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Title: Are nuclear insertions of mitochondrial origin pseudogenes?
Author: Sanchez Delgado, Marta
Tutor: Jordana, Xavier  
Others: Universitat Oberta de Catalunya
Merino, David  
Abstract: Nuclear mitochondrial DNA sequences (NUMTs) are the result of a continuous DNA transfer from mitochondria to the nucleus. Over the years, lots of studies had performed in NUMTs sequences at the DNA level but, are these regions encoding genes? In 2011, in a published work led by C. Santos, it was identified 755 NUMTs in the human genome. The main objective of the present master's final project has been the in-silico creation of a database containing the list of annotated genes within these 755 NUMTs sequences and their expression profile. With this work, we want to improve our knowledge about NUMTs impact on nuclear DNA by its potential contribution to the transcriptome. The database information was extracted first from the ENSEMBL and Gene Ontology (GO) annotations by a combination of in-house R scripts and the use of BioMarts package (from Bioconductor project package repository). Additionally, by using the public information of RNA-seq from GTEx Portal database and in-house R script, we show the expression profile of our list of genes. Most of these genes are currently annotated as pseudogenes in ENSEMBL, but we show that a total of 65 genes are expressed in at least, one human tissue. In conclusion, our results show that not all genes within NUMTs are pseudogenes and it is needed the manual change of at least, 63 genes classified as "pseudogene" in the Ensembl Biotype since these genes are expressed.
Keywords: NUMT
mitochondrial DNA
gene expression
Document type: info:eu-repo/semantics/masterThesis
Issue Date: 6-Jun-2018
Publication license:  
Appears in Collections:Trabajos finales de carrera, trabajos de investigación, etc.

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