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Searching for the common function of the BBSome across the evolution and development
Mašková, Kristýna ; Štěpánek, Ondřej (advisor) ; Čajánek, Lukáš (referee)
The BBSome is a protein complex whose function is associated with ciliary trafficking. It has been found that the BBSome is evolutionarily conserved among ciliated organisms. The disruption of the BBSome leads to cilia dysfunctions and affects many signalling pathways. In humans, genetic defects in the BBSome are the cause of Bardet-Biedl Syndrome, which is a pleiotropic disease. The BBSome is studied separately in various model organisms and cell lines to understand the molecular functions of the BBSome. These studies have not been compared to see if there is a common BBSome function, which could be why the BBSome is evolutionarily conserved among ciliated organisms. In this bachelor's thesis, the knowledge about the BBSome was summarized and compared to identify a putative common function of the BBSome among various model organisms or cell types. It seems that there has not been found any BBSome function that could be identified as the common function because the BBSome has many specialized functions in different organisms and tissues. The only distant similarity is BBSome-dependent ciliary retrograde transport, which has been described in most of the studied model organisms and cell types.
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Anaemia disease models
Vondráková, Zuzana ; Bartůněk, Petr (advisor) ; Stopka, Tomáš (referee)
Hematopoiesis is a process by which blood cells are generated. All vertebrates have two phases of hematopoiesis - primitive and definitive. The main purpose of primitive hematopoiesis is the production of red blood cells, which provide oxygenation to the developing embryo. Other blood cell lineages are established by definitive hematopoiesis. The main function of erythrocytes is oxygen transport to all tissues. When erythrocyte production is decreased or they are damaged due to the membrane, enzyme or hemoglobin impairment, the condition called anemia arises. Sickle cell disease and β-thalassemia are called hemoglobinopathies as they are caused by the damaged hemoglobin. Fanconi anemia is caused by mutations in one of 21 genes of Fanconi anemia pathway, which plays an essential role in DNA repair. Diamond Blackfan anemia is caused by mutations gene for ribosomal proteins. Human cells, Mus musculus, Gallus gallus, Xenopus laevis and Danio rerio seem to be good models for study of this diseases and they are also useful for achieving therapeutical goals.
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