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Title: | Análisis comparativo de smallRNAs en síndrome de Rett mediado por MECP2 y síndrome atípico de Rett mediado por FOXG1 |
Author: | Hernández Correa, Fernando |
Tutor: | Fernandez, Guerau |
Others: | Maceira, Marc Canovas Izquierdo, Javier Luis |
Abstract: | miRNAs are a type of non-coding smallRNAs that make an important procedure on genetic control. In this work, a full analysis of two smallRNA-seq experiments has been done. These two experiments consist on two similar disorders: the Rett syndrome as a result of MECP2 mutation and a atypical Rett syndrome as a result of FOXG1 mutation. Both experiments are focused in miRNA analysis. Initial results are not showing common miRNAs differentially expressed in both conditions, but a complete isomiRs analysis hasn't been done. IsomiRs are variants of the miRNA reference sequence, which could be significant in order to find common genetic elements in both disorders. This work is based on smallRNA-seq datasets available on SRA platform and makes a full analysis of miRNAs/isomiRs DE. It has been done a prediction of targets and the analysis of GO terms, as well as a KEGG pathways enrichment over the results. With this purpose, a full pipeline with bioinformatic tools has been performed, which can be used to analize similar experiments. Common miRNAs DE have been found, like miR200a and miR200b (downregulated), as well as miR92a, miR148a and miR431 (up-regulated). The analysis of targets of these miRNAs has shown interesting conclusions in the study of both syndromes. Like some destabilized pathways with common and differential elements. This work has been made only in a bioinformatic way, without any experimental checking over the results. |
Keywords: | smallRNA MECP2 FOXG1 |
Document type: | info:eu-repo/semantics/masterThesis |
Issue Date: | 10-Jun-2020 |
Publication license: | http://creativecommons.org/licenses/by-nc-nd/3.0/es/ |
Appears in Collections: | Trabajos finales de carrera, trabajos de investigación, etc. |
Files in This Item:
File | Description | Size | Format | |
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fhernandezcorTFM0620memoria.pdf | Memoria del TFM | 4,09 MB | Adobe PDF | View/Open |
fhernandezcorTFM0620annexo1.pdf | Annexo 1 al TFM del TFM | 3,23 MB | Adobe PDF | View/Open |
fhernandezcorTFM0620annexo2.pdf | Annexo 2 al TFM del TFM | 2,9 MB | Adobe PDF | View/Open |
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