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Significance of MLL gene aberrations in patients with acute myeloid leukemia
Šárová, Iveta ; Březinová, Jana (advisor) ; Král, Jiří (referee)
4 ABSTRACT Significance of MLL gene aberrations in patients with acute myeloid leukemia In acute myeloid leukemia (AML), predominantly in AML M5a, the most frequent recurrent aberration of chromosome 11 involves region 11q23. Molecular breakpoint studies of several translocations involving chromosomal band 11q23 led to the detection of a gene that was named MLL (myeloid/lymphoid leukemia). Since that time, more than 70 different translocation partners of the MLL gene have been described. This gene is important for the proper HOX gene expression during ontogenesis and hematopoiesis. Chromosomal aberrations affecting the MLL gene occur in 5 - 10 % of AML cases and are very variable. Aberrations of the MLL gene are associated with an aggresive type of the disease and its detection is needed for the treatment decision. Therefore, we investigated the occurrence of MLL abnormalities in bone marrow cells of the 66 newly diagnosed AML patients, using conventional cytogenetic and fluorescence in situ hybridization (FISH) analyses with a commercially available MLL Break Apart Rearrangement probe (Abbott VYSIS). Out of the 66 patients, we proved MLL abnormalities in 9 (13,6%): 5 (7,6%) showed translocation of MLL gene, in 3 (4,5%) we detected MLL gene amplification without any evidence of rearrangement and in 1 (1,5%)...
Karyotype evolution of African clades of theraphosid mygalomorphs
Košátko, Prokop ; Král, Jiří (advisor) ; Nguyen, Petr (referee)
Karyotypes of mygalomorph spiders are not satisfactorily known. This thesis is focused on the basic cytogenetic analysis of selected species of African clades of theraphosid mygalomorphs. It includes four subfamilies: Eumenophorinae, Harpactirinae, Ischnocolinae and Stromatopelminae. Diploid numbers, chromosome morphology, sex chromosome systems and chromosome behaviour in male germline in the selected species of African theraphosid subfamilies were studied. The findings support published results, that refer of high karyotype diversity in Theraphosidae. Diploid chromosome number reduction is probably a basic trend of theraphosid karyotype evolution. The majority of analysed species exhibited one, two or three sex chromosomes. In some species neo-sex chromosome systems were found. In some species one or two sex chromosome pairs (SCP), composed of chromosomes which lack morphological differentiation were detected. Nucleolus organizer regions were detected by fluorescent in situ hybridization in several species. Constitutive heterochromatin detection was performed by C-banding in two species. Keywords: constitutive heterochromatin, diploid number, karyotype, fluorescence in situ hybridization, Mygalomorphae, nucleolus organizer region, SCP, sex chromosome, spider, Theraphosidae
Influence of sigle nucleotide mutations on influenza pathogenicity
Nitkulincová, Lucie ; Drda Morávková, Alena (advisor) ; Král, Jiří (referee)
Influenza virus caused several times the global concerns about the emergence of pandemics, in recent years. The most serious problem, in the fight against this virus, is its ability to quickly change its unusually antigenic specificity by reassortment and point mutations, especially in surface glycoproteins - haemagglutinin and neuraminidase. In this thesis I focused on point mutations in the hemagglutinin of influenza virus causing change in binding preference, which enables both influenza virus transmission between different hosts and unlimited proliferation in their tissues. The permanent change in amino acid sequence and thus the surface of hemagglutinin also largely prevents the host's immune system to destroy the virus efficiently and quickly enough to recognize when another infection. Each of the haemagglutinin subtypes has a different amino acid positions affecting its binding preference. Their summary is included in this thesis. Key words: influenza, single nucleotide mutations, pandemia, patoghenicity, hemagglutinin
Genetic interactions of the Prdm9 gene
Šebestová, Lenka ; Trachtulec, Zdeněk (advisor) ; Král, Jiří (referee)
The Prdm9 gene (PR domain containing 9, Meisetz, Hybrid sterility 1) encodes enzyme that trimethylates histone 3 on lysines 4 and 36. These methylation marks determine the positions of DNA double-strand breaks that are repaired by meiotic homologous recombination. In this study, we assayed genetic interactions of Prdm9 with two genes important for spermatogenesis - Mili (Piwil2) involved in piRNA biogenesis and Mybl1 encoding transcription factor that regulates many genes important for prophase I, including piRNA precursors. We crossed laboratory mice carrying mutation in Prdm9 with heterozygotes for mutation in Mybl1 or Mili, and created compound heterozygotes and, in case of Mybl1, also double homozygotes. We assessed body weight and male fertility parameters (weight of testes, sperm count, malformed sperm, percentage of tubules containing spermatocytes and of abnormal nuclei of pachytene spermatocytes) of these mice and compared them to controls. We also investigated the effect of Mybl1 and Mili mutations on fecundity of F1 intersubspecific hybrids. Our results revealed possible interactions of Prdm9 and Mybl1 in the laboratory mouse. Decreased gene dosage of Mybl1 reduced fertility of intersubspecific F1 hybrids. Interaction between Prdm9 and Mili in both laboratory mouse and F1 hybrids remain...
Turner syndrome and its relation with X chromosome inactivation
Kašíková, Lenka ; Schierová, Michaela (advisor) ; Král, Jiří (referee)
Turner syndrome (TS) is a genetic anomaly occurring in women with worldwide frequency 1:2,000. Turner syndrome's possible causes include X chromosome monosomy, mosaic karyotype (45,X/46,XX; 45,X/46,XY; 45,X/47,XXX), X isochromosome (46,X,i(Xq)), ring X chromosome (45,X/46,X,r(X)), and other X chromosome aberrations (deletion and translocation). Patients with Turner syndrome (with the exception of ring chromosome abnormalities) aren't diagnosed with mental retardation. Turner syndrome is closely related to the regulation of gene expression level, particularly with X chromosome inactivation. Genes escaping the X chromosome inactivation process in 45,X women are expressed in half the dose of a healthy woman. An example of such a gene is SHOX, which I decided to focuse on in this thesis. SHOX gene haploinsufficiency causes major Turner syndrome phenotype manifesting of short body and bone abnormalities. The research of other genes with possible roles in Turner syndrome is complicated by the absence of adequate model organism, which could be used for TS study with possibility to extrapolate the results to humans. In mice, both the inactivation process itself is different and the phenotypic manifestation of X monosomy (39, X) is also much milder than in 45,X women. This difference could be explained by...
Karyotype analysis of mygalomorph spiders of the families Hexathelidae and Dipluridae
Hrubá, Barbora ; Král, Jiří (advisor) ; Sember, Alexandr (referee)
Cytogenetics of spiders of the infraorder Mygalomorphae is largely unknown. My thesis is focused on the karyotype evolution of spiders of families Hexathelidae Dipluridae, which are basal groups of the superfamily Avicularioidea. In this thesis the evolution of diploid chromosome number, chromosome morfology, and also sex chromosomes are studied. The karyotypes of the mygalomorphs are quite interesting for their diversity. Many members of the family Hexathelidae exhibit extreme systems of a chromosomal sex determination which are composed by many gonosomes X. The meiotic division of males is analyzed. Some species exhibit modifications of this division such as achiazmatic meiosis. Selected markers have been detected by fluorescence in situ hybridization. Keywords: evolution, fluorescent in situ hybridization, karyotype, nucleolus organizer region, sex chromosomes, spider
Sequence analysis of SIX homeobox family in Craspedacusta sowerbyi
Vojta, Petr ; Pačes, Jan (advisor) ; Král, Jiří (referee)
Homeobox genes are generally known as key factors directing processes during the morphogenesis of organ systems. Recently, research of homeobox genes evolution has focused on evolutionary old groups of species, such as Cnidarians. ln Cnidarians, there are more homeobox genes compared with more complex organism, such as fruit flies. Several homeobox genes have also been described in plants and fungi. General opinion is that homeobox genes are a very old group of genes, originating even before the main kingdoms of multicellular organisms. Six homeobox genes that have been identified as homologues of Drosophila sine oculis, an important factor for compound-eye formation, take part in numerous developmental processes directed by the PAX-SIX-EYA signal pathway. ln Vertebratae, as representatives of Deuterostomes, there are six genes in three sub groups, whereas in Drosophila melanogaster, as a representative of Protostomes, three homologues have been described, always one for each subgroup. The ancestral six genes diverged even before the divergence of groups Bilateralia and Cnidaria. ln freshwater jellyfish Craspedacusta sowerbyi we distinguished both HD and SD regions for five SIX proteins. Four of these six genes of Craspedacusta sowerbyi belong to the established Six groups (Sixl/2, Six3/6 a Six4/5), where...
Origin, degeneration and detection of sex chromosomes
Jílková, Klára ; Král, Jiří (advisor) ; Kratochvíl, Lukáš (referee)
Sex chromosomes evolved from a pair of autosomes and they are differentiated as a result of supression of recombination. This process leads to a successive degradation of odd sex chromosome (alosome), which is becoming genetically inert finally or even excluded. Fundamental processes taking part in degeneration of alosome are Muller's ratchet, genetic hitchhiking, background selection, accumulation of transposable elements and constitutive heterochromatin. Indeed, these processes take part in either degeneration of both Y or W chromosomes. Remarkably, these alosomes show different rates of degeneration, most probably due to 1) different structure of male and female gonads as well as 2) different course of gametogenesis in both sexes. Furthermore, rate of alosome degeneration is usually lower in plants because they are haploid during the major part of life cycle. Other mechanisms of sex chromosome evolution involve rearrangements between autosomes and gonosomes, nondisjunctions and fissions of original sex chromosomes, transformation of B chromosomes into sex chromosomes or non-random segregation of autosomes with sex chromosomes. Other phenomenon that appears in sex chromosome evolution is transition between XY/XX and ZW/ZZ systems or transition between chromosomal sex determination and epigamy. Actually,...
Polyploidy with specific view to paleopolyploidy and its detection
Kotz, Matěj ; Král, Jiří (advisor) ; Rothová, Olga (referee)
Polyploidy is a significant phenomenon in the evolution of eucaryotic organisms. It has been a subject of interest of biologists for decades and it has been studied particularly largely in plants, where it most often occurs. This thesis handles occurrence of poylploidy in organims and a special emphasis is laid on old polyploidization events occurrence of polyploidy in animal taxa. Furthermore, the types of polyploidy and obstacles are discussed here, that a polyploid organism has to tackle to stabilize its genome. That also includes the need to ensure the correct chromosome segregation in a meiotic division. A special case of polyploidy is paleopolyploidy (sometimes refered to as "ancient polyploidy" in English), which is an evolutionary old polyploidization event, that is followed by the process of diploidization. This process is characterized besides others by a large number of structural changes in chromosomes and a loss of some DNA sequences and a gradual transition of the polyploid genome to the cytologically diploid state. Because of these changes, it is difficult to detect a paleopolyploidy and the main part of this thesis is dedicated to this problem, in which the main approaches that might lead to its detection are discussed. Key words: polyploidy, animal, plant, meiosis, paleopolyploidy,...
Genetic factors affecting course of selected forms of nephrotic syndrome
Šafaříková, Markéta ; Štekrová, Jitka (advisor) ; Král, Jiří (referee)
Nephrotic syndrome (NS) is characterized by proteinuria, hypalbuminemia and edemas. It occurs during first and second glomerulopathies. This disease can be divided into two groups: primary (idiopathic) and secondary. The heredity of the familial nephrotic syndrome is autosomal dominant and autosomal recessive. There are four most important genes that condition the formation of hereditary nephrotic syndrome in adult patienst. These genes are ACTN4, CD2AP, NPHS2 and TRPC6. The gene ACTN4, which encodes protein α-actinin 4, is responsible for the autosomal dominant form of focal segmental glomerulosclerosis (FSGS). FSGS is included in first glomerulopathies. α-Actinin 4 was also researched for some types of carcinomas. There was performed the mutational analysis of the gene ACTN4 on the set of 48 patients with nephrotic syndrome in this diploma thesis. High resolution melting (HRM) analysis and sequencing selected samples were used during this mutation detection. During this process many published and unpublished SNPs and one unpublished candidate mutation that could have causal associations with FSGS were found.

National Repository of Grey Literature : 107 records found   1 - 10nextend  jump to record:
See also: similar author names
4 KRÁL, Josef
13 Král, Jakub
37 Král, Jan
1 Král, Jan (Ing.)
1 Král, Jan (RNDr.)
1 Král, Jaromír
8 Král, Jaroslav
2 Král, Jindřich
4 Král, Josef
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