. The final region showing evidence for linkage, on chromosome 1q24-25 (near D1S218 [LOD score 1.50]), colocalizes with evidence for linkage to diabetes found in Utah, French, and Pima families and in the GK rat. After dense-map genotyping (mean marker spacing 4.4 cM), evidence for linkage to this region increased to a LOD score of 1.98. Conditional analyses revealed nominally significant interactions between this locus and the regions on chromosomes 10q23.3 (P=.01) and 5q32 (P=.02). These data, derived from one of the largest genome scans undertaken in this condition, confirm that individual susceptibility-gene effects for type 2 diabetes are likely to be modest in size. Taken with genome scans in other populations, they provide both replication of previous evidence indicating the presence of a diabetes-susceptibility locus on chromosome 1q24-25 and support for the existence of additional loci on chromosomes 5, 8, and 10. These data should accelerate positional cloning efforts in these regions of interest. 相似文献
65.
A characteristic feature of the sperm P1 protamines of eutherian mammals is
the constant presence of six to nine cysteine residues per molecule. During
spermiogenesis these residues become oxidized to form a three-dimensional
network of disulfide bridges between, and within, protamine molecules in
the sperm chromatin. This covalent cross linking strongly stabilizes
eutherian sperm nuclei. In contrast, protamines sequenced from teleost
fish, birds, monotremes, and marsupials all lack cysteine residues and
their sperm nuclei, without the stabilizing cross links, are easily
decondensed in vitro. We have now found that one genus of tiny, shrewlike
dasyurid marsupials, the Planigales, possess P1 protamines containing five
to six cysteine residues. These residues appear to have evolved since the
divergence of Planigales from other members of the family Dasyuridae, such
as the marsupial mouse, Sminthopsis crassicaudata. We believe this
constitutes a case of convergent evolution in a subfamily of dasyurid
marsupials toward the cysteine-rich eutherian form of sperm protamine P1.
相似文献
66.
Direct Spectrophotometric Measurement of Photosystem I and Photosystem II Activities of Photosynthetic Membrane Preparations from Cyanophora paradoxa, Phormidium laminosum, and Spinach
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Vesicles prepared with the French press from membranes of cyanelles of Cyanophora paradoxa retain O2 evolution activity with rates up to 500 micromoles 2,6-dichlorophenolindophenol reduced per hour per milligram chlorophyll. This activity is immediately lost when the vesicles are transferred from the sucrose-phosphate-citrate preparation buffer into dilute phosphate buffer. Similar preparations from Phormidium laminosum, a thermophilic cyanobacterium retain activity under such conditions. Photosystem I activities of both cyanobacterial vesicle preparations were determined by direct spectrophotometric measurement of N,N,N′,N′-tetramethyl-p-phenylenediamine photooxidation in the presence of anthraquinone-2-sulfonate. The rates so determined were compared with rates of O2 taken up in the presence of methyl viologen or anthraquinone-2-sulfonate as electron acceptors. The predicted stoichiometry of two was observed for moles of N,N,N′,N′-tetramethyl-p-phenylenediamine oxidized per mole of oxygen taken up. Anthraquinone-2-sulfonate was the better electron acceptor, and maximal rates of 943 micromoles per hour per milligram chlorophyll for O2 uptake were observed for Phormidium laminosum preparations in the presence of superoxide dismutase. For purposes of comparison, spinach chloroplasts were assayed for similar activities. All preparations were readily assayed for photosystem I activity by the direct spectrophotometric method, which has advantages of simplicity and freedom from errors introduced by photoxidation of other substrates by photosystem I when O2 uptake is measured. 相似文献
67.
A common dilemma arising in linkage studies of complex genetic diseases is the selection of positive signals, their follow-up with association studies and discrimination between true and false positive results. Several strategies for overcoming these issues have been devised. Using the Genetic Analysis Workshop 14 simulated dataset, we aimed to apply different analytical approaches and evaluate their performance in discerning real associations. We considered a) haplotype analyses, b) different methods adjusting for multiple testing, c) replication in a second dataset, and d) exhaustive genotyping of all markers in a sufficiently powered, large sample group. We found that haplotype-based analyses did not substantially improve over single-point analysis, although this may reflect the low levels of linkage disequilibrium simulated in the datasets provided. Multiple testing correction methods were in general found to be over-conservative. Replication of nominally positive results in a second dataset appears to be less stringent, resulting in the follow-up of false positives. Performing a comprehensive assay of all markers in a large, well-powered dataset appears to be the most effective strategy for complex disease gene identification. 相似文献
68.
69.
70.
A convenient method for methylation of glycoprotein glycans in small amounts by using lithium methylsulfinyl carbanion 总被引:8,自引:0,他引:8
J P Parente P Cardon Y Leroy J Montreuil B Fournet G Ricart 《Carbohydrate research》1985,141(1):41-47
Treatment of dimethyl sulfoxide with butyllithium leads to rapid formation of lithium methylsulfinyl carbanion. The reaction products tend to be significantly freer from impurities when lithium methylsulfinyl carbanion is used rather than sodium or potassium methylsulfinyl carbanion. This reagent gives less background in g.l.c. and thus may be used to methylate micro-quantities of glycoprotein glycans (down to 10 micrograms) without the necessity of identifying methyl ethers by mass spectrometry. 相似文献