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Molecular basis of phenotypic variability in male and female patients with Fabry disease
Rieger, Vojtěch ; Dvořáková, Lenka (advisor) ; Rothová, Olga (referee)
Fabry disease is an X linked illness caused by mutation in the GLA gene which codes lysosomal enzyme α-galactosidase A. The defect of this enzyme leads to progressive storage of neutral glycosphigolipids in the lysosomes which has significant physiological implications. Fabry disease has very variable clinical manifestations because of the combination of many factors, yet not all of them are known. Even though heterozygotic women carry also a wild type allel, they are not asymptomatic. Their symptoms, however, are usually in a milder form. Due the random inactivation of one of the X gonosomes, there is a posibility of skewed X inactivation pattern, which may inflict an increase of symptoms on the disordered woman. Many studies concerning X inactivation have been published, however their conclusions were contradictory. The purpose of this work is to summarise the causes of fenotypic variability in hemizygotes and heterozygotes with skewed X inactivation.
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ALBA-family proteins and their role in male gametophyte development
Náprstková, Alena ; Honys, David (advisor) ; Rothová, Olga (referee)
Alba family proteins are highly conserved in all domains of life. They are involved in RNA metabolism in Archae and Eucarya, while they are involved in the chromatin organisation in Crenarchaea. In animals, ALBA proteins were identified to associate with RNase P/MRP subunits. The objective of my thesis was the characterization of ALBA family proteins in a model plant Arabidopsis thaliana. The Arabidopsis genome contains six genes with close homology, three from Rpp20-like subfamily and three of Rpp25-like subfamily. Here I present the localization of GFP-fused proteins in Arabidopsis stable lines harbouring constructs cloned by Gateway® Technology. ALBA proteins were localized in the cytoplasm and undefined particles in root differentiation zone and in mature pollen. The characterization of the respective T-DNA insertion lines did not reveal significant phenotype defects in growth and development of sporophyte and gametophyte in comparison to Columbia-0 plants, probably because of likely functional redundancy od the paralogs. Expression profiles and localization of ALBA proteins suggest their possible role in differentiation and dehydration stress response in Oryza. They were also observed to associate with repressed mRNA transcripts in storage EPP particles. Collectively, I propose the likely role...
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Mutation and substitution rates in sexual and asexual forms: a clue to the persistence of sex in a model group of Cobitis?
Röslein, Jan ; Janko, Karel (advisor) ; Rothová, Olga (referee) ; Reifová, Radka (referee)
TITLE: Mutation and substitution rates in sexual and asexual forms: a clue to the persistence of sex in a model group of Cobitis? AUTOR: Jan Röslein DEPARTMENT: Ústav živočišné fyziologie a genetiky AVČR, v.v.i. SUPERVISOR: Mgr. Karel Janko, Ph.D. ABSTRACT: Subject of this thesis is to test several hypotheses about the evolution of asexual reproduction in model group of fish family Cobitis and its mutual competition among sexual and asexual forms, which touches one of the oldest unresolved issues of biology. Specifically, the work deals with the accumulation of non-synonymous mutations, which accelerated accumulation in the genome of clonal lineages theoretically leads to increased extinction compared with sexually reproducing populations (so-called. The theory of Muller's ratchet and Kondrashov's hatchet). This thesis is based on a normalized cDNA sequencing data from oocytes and liver tissue, which has served as a base matrix (generated based on non-normalized cDNA data) for transcriptome sequencing (RNAseq). Consequently, the RNAseq data have served as validation for acquired polymorphisms, detection of differential expression of allele- specific expression (ASE) hybrid biotypes. This diploma thesis balances among the edges of vast spectrum of hypotheses regarding the evolution of the genus hybrid...
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The effect of leaf structure on the leaf optical properties - Implication for water regime.
Neuwirthová, Eva ; Albrechtová, Jana (advisor) ; Rothová, Olga (referee)
Due to coal mining activities, heap substrates rich in clays with poor water permeability and lack of nutrients are relocated outside of mines representing hostile environment to the majority of vegetation. A material from the surface coal mines in Sokolov forming the Velká Podkrušnohorská Heap (VPS) form large locality showing characteristics of anthropogenically devasted landscape. The aim of the present study was to compare leaf structural and biochemical parameters with relation to a leaf reflectance of two pioneer tree species Salix caprea and Populus tremula with regard to leaf water regime and leaf adaptation to a water loss. From the methodological point of view, the study aimed on contribution to determine relation of selected leaf structural parameters to leaf reflectance what has not been intensively studied yet. The foliage of trees P. tremula and S. caprea grown on succession localities S2 a S3 for 30 years was used as a material for my study. The material was studied for its structure using the leaf cross sections nd abaxial epidermal strips (thickness of the leaf tissue layers and of a leaf, stomatal size density and area). Other studied parameters were contents of photosynthetic pigments, specific leaf area (SLA), water potential and leaf reflectance in regions of photosyntetically...
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Organoids - the phenomenon of complex organ-like structures cultivation in vitro
Vilímková, Veronika ; Janečková, Lucie (advisor) ; Rothová, Olga (referee)
Pluripotent embryonal stem cells (ESCs) are unique for their ability to proliferate and differentiate into almost all cell types. In the presence of appropriate stimuli, they are able to initiate morphogenesis in vitro. Stem cells are able to differentiate into specific cell lines of a given tissue and to arrange three- dimensional (3D) structures. These so-called organoids are formed in a self-organizing process that mimics normal ESCs development. Organ development is a complex process that requires temporally and spatially ordered regulatory signals. 3D organization of these structures allows important cell-cell interactions. Organoid cultures are thus the area of a huge potential. Organoids are accessible to all standard experimental manipulations. They are therefore an ideal tool for the research of stem cells, signaling pathways, organogenesis and disease modeling. Finally, they may open up new avenues for regenerative medicine and gene therapy. Powered by TCPDF (www.tcpdf.org)
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Genetic variability in growth, reproductive and photosynthetic parameters of plants and its changes by exogenously applied steroids
Rothová, Olga ; Holá, Dana (advisor) ; Motyka, Václav (referee) ; Hradilík, Jan (referee)
While animal steroid hormones are very well known and have been studied for a long time, in plants no steroid substances were known until relatively recently. Only in the second half of the past century brassinosteroids were discovered; later on, their hormonal function in plants was confirmed. Still a lot of unknown remains as regards their function in plant cells. This paper presents in its first part the evidence that brassinosteroids control in maize (Zea mays L.) grown under field conditions not only its morphology and yield but also some developmental/reproduction characteristics like e.g. number of female inflorescences or speed of the development of male inflorescences. Particular response of a plant depends, however, on the type of applied brassinosteroid, its concentration, and last but not least also on a particular maize genotype and developmental stage of the plant during applicatin. Impact of brassinosteroids on primary photosynthetic processes in plants has not been proven under these conditions, neither on the activity of photosystem (PS) I nor on the Hill reaction. No statistically significant differences in the content of photosynthetic pigments have been found either. Another topic dealt with in this thesis is the possible protective influence of brassinosteroids on plants...
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Characterization of the Hstx1 and Hstx2 hybrid sterility candidate genes
Kašíková, Lenka ; Jansa, Petr (advisor) ; Rothová, Olga (referee)
Speciation, the formation of new species, is an essential evolutionary process that causes species diversity on the Earth. At the beginning of this process is the separation of two populations by a reproductive barrier that prevents gene flow between these populations. One of the mechanisms, which enable reproductive isolation, is hybrid sterility (HS). It is a mechanism of postzygotic isolation that is described in a number of eukaryotes. The first discovered gene of hybrid sterility in vertebrates is the mice gene Hst1, later identified as gene Prdm9. By genetic and molecular analysis the locus on the X chromosome was determined, whose interaction with Prdm9 causes sterility or reduced fitness in male hybrids. This locus contains two genetic factors: Hstx1, causing an abnormal morphology of spermatozoa, and Hstx2, causing an arrest in spermatogenesis in pachytene spermatocytes and sterility. In my thesis I focus on the effect of deletion of a candidate hybrid sterility gene Fmr1nb on the X chromosome. The analysis of males B6N.Fmr1nbmut with deletion variants of the Fmr1nb gene showed that Fmr1nb is one of the factors influencing spermatogenesis. An increase in morphologic abnormalities in spermatozoa occurred in males with Fmr1nb gene deletion. This phenotype is identical with Hstx1. The effect...
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Úloha brassinosteroidů v odpovědi různých genotypů kukuřice na změny v zásobování vodou.
Trubanová, Nina ; Rothová, Olga (advisor) ; Hnilička, František (referee)
Brassinosteroids (BRs) have been recognized to alleviate damages caused by drought stress and to enhance tolerance to water deficit. Soaking of maize kernels before the sowing in solution with different 24-epibrassinolide concentrations (especially the 10-8 M) had a positive effect on growth of plants before and after the stress period, although it did not affected relative water content and photosynthetic parameters. After the recovery under optimal conditions there were no differences among the treatments. When compared to spraying, soaking of maize kernels was not proved to have any advantages, though its positive effect on plants germination under water deficit conditions could be possible. Based on the results of the second season experiment it is not possible to deduce the role of exogenous BRs application (spraying with 24-epibrassinolide) or endogenous BRs biosynthesis (spraying with biosynthesis inhibitor - brassinazole) in maize plants subjected to water deficit. However, decrease in relative water content in contrast to chlorophylls content increase during the days following after drought stress onset in both cultivars (contrastive in drought sensitivity) challenges for further investigation of this problem. Understanding the role of BRs in plant drought tolerance and resistance is...
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Accumulation of Zn, Cd and Pb in Agriculturally Important Cereals and Their Possible Genetic Modifications
Jarolímková, Víta ; Macek, Tomáš (advisor) ; Rothová, Olga (referee)
Cadmium, lead and zinc are taken up by plants from soil and atmosphere. Afterwards, they are redistributed within the plant body and often deposited in the parts that are processed in the food industry. Vegetal food therefore considerably contributes to the acquisition of essential zinc, but also to the accumulation of toxic cadmium and lead in the human body. As zinc deficiency and, on the other hand, cadmium and lead intoxication are global problems, accumulation of these metals is a topical issue. Increase in zinc deposition and decrease in cadmium and lead accumulation can be reached not only by traditional breeding and soil modification, but also by gene engineering methods. Soon, Zn-biofortified crops prepared via traditional breeding will be tested on a large-scale; overexpression of zinc ligands is researched as well. However, use of cisgenic or transgenic expression of plant metal transporters is currently a rather unexplored topic; yet it has the potential to target both the need for Zn-biofortification and decrease in cadmium and lead accumulation in edible parts of crops.
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