Sequence analysis of 5' regulatory regions of the Machado-Joseph Disease gene (ATXN3)

Machado–Joseph disease (MJD) is a late-onset autosomal dominant neurodegenerative disorder, which is caused by a coding (CAG)n expansion in the ATXN3 gene (14q32.1). The number of CAG repeats in the expanded alleles accounts only for 50 to 75 % of onset variance, the remaining variation being dependent on other factors. Differential allelic expression of ATXN3 could contribute to the explanation of different ages at onset in patients displaying similar CAG repeat sizes. Variation in 5′ regulatory regions of the ATXN3 gene may have the potential to influence expression levels and, ultimately, modulate the MJD phenotype. The main goal of this work was to analyze the extent of sequence variation upstream of the ATXN3 start codon. A fragment containing the core promoter and the 5′ untranslated region (UTR) was sequenced and analyzed in 186 patients and 59 controls (490 chromosomes). In the core promoter, no polymorphisms were observed. In the 5′ UTR, only one SNP (rs3814834) was found, but no improvements on the explanation of onset variance were observed, when adding its allelic state in a linear model. Accordingly, in silico analysis predicted that this SNP lays in a nonconserved position for CMYB binding. Therefore, no functional effect could be predicted for this variant.Institute of Biotechnology and Biomedicine of the Azores - “High Prevalence Diseases in the Azores Islands” M2.1.2/I/026/2008,Fundação para a Ciência e a Tecnologia (FCT) - “Transcriptional variation of the ATXN3 gene as modulator of the clinical heterogeneity in Machado–Joseph disease (MJD)Secretaria Regional da Ciência, Tecnologia e Equipamentos - M3.1.3/F/004/2009CNP

Vision, challenges and opportunities for a Plant Cell Atlas

With growing populations and pressing environmental problems, future economies will be increasingly plant-based. Now is the time to reimagine plant science as a critical component of fundamental science, agriculture, environmental stewardship, energy, technology and healthcare. This effort requires a conceptual and technological framework to identify and map all cell types, and to comprehensively annotate the localization and organization of molecules at cellular and tissue levels. This framework, called the Plant Cell Atlas (PCA), will be critical for understanding and engineering plant development, physiology and environmental responses. A workshop was convened to discuss the purpose and utility of such an initiative, resulting in a roadmap that acknowledges the current knowledge gaps and technical challenges, and underscores how the PCA initiative can help to overcome them.</jats:p

Effect of the combined action of Quercus cortex extract and probiotic substances on the immunity and productivity of broiler chickens

Aim: This study was designed to investigate the synergistic effect of the combined action of probiotic bacterial strains (Bifidobacterium adolescentis and Lactobacillus acidophilus) and Quercus cortex extract as biologically active substances in the feed on the immunity and productivity of Gallus gallus domesticus. Materials and Methods: For the experiment, 120 7-day-old broiler chickens were selected (4 groups, n=30, 3 replicates with 10 birds in each group). The groups were as follows: The reference group - basic diet (BD); experimental Group I - BD + Q. cortex extract (Q. cortex), 2.5 ml/kg of body weight; experimental Group II - BD + probiotic preparation based on B. adolescentis, 80.0 million colony-forming units (CFU), and L. acidophilus, 1.0 million CFU (dosage in accordance with the recommendations of the manufacturer); and experimental Group III - BD + probiotic + extract of Q. cortex. The following methods of study were used: Chemiluminescence and biochemical and hematological analysis. Results: The results of the experiment showed a slight decrease in the level of leukocytes in Groups II (p≤0.05) and III, and of hemoglobin in Group III (p≤0.05), compared to the reference group. The level of alanine aminotransferase and aspartate aminotransferase in Group II was higher than both the reference group (p≤0.05) and the other groups. Introduction of Q. cortex extract into the diet increased the level of triglycerides (p≤0.05) and urea in the blood serum. The combined use of probiotic preparations and the extract resulted in an increase in the level of iron in the blood serum by 78.1% (p≤0.05) in Group III. An increase in indicators of the antioxidant system (catalase increased in Group I by 27.2% (p≤0.05) and by 3.0-12.7% in other groups; superoxide dismutase increased by 3.0-13.2%) and nonspecific immunity (β-lysine increased by 8.8-16.0%) was noted. Introduction of the extract and probiotic preparation into the diet contributed to increasing the live weight of chickens at the age of 15 days by 5.9 and 7.4%, respectively (p≤0.05). In experimental Group II, this trend continued, and by the end of the period, the weight of animals exceeded that of their peers in other groups by 0.7-7.0%. Given the high preservation rate of poultry in the II and III Groups, and the low feed consumption per 1 kg of live weight gain (by 3.1-6.7%), the efficiency of growth was higher than in the reference group. Conclusion: Thus, the combined use of probiotic strains of bacteria and Q. cortex extract helped to increase the antioxidant activity of the organism and antimicrobial components of blood plasma compared with broiler chickens with similar growth rates but without the supplementation of this combination