Type 1 diabetes mellitus (DM 1A) is an autoimmune disease belonging to the most frequent chronic diseases of the childhood and young adults. DM 1A results from immune-mediated destruction of the insulin-producing beta cells of the pancreas. It is a genetically determined disease and many genes or genetic regions were found to be associated with its induction. In addition to the insulin-dependent diabetes mellitus 1 (IDDM1) gene, which marks the HLA region, and IDDM2 which marks the insulin gene, significant associations of DM 1A to other IDMM genes or genetic regions we reported. We shortly review recent achievements in the field, and the state of current knowledge., D. Kantárová, M. Buc., and Obsahuje bibliografii a bibliografické odkazy
A common variant of the LHb subunit has a varying prevalence in various ethnic groups. The consequences of the presence of mutated luteinizing hormone (LH) concern borderline alterations in pituitary/gonadal function that could be mediated by an altered action of variant LH on gonadal steroidogenesis. A comparison of plasma concentrations of gonadal steroid sex hormones was completed in women heterozygous for variant LH and in women with the wild type of LH in three different age ranges. The sample was a randomly selected group of 177 normal women 16 to 72 years old. Variant LH was determined by immunofluorimetric methods using two combinations of monoclonal antibodies. The ratios of LH measured by the two assays indicated whether the subject was wild type homozygote, heterozygote or homozygote for the variant LHb allele. The carriers of the variant LH allele in the group of postmenopausal women showed higher serum testosterone levels than those with the wild type LH. This is in agreement with the clinical observations made previously showing a slightly higher androgenic action in the population with variant LH. No differences were detected in serum LH, FSH, epitestosterone and sex hormone binding globulin (SHBG)., M. Hill, I.T. Huhtaniemi, R. Hampl, L. Stárka., and Obsahuje bibliografii
Increased levels of plasma cysteine are associated with obesity and metabolic disturbances. Our recent genetic analyses in spontaneously hypertensive rats (SHR) revealed a mutated Folr1 (folate receptor 1) as the quantitative trait gene associated with diminished renal Folr1 expression, lower plasma folate levels, hypercysteinemia, hyperhomocysteinemia and metabolic disturbances. To further analyse the effects of the Folr1 gene expression on folate metabolism, we used mass spectrometry to quantify folate profiles in the plasma and liver of an SHR-1 congenic strain, with wild type Folr1 allele on the SHR genetic background, and compared them with the SHR strain. In the plasma, concentration of 5-methyltetrahydrofolate (5mTHF) was significantly higher in SHR-1 congenic rats compared to SHR (60±6 vs. 42±2 nmol/l, P<0.01) and 5mTHF monoglutamate was the predominant form in both strains (>99 % of total folate). In the liver, SHR-1 congenic rats showed a significantly increased level of 5mTHF and decreased concentrations of dihydrofolate (DHF), tetrahydrofolate (THF) and formyl-THF when compared to the SHR strain. We also analysed the extent of folate glutamylation in the liver. Compared with the SHR strain, congenic wild-type Folr1 rats had significantly higher levels of 5mTHF monoglutamate. On the other hand, 5mTHF penta- and hexaglutamates were significantly higher in SHR when compared to SHR-1 rats. This inverse relationship of rat hepatic folate polyglutamate chain length and folate sufficiency was also true for other folate species. These results strongly indicate that the whole body homeostasis of folates is substantially impaired in SHR rats compared to the SHR-1 congenic strain and might be contributing to the associated metabolic disturbances observed in our previous studies., M. Pravenec, K.-Y. Leung, V. Zídek, P. Mlejnek, M. Šimáková, J. Šilhavý, V. Kožich, N. D. E. Greene., and Obsahuje bibliografii
The work of a research team led by Professor Jaroslav Doležel at the Institute of Experimental Botany AS CR has contributed to an article in the journal Science. The International Wheat Genome Sequencing Consortium published a draft sequence of the bread wheat genome in the journal. The genetic blueprint of the wheat genome was obtained using the chromosome-based strategy developed by Professor Doležel’s team. The chromosome-based draft provides new insight into the structure, organization, and evolution of the large, complex genome of the world’s most widely grown cereal crop. The genetic blueprint is an invaluable resource to plant science researchers and breeders. For the first time, they have at their disposal a set of tools enabling them to rapidly locate specific genes on individual wheat chromosomes throughout the genome. and Jaroslav Doležel.
Brazilian native meliponines are currently threatened by increased human impacts. The assessment of their genetic variation by microsatellite DNA markers can assist in the conservation of populations and help in the planning and establishment of efficient management strategies. The purpose of this study was to develop the first set of microsatellite markers for Melipona fasciculata, selected from partial genome assembly of Illumina paired-end reads. Primer pairs were designed for each detected locus at their flanking regions. Bee samples were genotyped from two different populations of Northeastern Brazil for marker characterization and validation. A total of 17 microsatellite loci displayed polymorphism. Mean HE and HO heterozygosities were 0.453 and 0.536, respectively. PIC across all loci ranged from 0.108 to 0.714. A genetic diversity analysis revealed high values for population differentiation estimates (FST = 0.194, RST = 0.230, and Dest = 0.162) within the investigated region. PCoA and Bayesian clustering showed a separation of the species into two distinct clusters. These microsatellite markers have demonstrated strong potential for population-level genetic studies. Moreover, the preliminary analysis of the genetic diversity in M. fasciculata provides provisional evidence of significant population differentiation between the two studied populations., Geice Ribeiro Da Silva, Isis Gomes De Brito Souza, Fabia De Mello Pereira, Bruno De Almeida Souza, Maria Teresa Do Rego Lopes, Paul Bentzen, Fabio Mendonça Diniz., and Obsahuje bibliografii
The genetic variation in low temperature sensitivity of eight tomato genotypes grown at suboptimal temperature (19 °C) and at low irradiance (140 pmol m'2 s**) was assessed at the plant, chloroplast and thylakoid membrane levels. Temperature effects on the thylakoid membrane were determined by measuring the maximum fluorescence (Fp) and the maximal fluorescence rise (ADP) of induction traces of leaf discs at decreasing temperatures (30, 28, ... 0 °C). Two discontinuities were found in Fp versus temperature curves: a low temperature break at ca. 12 °C (LTB) and a high temperature break at ca. 22 °C (FITB). Below LTB, sFp and sDP were determined as the temperature induced changes in Fp, respectively ADP. Chloroplast functioning was determined by measuring net CO2 fixation rate (E^) of leaves. Plant performance was determined by measuring the increase in leaf area and sho ot dry mass in time. Correlations between the various parameters were analysed across the genotypic variation found. Chlorophyll (Chl) fluorescence parameters were not correlated with plant performance at suboptimal growth conditions. of leaves was correlated with plant performance, but only at ambient CO2. Effects of stomatal resistance on were large. The Chl fluorescence parameters LTB, sFp and sDP could distinguish between tomato genotypes. Nevertheless, the ranking of the genotypes depended on the specific parameter selected, indicating that each parameter assessed a different aspect of the heterogeneous temperature dependence of Chl fluorescence induction. Their genetic variation suggested that the genotypes differed in the organisation and fimctioning of the thylakoid membrane. These differences were not reflected in of leaves or plant performance.
Prof. Jiří Velemínský was in particular an extraordinary and enthusiastic scientist. He was one of the first who investigated botanical genetics on the molecular level, thus he is regarded as founder of this research field in the Czech Republic. Prof. Jiří Velemínský was an excellent organizer of Czech research activities and also he was an outstanding personality. He died 23 February 2008. and Helena Illnerová.
The region of Central Europe, Adriatic region and Balkan Peninsula were subjects of geo-kine matical monitoring in several projects performed since 1992. Independent GPS epoch-wise observing campaigns took place in several regions and the whole territory is now covered by tens of permanent stations. The long-term observational series from permanent stations generally yield reliable site velocities, however distribution of such stations is not dense enough to provide velocity field with sufficient resolution all over the monitored region. On the other si de the epoch-wise campaigns sites are much denser than the permanent ones, however the repeated epoch observations are not very frequent and their referencing is not unique. In the paper we shortly describe velo city fields available from various national and regional GPS geo-kinematics projects and an attempt to homogenize the heterogeneous velocity fields is presented. The intraplate GPS velocities in Central and South-East Europe and their reliability are discussed, mainly focusing on Adria and East Balkan region where the geo-kinematics is mostly variable and complicated., Ján Hefty., and Obsahuje bibliografické odkazy