Project description:Progressive retinal atrophy (PRA) is a common cause of blindness in many pure and mixed breed dogs (Canis lupus familiaris). The typical onset of PRA begins with gradual night vision loss followed by day vision loss due to the death of rod and cone receptors, respectively. There are currently no mutations or genes reported to be causative or associated with PRA in the Hungarian Puli. In this study, we use an extensive list of 53 known PRA genes to screen for putative causal variants in this breed of dog.
Project description:Viromes of sour and sweet cherry trees in Hungarian germ line collections were surveyed using small RNA HTS as an unbiased method. RNA from leaf samples of different cultivars were purified and used to produce seven pools from which small RNA HTS libraries were prepared. The sequenced reads were analyzed using bioinformatic methods to revel the presence of viruses in the samples. Presence of the viruses were validated using RT-PCR.
Project description:Here we derive candidate gene-environment interaction (GxE) variants from promoter-enhancer interacting regions that respond to dietary fatty acid challenge through altered chromatin accessibility in human primary adipocytes, and demonstrate that molecular genomics data produced in physiologically relevant contexts can illuminate new functional GxE mechanisms in humans and identify variants for GxE testing in large biobanks.
Project description:Hungarian Tokaji "aszu" and "furmint" wines were analyzed by LC-MS/MS in order to identify the molecular composition of the wines and to found compounds with potential health benefits.
Project description:The testicular tissue of Hungarian White Goose was selected from three stages of the laying cycle (initial, peak and end stages), and the DIA strategy was used for proteomic sequencing.
Project description:BACKGROUND: Peutz-Jeghers syndrome (PJS) is a rare autosomal dominantly inherited disease characterized by gastrointestinal hamartomatous polyposis and mucocutaneous pigmentation. The genetic predisposition for PJS has been shown to be associated with germline mutations in the STK11/LKB1 tumor suppressor gene. The aim of the present study was to characterize Hungarian PJS patients with respect to germline mutation in STK11/LKB1 and their association to disease phenotype. METHODS: Mutation screening of 21 patients from 13 PJS families were performed using direct DNA sequencing and multiplex ligation-dependent probe amplification (MLPA). Comparative semi-quantitative sequencing was applied to investigate the mRNA-level effects of nonsense and splice-affecting mutations. RESULTS: Thirteen different pathogenic mutations in STK11, including a high frequency of large genomic deletions (38%, 5/13), were identified in the 13 unrelated families studied. One of these deletions also affects two neighboring genes (SBNO2 and GPX4), located upstream of STK11, with a possible modifier effect. The majority of the point mutations (88%, 7/8) can be considered novel. Quantification of the STK11 transcript at the mRNA-level revealed that the expression of alleles carrying a nonsense or frameshift mutation was reduced to 30-70% of that of the wild type allele. Mutations affecting splice-sites around exon 2 displayed an mRNA processing pattern indicative of co-regulated splicing of exons 2 and 3. CONCLUSIONS: A combination of sensitive techniques may assure a high (100%) STK11 mutation detection frequency in PJS families. Characterization of mutations at mRNA level may give a deeper insight into the molecular consequences of the pathogenic mutations than predictions made solely at the genomic level.
Project description:Understanding the fitness consequences of correlated shifts in ecological parameters is a central challenge in contemporary biology. We studied two genotypes of the waterflea, Daphnia pulex that exhibit striking genotype x environment (GxE) interaction in response to shifts in phosphorus (P) supply, which also alters dietary carbon (C) content. Genotype1 (G1) had higher fitness under a LoC:HiP (C:P~100) diet, while Genotype2 (G2) performed better in C:P~800 diet. Dual 14C/33P radiotracer assays clearly show that this GxE interaction is driven by physiological differences in the processing of C and P. G1 was more efficient in C processing, while G2 was more efficient in P use. Microarrays revealed that the genotypes differed in the expression of 6057 genes. Most of these genes were involved in pathways already known to be sensitive to stoichiometric imbalances. Our study provides the first step to couple functional genomics with ecologically explicit frameworks to understand the complexity of processes underlying GxE interactions.