20.500.12556/RUL-130188 Zamenjava posameznih nukleotidov z uporabo tehnologije CRISPR/Cas Replacement of individual nucleotides using the CRISPR/Cas technology Tehnologija CRISPR/Cas se uporablja za preurejanje genoma. Gre za sistem, ki izhaja iz pridobljenega imunskega sistema prokariontov. V biotehnologiji se uporablja modificirana metoda, ki temelji na spojitvi sgRNA molekule in Cas endonukleaze. Točkovne mutacije so posledica tranzicij in transverzij. Take spremembe nukleotidov v genomu lahko vodijo do razvoja bolezenskih stanj. Na podlagi sistema CRISPR/Cas se razvijajo urejevalci posameznih nukleotidov, ki omogočajo spreminjanje posameznih nukleotidov. Ti temeljijo na pripojitvi deaminaz ali reverznih transkriptaz na endonukleazno neaktivne mutante Cas9 proteina (npr. Cas9 nikaza, katalitično neaktivni Cas9 – dCas9). Urejevalci posameznih nukleotidnih baz omogočajo zamenjavo posameznega nukleotida za drug nukleotid. Z razvojem urejevalcev posameznih nukleotidov se odpira možnost zdravljenja predvsem monogenskih bolezni, kot so npr. anemija srpastih celic, β-talasemija in amiotrofična lateralna skleroza, kjer so vzrok bolezni točkovne mutacije. The CRISPR/Cas technology is used to edit genomes. It is a system, derived from the acquired immunity of prokaryotes. A modified method based on the fusion of the sgRNA molecule and a Cas endonuclease is used in biotechnology. Point mutations are the result of transitions and transversions. Such changes of nucleotides in the genome can lead to development of diseases. CRISPR/Cas-base editors of single nucleotide bases are being developed to modify individual nucleotides. The base editors are a fusion of deaminase enyzmes or reverse transcriptases to Cas9 proteins (e.g., Cas9 nicase or catalytically inactive Cas9 - dCas9). Base editors enable replacement of individual nucleotides in deamination reactions. Development of base editors will be useful to treat monogenic diseases such as sickle cell anemia, β-thalassemia and amytrophic lateral sclerosis, where single nucleotide mutations are the cause of diseases. CRISPR/Cas SNP urejanje genoma urejevalec posameznih nukleotidov CRISPR/Cas SNP nucleotide genome editing base editor true false false [D. Krisper] Slovenski jezik Angleški jezik Diplomsko delo/naloga 2021-09-11 07:16:48 2021-09-11 07:16:52 2022-09-09 04:15:13 0000-00-00 00:00:00 2021 0 Ljubljana 0 0000-00-00 NiDoloceno NiDoloceno NiDoloceno 0000-00-00 0000-00-00 0000-00-00 602.6:602.8:575.111(043.2) 195888 76653059 19063.pdf 19063.pdf 1 60648E175A5EB5BD318D6DD24DC3AE0F bf90a08085738a52b852b49892ae70d713da2fe1d77d41d51e957f2cfe566739 38be900e-12bf-11ec-a523-00155dcfd717 https://repozitorij.uni-lj.si/Dokument.php?lang=slv&id=147250 Biotehniška fakulteta 0 0 0