28 research outputs found

    Congenital syndactyly in cattle: four novel mutations in the low density lipoprotein receptor-related protein 4 gene (LRP4)

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    BACKGROUND: Isolated syndactyly in cattle, also known as mulefoot, is inherited as an autosomal recessive trait with variable penetrance in different cattle breeds. Recently, two independent mutations in the bovine LRP4 gene have been reported as the primary cause of syndactyly in the Holstein and Angus cattle breeds. RESULTS: We confirmed the previously described LRP4 exon 33 two nucleotide substitution in most of the affected Holstein calves and revealed additional evidence for allelic heterogeneity by the identification of four new LRP4 non-synonymous point mutations co-segregating in Holstein, German Simmental and Simmental-Charolais families. CONCLUSION: We confirmed a significant role of LRP4 mutations in the pathogenesis of congenital syndactyly in cattle. The newly detected missense mutations in the LRP4 gene represent independent mutations affecting different conserved protein domains. However, the four newly described LRP4 mutations do still not explain all analyzed cases of syndactyly

    A One Base Pair Deletion in the Canine ATP13A2 Gene Causes Exon Skipping and Late-Onset Neuronal Ceroid Lipofuscinosis in the Tibetan Terrier

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    Neuronal ceroid lipofuscinosis (NCL) is a progressive neurodegenerative disease characterized by brain and retinal atrophy and the intracellular accumulation of autofluorescent lysosomal storage bodies resembling lipofuscin in neurons and other cells. Tibetan terriers show a late-onset lethal form of NCL manifesting first visible signs at 5–7 years of age. Genome-wide association analyses for 12 Tibetan-terrier-NCL-cases and 7 Tibetan-terrier controls using the 127K canine Affymetrix SNP chip and mixed model analysis mapped NCL to dog chromosome (CFA) 2 at 83.71–84.72 Mb. Multipoint linkage and association analyses in 376 Tibetan terriers confirmed this genomic region on CFA2. A mutation analysis for 14 positional candidate genes in two NCL-cases and one control revealed a strongly associated single nucleotide polymorphism (SNP) in the MAPK PM20/PM21 gene and a perfectly with NCL associated single base pair deletion (c.1620delG) within exon 16 of the ATP13A2 gene. The c.1620delG mutation in ATP13A2 causes skipping of exon 16 presumably due to a broken exonic splicing enhancer motif. As a result of this mutation, ATP13A2 lacks 69 amino acids. All known 24 NCL cases were homozygous for this deletion and all obligate 35 NCL-carriers were heterozygous. In a sample of 144 dogs from eleven other breeds, the c.1620delG mutation could not be found. Knowledge of the causative mutation for late-onset NCL in Tibetan terrier allows genetic testing of these dogs to avoid matings of carrier animals. ATP13A2 mutations have been described in familial Parkinson syndrome (PARK9). Tibetan terriers with these mutations provide a valuable model for a PARK9-linked disease and possibly for manganese toxicity in synucleinopathies

    Estimates of CO2 from fires in the United States: implications for carbon management

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    <p>Abstract</p> <p>Background</p> <p>Fires emit significant amounts of CO<sub>2 </sub>to the atmosphere. These emissions, however, are highly variable in both space and time. Additionally, CO<sub>2 </sub>emissions estimates from fires are very uncertain. The combination of high spatial and temporal variability and substantial uncertainty associated with fire CO<sub>2 </sub>emissions can be problematic to efforts to develop remote sensing, monitoring, and inverse modeling techniques to quantify carbon fluxes at the continental scale. Policy and carbon management decisions based on atmospheric sampling/modeling techniques must account for the impact of fire CO<sub>2 </sub>emissions; a task that may prove very difficult for the foreseeable future. This paper addresses the variability of CO<sub>2 </sub>emissions from fires across the US, how these emissions compare to anthropogenic emissions of CO<sub>2 </sub>and Net Primary Productivity, and the potential implications for monitoring programs and policy development.</p> <p>Results</p> <p>Average annual CO<sub>2 </sub>emissions from fires in the lower 48 (LOWER48) states from 2002–2006 are estimated to be 213 (± 50 std. dev.) Tg CO<sub>2 </sub>yr<sup>-1 </sup>and 80 (± 89 std. dev.) Tg CO<sub>2 </sub>yr<sup>-1 </sup>in Alaska. These estimates have significant interannual and spatial variability. Needleleaf forests in the Southeastern US and the Western US are the dominant source regions for US fire CO<sub>2 </sub>emissions. Very high emission years typically coincide with droughts, and climatic variability is a major driver of the high interannual and spatial variation in fire emissions. The amount of CO<sub>2 </sub>emitted from fires in the US is equivalent to 4–6% of anthropogenic emissions at the continental scale and, at the state-level, fire emissions of CO<sub>2 </sub>can, in some cases, exceed annual emissions of CO<sub>2 </sub>from fossil fuel usage.</p> <p>Conclusion</p> <p>The CO<sub>2 </sub>released from fires, overall, is a small fraction of the estimated average annual Net Primary Productivity and, unlike fossil fuel CO<sub>2 </sub>emissions, the pulsed emissions of CO<sub>2 </sub>during fires are partially counterbalanced by uptake of CO<sub>2 </sub>by regrowing vegetation in the decades following fire. Changes in fire severity and frequency can, however, lead to net changes in atmospheric CO<sub>2 </sub>and the short-term impacts of fire emissions on monitoring, modeling, and carbon management policy are substantial.</p

    Calibration of a Large Fuel Burnout Model

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    An increase in stimulus arousal has differential effects on the processing speed of pleasant and unpleasant stimuli

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    The arousal value of a stimulus influences its salience, whereby higher arousal should lead to faster processing. However, in previous research, participants consistently made faster valence judgments for low arousal, pleasant stimuli than for high arousal, pleasant stimuli. The speed of valence and arousal judgments for pictures and words were investigated in three experiments. Valence judgments were faster for low arousal than for high arousal pleasant pictures and for high arousal than for low arousal unpleasant pictures and words. Moreover, arousal judgments were faster for low arousal than high arousal pleasant and for high arousal than low arousal unpleasant pictures and words. The current research confirms that the impact of valence and arousal on processing speed does not reflect on the labels (valence versus arousal) used when recording speeded judgments. Similarly to valence, stimulus arousal interacts differentially with the evaluation of pleasant and unpleasant stimuli producing a processing advantage for high arousal, unpleasant stimuli but not high arousal, pleasant stimuli
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