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Genetic factors influencing the characteristic facial features of people with psychical disorders
Frajbišová, Aneta ; Šolc, Roman (advisor) ; Kočandrlová, Karolina (referee)
The facial part of the head of the embryo is formed alongside with the brain from the same precursors. The face is formed from the neural crest cells, which arise from the neuroepithelium. This means that if there is some kind of disruption in the early development of the brain, it will be shown in the face. The neuroepithelium induces the expression of many important genetic factors for the formation of the face. For example PAX3, Dsl-1, HMGN1. However, environmental factors also have an impact on the final look of the face. The environmental factors are for example diet or the way of breathing. Persons with the syndromatic psychic disorders have well known and researched facial morphology compared to persons with asyndromatic psychic disorders such as schizophrenia, ASD, OCD and bipolar disorder, which are still the object of many studies. Genetic factors that have an impact on facial dysmorphology, are usually genes that have their main role in the central nervous system or they indirectly impact through signalling pathways on other genes, which are known to have an impact on the face such as Fgf genes. The goal of this thesis is to determine these genetic factors.
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Detailed characterization of the interaction between LEDGF/p75 and MeCP2
Naušová, Karolína ; Veverka, Václav (advisor) ; Hrabal, Richard (referee)
Epigenetics investigates heritable phenotype changes that are not caused by alternations in DNA sequence. Major epigenetic mechanisms include covalent DNA modifications (particularly methylation), histone and chromatin modifications and RNA interference. These mechanisms are involved in number of processes from transcription to translation. Lens epithelium-derived growth factor (LEDGF/p75) is ubiquitously expressed in human body and it is considered to be a transcriptional coactivator upregulated upon stress conditions. LEDGF/p75 consists of several domains. The N-terminal PWWP domain plays very important role from epigenetic point of view as it is able to bind di- and trimethylated lysine 36 of histone 3, which is considered as an epigenetic marker of transcriptionally active chromatin. LEDGF/p75 interaction partners include e.g. HIV integrase, MLL1-MENIN complex or MeCP2. A shorter isoform of LEDGF/p75 called LEDGF/p52 shares with LEDGF/p75 its N- terminal part that is responsible for interaction with DNA and chromatin. Methyl-CpG-binding protein 2 (MeCP2) is present everywhere in human body with the highest abundance in brain. MeCP2 is a transcriptional modulator remodelling chromatin, therefore its function is to activate or repress gene depending on the molecular and cellular context. Among...
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