排序方式: 共有52条查询结果,搜索用时 15 毫秒
31.
DeStefano AL Latourelle J Lew MF Suchowersky O Klein C Golbe LI Mark MH Growdon JH Wooten GF Watts R Guttman M Racette BA Perlmutter JS Marlor L Shill HA Singer C Goldwurm S Pezzoli G Saint-Hilaire MH Hendricks AE Gower A Williamson S Nagle MW Wilk JB Massood T Huskey KW Baker KB Itin I Litvan I Nicholson G Corbett A Nance M Drasby E Isaacson S Burn DJ Chinnery PF Pramstaller PP Al-Hinti J Moller AT Ostergaard K Sherman SJ Roxburgh R Snow B Slevin JT Cambi F Gusella JF Myers RH 《Human genetics》2008,124(1):95-99
Genetic variants in embryonic lethal, abnormal vision, Drosophila-like 4 (ELAVL4) have been reported to be associated with onset age of Parkinson disease (PD) or risk for PD affection in Caucasian populations.
In the current study we genotyped three single nucleotide polymorphisms in ELAVL4 in a Caucasian study sample consisting of 712 PD patients and 312 unrelated controls from the GenePD study. The minor allele of rs967582 was associated with increased risk of PD (odds ratio = 1.46, nominal P value = 0.011) in the GenePD population. The minor allele of rs967582 was also the risk allele for PD affection or earlier onset age in the previously
studied populations. This replication of association with rs967582 in a third cohort further implicates ELAVL4 as a PD susceptibility gene. 相似文献
32.
BACKGROUND: Benzo(a)pyrene (BaP), anthracene (ANTH) and chrysene (CHRY) are polynuclear aromatic hydrocarbons (PAHs) implicated in renal toxicity and carcinogenesis. These PAHs elicit cell type-specific effects that help predict toxicity outcomes in vitro and in vivo. While BaP and ANTH selectively injure glomerular mesangial cells, and CHRY targets cortico-tubular epithelial cells, binary or ternary mixtures of these hydrocarbons markedly reduce the overall cytotoxic potential of individual hydrocarbons. METHODS: To study the biochemical basis of these antagonistic interactions, renal glomerular mesangial cells were challenged with BaP alone (0.03 - 30 microM) or in the presence of ANTH (3 microM) or CHRY (3 microM) for 24 hr. Total RNA and protein will be harvested for Northern analysis and measurements of aryl hydrocarbon hydroxylase (AHH) and ethoxyresorufin-O-deethylase (EROD) activity, respectively, to evaluate cytochrome P450 mRNA and protein inducibility. Cellular hydrocarbon uptake and metabolic profiles of PAHs were analyzed by high performance liquid chromatography (HPLC). RESULTS: Combined hydrocarbon treatments did not influence the cellular uptake of individual hydrocarbons. ANTH or CHRY strongly repressed BaP-inducible cytochrome P450 mRNA and protein expression, and markedly inhibited oxidative BaP metabolism. CONCLUSION: These findings indicate that antagonistic interactions among nephrocarcinogenic PAHs involve altered expression of cytochrome P450s that modulate bioactivation profiles and nephrotoxic/ nephrocarcinogenic potential. 相似文献
33.
Sixteen microsatellite loci are described for the two‐spotted spider mite Tetranychus urticae, which is an agricultural pest. The microsatellite loci were obtained through the construction of an enriched library; these loci exhibited polymorphisms (2–5 alleles per locus) and high levels of observed (0.033–0.667, average 0.415) and expected (0.033–0.602, average 0.336) heterozygosities. The isolated microsatellite markers are expected to be useful for the construction of a linkage map of this species. 相似文献
34.
35.
36.
MH Bowie J Klimaszewski CJ Vink S Hodge SD Wratten 《New Zealand journal of zoology.》2013,40(4):268-284
Pitfall traps were used to monitor predatory arthropod numbers along two types of field boundary, a post and wire fence line and a Cupressus macrocarpa hedge, along the same paddock margin in Canterbury, New Zealand, over 24 months. The seven most abundant predator groups recorded were: Araneae > Phalangiidae > Staphylinidae > Coccinellidae > Chilopoda > Hemerobiidae > Carabidae. Araneae, Phalangiidae, Staphylinidae, Chilopoda and Hemerobiidae were found in larger numbers at the wire fence than at the hedge site, whereas the numbers of Carabidae and Coccinellidae adults exhibited no field margin preference. However, more species of Araneae and Staphylinidae were caught at the hedge site, whereas species richness of carabid beetles was greatest at the wire fence. Principal component analysis clearly separated the samples collected from the two habitats based on the assemblages of Araneae, Staphylinidae and Carabidae, and certain species in each of these taxonomic groups appeared to be particularly associated with one boundary type or the other. All the main taxonomic groups exhibited clear seasonal patterns, with distinct peaks in abundance occurring at certain times of the year. The results of the study reinforce the idea that management of field boundaries can be used to manipulate the type and abundance of particular groups of predatory arthropods, and that seasonal patterns should be taken into account in schemes of integrated pest management so that any adverse effects of biocide application on these beneficial species may be minimised. 相似文献
37.
Lee JM Gillis T Mysore JS Ramos EM Myers RH Hayden MR Morrison PJ Nance M Ross CA Margolis RL Squitieri F Griguoli A Di Donato S Gomez-Tortosa E Ayuso C Suchowersky O Trent RJ McCusker E Novelletto A Frontali M Jones R Ashizawa T Frank S Saint-Hilaire MH Hersch SM Rosas HD Lucente D Harrison MB Zanko A Abramson RK Marder K Sequeiros J MacDonald ME Gusella JF 《American journal of human genetics》2012,90(3):434-444
Age at the onset of motor symptoms in Huntington disease (HD) is determined largely by the length of a CAG repeat expansion in HTT but is also influenced by other genetic factors. We tested whether common genetic variation near the mutation site is associated with differences in the distribution of expanded CAG alleles or age at the onset of motor symptoms. To define disease-associated single-nucleotide polymorphisms (SNPs), we compared 4p16.3 SNPs in HD subjects with population controls in a case:control strategy, which revealed that the strongest signals occurred at a great distance from the HD mutation as a result of "synthetic association" with SNP alleles that are of low frequency in population controls. Detailed analysis delineated a prominent ancestral haplotype that accounted for ~50% of HD chromosomes and extended to at least 938 kb on about half of these. Together, the seven most abundant haplotypes accounted for ~83% of HD chromosomes. Neither the extended shared haplotype nor the individual local HTT haplotypes were associated with altered CAG-repeat length distribution or residual age at the onset of motor symptoms, arguing against modification of these disease features by common cis-regulatory elements. Similarly, the 11 most frequent control haplotypes showed no trans-modifier effect on age at the onset of motor symptoms. Our results argue against common local regulatory variation as a factor influencing HD pathogenesis, suggesting that genetic modifiers be sought elsewhere in the genome. They also indicate that genome-wide association analysis with a small number of cases can be effective for regional localization of genetic defects, even when a founder effect accounts for only a fraction of the disorder. 相似文献
38.
A genome scan for modifiers of age at onset in Huntington disease: The HD MAPS study 总被引:5,自引:0,他引:5
下载免费PDF全文
![点击此处可从《American journal of human genetics》网站下载免费的PDF全文](/ch/ext_images/free.gif)
Li JL Hayden MR Almqvist EW Brinkman RR Durr A Dodé C Morrison PJ Suchowersky O Ross CA Margolis RL Rosenblatt A Gómez-Tortosa E Cabrero DM Novelletto A Frontali M Nance M Trent RJ McCusker E Jones R Paulsen JS Harrison M Zanko A Abramson RK Russ AL Knowlton B Djoussé L Mysore JS Tariot S Gusella MF Wheeler VC Atwood LD Cupples LA Saint-Hilaire M Cha JH Hersch SM Koroshetz WJ Gusella JF MacDonald ME Myers RH 《American journal of human genetics》2003,73(3):682-687
Huntington disease (HD) is caused by the expansion of a CAG repeat within the coding region of a novel gene on 4p16.3. Although the variation in age at onset is partly explained by the size of the expanded repeat, the unexplained variation in age at onset is strongly heritable (h2=0.56), which suggests that other genes modify the age at onset of HD. To identify these modifier loci, we performed a 10-cM density genomewide scan in 629 affected sibling pairs (295 pedigrees and 695 individuals), using ages at onset adjusted for the expanded and normal CAG repeat sizes. Because all those studied were HD affected, estimates of allele sharing identical by descent at and around the HD locus were adjusted by a positionally weighted method to correct for the increased allele sharing at 4p. Suggestive evidence for linkage was found at 4p16 (LOD=1.93), 6p21–23 (LOD=2.29), and 6q24–26 (LOD=2.28), which may be useful for investigation of genes that modify age at onset of HD. 相似文献
39.
40.
Patterns of chloroplast DNA (cpDNA) and mitochondrial DNA (mtDNA) variation
were studied in 378 populations of oak trees sampled throughout the
southern half of France. Six cpDNA haplotypes detected in a previous
European survey and three new cpDNA haplotypes were found in this region.
Two mitochondrial polymorphisms detected earlier by restriction analysis of
PCR-amplified fragments alone, or in combination with single-strand
conformation polymorphism (SSCP), were compared with the cpDNA data.
Sequencing revealed the nature of the two mitochondrial mutations: a
single-base substitution and a 4-bp inversion associated with a 22-bp
hairpin secondary structure. The single-base substitution was then analyzed
by allele-specific amplification. Results for the two cytoplasmic genomes
were combined, which allowed the identification of 12 cpDNA-mtDNA
haplotypes. The 4-bp mtDNA inversion has appeared independently in
different cpDNA lineages. Given the peculiar nature of this mtDNA mutation,
we suggest that intramolecular recombination leading to repeated inversions
of the 4-bp sequence (rather than paternal leakage of one of the two
genomes) is responsible for this pattern. Furthermore, the geographic
locations of the unusual cpDNA-mtDNA associations (due to the inversion)
usually do not match the zones of contact between divergent haplotypes. In
addition, in southern France, the groupings of populations based on the
mtDNA substitution were strictly congruent with those based on cpDNA.
Because many populations that are polymorphic for both cpDNA and mtDNA have
remained in contact since postglacial recolonization in this area without
producing any new combination of cytoplasms involving the mitochondrial
substitution, we conclude that paternal leakage is not a significant factor
at this timescale. Such results confirm and expand our earlier conclusions
based on controlled crosses.
相似文献