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951.
A Stargardt disease-3 mutation in the mouse Elovl4 gene causes retinal deficiency of C32-C36 acyl phosphatidylcholines 总被引:1,自引:0,他引:1
Stargardt disease-3 (STGD3) is a juvenile dominant macular degeneration caused by mutations in elongase of very long chain fatty acid-4. All identified mutations produce a truncated protein which lacks a motif for protein retention in endoplasmic reticulum, the site of fatty acid synthesis. In these studies of Stgd3-knockin mice carrying a human pathogenic mutation, we examined two potential pathogenic mechanisms: truncated protein-induced cellular stress and lipid product deficiency. Analysis of mutant retinas detected no cellular stress but demonstrated selective deficiency of C32-C36 acyl phosphatidylcholines. We conclude that this deficit leads to the human STGD3 pathology. 相似文献
952.
Birth weight has been shown to be associated with obesity and metabolic diseases in adulthood, however, the genetic contribution
is still controversial. The objective of this analysis is to explore the genetic contribution to the relationship between
birth weight and later risk for obesity and metabolic diseases in Hispanic children. Subjects were 1,030 Hispanic children
in the Viva La Familia Study. Phenotypes included body size, body composition, blood pressure, fasting glucose, insulin, lipids,
and liver enzymes. Birth weights were obtained from Texas birth certificates. Quantitative genetic analyses were conducted
using SOLAR software. Birth weight was highly heritable, as were all other phenotypes. Phenotypically, birth weight was positively
correlated to childhood body size parameters. Decomposition of these phenotypic correlations into genetic and environmental
components revealed significant genetic correlations, ranging from 0.30 to 0.59. Negative genetic correlations were seen between
birth weight and lipids. The genome scan of birth weight mapped to a region near marker D10S537 (LOD = 2.6). The bivariate
genome-wide scan of birth weight and childhood weight or total cholesterol, improved the LOD score to 3.09 and 2.85, respectively.
Chromosome 10q22 harbors genes influencing both birth weight and childhood body size and cardiovascular disease risk in Hispanic
children. 相似文献
953.
Roles of amyloid beta-peptide-associated oxidative stress and brain protein modifications in the pathogenesis of Alzheimer's disease and mild cognitive impairment 总被引:12,自引:2,他引:10
Oxidative stress has been implicated to play a crucial role in the pathogenesis of a number of diseases, including neurodegenerative disorders, cancer, and ischemia, just to name a few. Alzheimer disease (AD) is an age-related neurodegenerative disorder that is recognized as the most common form of dementia. AD is histopathologically characterized by the presence of extracellular amyloid plaques, intracellular neurofibrillary tangles, the presence of oligomers of amyloid beta-peptide (Abeta), and synapse loss. In this review we discuss the role of Abeta in the pathogenesis of AD and also the use of redox proteomics to identify oxidatively modified brain proteins in AD and mild cognitive impairment. In addition, redox proteomics studies in in vivo models of AD centered around human Abeta(1-42) are discussed. 相似文献
954.
Saunders SR Chan AH Kahlon B Kluge HF FitzGerald CM 《American journal of physical anthropology》2007,133(1):735-740
Methods of measuring tissue area from images of longitudinal thin tooth sections have been used to assess sexual dimorphism in the permanent dentition. The aim of this study was to demonstrate the extent of sexual dimorphism within the coronal tissue proportions of permanent mandibular canines and premolars, using area measurements of the enamel and dentine-pulp core. The sample consisted of embedded "half-tooth" sections from 45 individuals, all of known age-at-death and sex, collected from the St. Thomas' Anglican Church historic (1821-1874) cemetery site in Belleville, ON, Canada. The relative dentine-pulp area of the third premolars and canines displayed high levels of sexual dimorphism, as well as statistically significant mean differences between the sexes. The male canines and premolars have significantly more dentine than their female counterparts, as well as relatively more dentine with respect to overall crown size. The female canines and premolars have significantly more enamel relative to overall crown area than those of the males. These results suggest that relative area measures of crown tissues are more predictable measures of sexual dimorphism than absolute measures, and tissue proportions may remain constant despite intrasex variation in overall tooth crown size. 相似文献
955.
Shelley M. Elvington 《生物化学与生物物理学报:生物膜》2007,1768(3):502-508
It was recently shown that the structure of the fluorophore attached to the acyl chain of phosphatidylcholine analogs determines their mechanism of transport across the plasma membrane of yeast cells (Elvington et al., J. Biol Chem. 280:40957, 2005). In order to gain further insight into the physical properties of these fluorescent phosphatidylcholine (PC) analogs, the rate and mechanism of their intervesicular transport was determined. The rate of spontaneous exchange was measured for PC analogs containing either NBD (7-nitrobenz-2-oxa-1,3-diazol-4-yl), Bodipy FL (4,4-difluoro-5,7-dimethyl-4-bora-3a,4a-diaza-s-indacene), Bodipy 530 (4,4-difluoro-5,7-diphenyl-4-bora-3a,4a-diaza-s-indacene), or Bodipy 581 (4,4-difluoro-5-(4-phenyl-1,3-butadienyl)-4-bora-3a,4a-diaza-s-indacene) attached to a five or six carbon acyl chain in the sn-2 position. The rate of transfer between phospholipid vesicles was measured by monitoring the increase in fluorescence as the analogs transferred from donor vesicles containing self-quenching concentrations to unlabeled acceptor vesicles. Kinetic analysis indicated that the transfer of each analog occurred by diffusion through the water phase as opposed to transfer during vesicle collisions. The vesicle-to-monomer dissociation rate constants differed by over four orders of magnitude: NBD-PC (kdis = 0.115 s− 1; t1/2 = 6.03 s); Bodipy FL-PC (kdis = 5.2 × 10− 4; t1/2 = 22.2 min); Bodipy 530-PC (kdis = 1.52 × 10− 5; t1/2 = 12.6 h); and Bodipy 581-PC (kdis = 5.9 × 10− 6; t1/2 = 32.6 h). The large differences in spontaneous rates of transfer through the water measured for these four fluorescent PC analogs reflect their hydrophobicity and may account for their recognition by different mechanisms of transport across the plasma membrane of yeast. 相似文献
956.
957.
Tanya M. Llorens Bronwyn Macdonald Shelley McArthur David J. Coates Margaret Byrne 《Botanical journal of the Linnean Society. Linnean Society of London》2015,177(1):96-111
Effective conservation management should target appropriate conservation units, but evolutionarily and genetically divergent lineages within nominal taxa are often unrecognized. The south‐western Australian biodiversity hotspot may harbour many cryptic taxa, as it contains many plant species with naturally fragmented population distributions. Using microsatellite markers, we tested the hypothesis that disjunct population groups in the rare species Eremophila microtheca and E. rostrata (Scrophulariaceae: Myoporeae) are highly genetically divergent and represent separate evolutionarily significant units (ESUs). Chromosome counts indicated that all individuals assessed were diploid (2n = 36). Genetic differentiation among disjunct population groups was highly significant (P < 0.001) for both E. microtheca (FST = 0.301–0.383; Dest = 0.756–0.774) and E. rostrata (FST = 0.325–0.346; Dest = 0.628–0.660), and was similar to their differentiation from allied species. These results, including high incidences of private alleles, suggest historical divergence among cryptic taxa within E. microtheca and E. rostrata. Population groups in E. rostrata have recently been taxonomically recognized as two subspecies. Our study suggests that E. microtheca should also be reassessed as two taxa or considered as two ESUs, and the southern occurrence should be listed as Critically Endangered. We suggest a precautionary approach for flora in this and similar landscapes, whereby historically wide geographical disjunctions are assumed to indicate separate units for conservation. © 2014 State of Western Australia. Botanical Journal of the Linnean Society © 2014 The Linnean Society of London, 2015, 177 , 96–111. 相似文献
958.
959.
960.
Anthropogenic nitrogen pollution is a critical problem in freshwaters. Although riverbeds are known to attenuate nitrate, it is not known if large woody debris (LWD) can increase this ecosystem service through enhanced hyporheic exchange and streambed residence time. Over a year, we monitored the surface water and pore water chemistry at 200 points along a ~ 50 m reach of a lowland sandy stream with three natural LWD structures. We directly injected 15N-nitrate at 108 locations within the top 1.5 m of the streambed to quantify in situ denitrification, anammox and dissimilatory nitrate reduction to ammonia, which, on average, contributed 85, 10 and 5% of total nitrate reduction, respectively. Total nitrate reducing activity ranged from 0 to 16 µM h?1 and was highest in the top 30 cm of the stream bed. Depth, ambient nitrate and water residence time explained 44% of the observed variation in nitrate reduction; fastest rates were associated with slow flow and shallow depths. In autumn, when the river was in spate, nitrate reduction (in situ and laboratory measures) was enhanced around the LWD compared with non-woody areas, but this was not seen in the spring and summer. Overall, there was no significant effect of LWD on nitrate reduction rates in surrounding streambed sediments, but higher pore water nitrate concentrations and shorter residence times, close to LWD, indicated enhanced delivery of surface water into the streambed under high flow. When hyporheic exchange is too strong, overall nitrate reduction is inhibited due to short flow-paths and associated high oxygen concentrations. 相似文献