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81.
Abstract: A systematic account of highly diverse cyrtocrinid faunules from Upper Jurassic strata of ?tramberk type (Oxfordian–Tithonian) in southern Poland (Polish Carpathians) is presented. Fourteen taxa (Phyllocrinus malbosianus, Ph. stellaris, Ph. sp., Psalidocrinus armatus, Sclerocrinus compressus, Spolonicus sp. nov., Hemicrinus aff. kabanovi, Ancepsicrinus parvus gen. et sp. nov., Tetracrinus baumilleri sp. nov., Eugeniacrinites alexandrowiczi, E. cf. moravicus, E. sp., Eudesicrinus gluchowskii sp. nov. and Hemibrachiocrinus tithonicus sp. nov. are described and illustrated. Representatives of the genus Eudesicrinus, previously recorded only from the Lower Jurassic, are here shown to extend into the uppermost Jurassic. Other cyrtocrinids considered are common in Jurassic/Cretaceous strata across Europe. In the present faunules, isocrinid (Isocrinida), comatulid (Comatulida) and roveacrinid (Roveacrinida sensu Rasmussen, inclusive of Saccocoma) crinoids are associated.  相似文献   
82.
The aim of this study was to assess the relative influence of the linear energy transfer (LET) of alpha particles on the complexity of chromosome aberrations in the absence of significant other differences in track structure. To do this, we irradiated human hemopoietic stem cells (CD34+) with alpha particles of various incident LETs (110-152 keV/microm, with mean LETs through the cell of 119-182 keV/microm) at an equi-fluence of approximately one particle/cell and assayed for chromosome aberrations by mFISH. Based on a single harvest time to collect early-division mitotic cells, complex aberrations were observed at comparable frequencies irrespective of incident LET; however, when expressed as a proportion of the total exchanges detected, their occurrence was seen to increase with increasing LET. Cycle analysis to predict theoretical DNA double-strand break rejoining cycles was also carried out on all complex chromosome aberrations detected. By doing this we found that the majority of complex aberrations are formed in single non-reducible cycles that involve just two or three different chromosomes and three or four different breaks. Each non-reducible cycle is suggested to represent "an area" of finite size within the nucleus where double-strand break repair occurs. We suggest that the local density of damage induced and the proximity of independent repair areas within the interphase nucleus determine the complexity of aberrations resolved in metaphase. Overall, the most likely outcome of a single nuclear traversal of a single alpha particle in CD34+ cells is a single chromosome aberration per damaged cell. As the incident LET of the alpha particle increases, the likelihood of this aberration being classed as complex is greater.  相似文献   
83.
Renin-angiotensin (RAS) system activation is associated with an increased risk of sudden death. Previously, we used cardiac-restricted angiotensin-converting enzyme (ACE) overexpression to construct a mouse model of RAS activation. These ACE 8/8 mice die prematurely and abruptly. Here, we have investigated cardiac electrophysiological abnormalities that may contribute to early mortality in this model. In ACE 8/8 mice, surface ECG voltages are reduced. Intracardiac electrograms showed atrial and ventricular potential amplitudes of 11% and 24% compared with matched wild-type (WT) controls. The atrioventricular (AV), atrio-Hisian (AH), and Hisian-ventricular (HV) intervals were prolonged 2.8-, 2.6-, and 3.9-fold, respectively, in ACE 8/8 vs. WT mice. Various degrees of AV nodal block were present only in ACE 8/8 mice. Intracardiac electrophysiology studies demonstrated that WT and heterozygote (HZ) mice were noninducible, whereas 83% of ACE 8/8 mice demonstrated ventricular tachycardia with burst pacing. Atrial connexin 40 (Cx40) and connexin 43 (Cx43) protein levels, ventricular Cx43 protein level, atrial and ventricular Cx40 mRNA abundances, ventricular Cx43 mRNA abundance, and atrial and ventricular cardiac Na(+) channel (Scn5a) mRNA abundances were reduced in ACE 8/8 compared with WT mice. ACE 8/8 mice demonstrated ventricular Cx43 dephosphorylation. Atrial and ventricular L-type Ca(2+) channel, Kv4.2 K(+) channel alpha-subunit, and Cx45 mRNA abundances and the peak ventricular Na(+) current did not differ between the groups. In isolated heart preparations, a connexin blocker, 1-heptanol (0.5 mM), produced an electrophysiological phenotype similar to that seen in ACE 8/8 mice. Therefore, cardiac-specific ACE overexpression resulted in changes in connexins consistent with the phenotype of low-voltage electrical activity, conduction defects, and induced ventricular arrhythmia. These results may help explain the increased risk of arrhythmia in states of RAS activation such as heart failure.  相似文献   
84.
Ochlerotatus triseriatus, the eastern treehole mosquito, reaches its northernmost range limit in the extreme southeast of Canada. As a known vector of West Nile and La Crosse encephalitis viruses and a potential vector of eastern equine encephalitis, its population biology is of interest. In southern Ontario, high larval densities occur in urban woodlots within sugar maple and American beech treehole communities comprising rotifers, nematode worms, mites, other dipterans, and scirtid beetles. Treehole water was characterized by low dissolved oxygen levels and seasonally variable pH and temperature, with the latter being most influential on local populations. Densities were significantly higher (up to 503 larvae 100 ml(-1)) in tree holes close to the forest floor (<1 m) and in experimental tree holes seeded with autumn-shed maple leaves as opposed to leaves of black oak and beech. In this locality, weekly sampling showed Oc. triseriatus to be multivoltine, with mass egg hatching beginning under coldwater (<10 degrees C) conditions in March/April, and thereafter producing three successful generations with a possible, less successful fourth in late summer. Some 1st instar larvae were present in water as cold as 0.7 degree C. Compared with larval psychodids living in the same tree hole, population losses of Oc. triseriatus due to washout during major rainfall events were negligible despite high flowthrough of water derived from stemflow.  相似文献   
85.

Background

Neuroserpin, primarily localized to CNS neurons, inhibits the adverse effects of tissue-type plasminogen activator (tPA) on the neurovascular unit and has neuroprotective effects in animal models of ischemic stroke. We sought to evaluate the association of neuroserpin polymorphisms with risk for ischemic stroke among young women.

Methods

A population-based case-control study of stroke among women aged 15–49 identified 224 cases of first ischemic stroke (47.3% African-American) and 211 age-matched control subjects (43.1% African-American). Neuroserpin single nucleotide polymorphisms (SNPs) chosen through HapMap were genotyped in the study population and assessed for association with stroke.

Results

Of the five SNPs analyzed, the A allele (frequency; Caucasian = 0.56, African-American = 0.42) of SNP rs6797312 located in intron 1 was associated with stroke in an age-adjusted dominant model (AA and AT vs. TT) among Caucasians (OR = 2.05, p = 0.023) but not African-Americans (OR = 0.71, p = 0.387). Models adjusting for other risk factors strengthened the association. Race-specific haplotype analyses, inclusive of SNP rs6797312, again demonstrated significant associations with stroke among Caucasians only.

Conclusion

This study provides the first evidence that neuroserpin is associated with early-onset ischemic stroke among Caucasian women.  相似文献   
86.
87.
Clinically relevant features of monogenic diseases, including severity of symptoms and age of onset, can vary widely in response to environmental differences as well as to the presence of genetic modifiers affecting the trait’s penetrance and expressivity. While a better understanding of modifier loci could lead to treatments for Mendelian diseases, the rarity of individuals harboring both a disease-causing allele and a modifying genotype hinders their study in human populations. We examined the genetic architecture of monogenic trait modifiers using a well-characterized yeast model of the human Mendelian disease classic galactosemia. Yeast strains with loss-of-function mutations in the yeast ortholog (GAL7) of the human disease gene (GALT) fail to grow in the presence of even small amounts of galactose due to accumulation of the same toxic intermediates that poison human cells. To isolate and individually genotype large numbers of the very rare (∼0.1%) galactose-tolerant recombinant progeny from a cross between two gal7Δ parents, we developed a new method, called “FACS-QTL.” FACS-QTL improves upon the currently used approaches of bulk segregant analysis and extreme QTL mapping by requiring less genome engineering and strain manipulation as well as maintaining individual genotype information. Our results identified multiple distinct solutions by which the monogenic trait could be suppressed, including genetic and nongenetic mechanisms as well as frequent aneuploidy. Taken together, our results imply that the modifiers of monogenic traits are likely to be genetically complex and heterogeneous.  相似文献   
88.
89.
A single test, including one pseudo-backcross (Pinus elliottii x Pinus taeda) x P. elliottii and open-pollinated families of the pure species progenitors, was established in North Central Florida in December 2007 to study the transfer of the fast-growing characteristics from a P. taeda L. (loblolly pine) parent into the P. elliottii Engelm. (slash pine) background. Several traits were measured in the first growing season: height growth, phenology, tip moth incidence, stem traits, crown architectural and needle traits. Heterosis was evaluated for each trait using analyses of variance by fitting a linear mixed model. All traits were significantly (p value < 0.05) different among families while the significance for heterosis varied by trait. Positive heterosis was found for average rate of shoot elongation (ASRE), total growth (TG), total height and number of needles per fascicle while the opposite was true for base diameter, top diameter, fascicle length, fascicle diameter, crown projected area and phenological traits (cessation, duration and day to reach 50% of the height). Average performance (i.e., no heterosis) was found for initiation of growth, number of branches, number of nodes, tip moth incidence, sheath length and specific leaf area. The analyses indicated that introgression of loblolly pine alleles into slash pine was effective and novel trait combinations were achieved. The pseudo-backcross had larger variation in early height growth than the slash pine families and was taller than all open-pollinated families at the end of the first season. Tip moth incidence was much lower than the loblolly pine family.  相似文献   
90.
Unexpectedly high levels of field susceptibility to the fusiform rust fungus observed for slashXloblolly hybrid families in the Cooperative Forest Genetics Research Program Pine Hybrid Trials led to several hypotheses concerning causation of the observed susceptibility. One of these hypotheses involved the failure of major resistance genes to appropriately function in this particular hybrid combination. This current work, involving the loblolly pine resistance gene Fr1 and a fusiform rust inoculum avirulent against Fr1 resistance in a greenhouse trial, delineates the investigation of major gene resistance for a particular slashXloblolly hybrid family. In this trial, the Fr1 resistance allele, derived from the heterozygous (Fr1/fr1) loblolly male parent and transferred to hybrid offspring that should have been segregating 1:1 for resistance, was fully penetrant. Likewise, in the pure-species loblolly control, the Fr1 resistance allele was again fully penetrant, and the performances of our hybrid family and the loblolly control family (both of which segregated for Fr1 resistance) were comparable. These results by inductive reasoning refute the hypothesis that major resistance genes are not appropriately functional in a slashXloblolly hybrid background.  相似文献   
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