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Identifier

000433997

Title

Genetic variation and expression spliceoform study of a human Systemic Lupus Erythematosus cohort

Alternative Title

Ανάλυση γενετικής ποικιλομορφίας και έκφρασης των εναλλακτικών ισόμορφων ματίσματος σε κοορτή ασθενών με συστηματικό ερυθηματώδη λύκο

Author

Παπανικολάου, Σοφία

Thesis advisor

Νικολάου, Χριστόφορος
Μπερτσιάς, Γεώργιος

Abstract

The splicing of pre-mRNA is a key step in gene expression. Alternative splicing increases the complexity of the transcriptional output but in many cases it may also lead to the reduction of mRNA translation or to the production of non-functional or malfunctional proteins. The aim of this study is to detect and characterize the alternative splicing events that occur in patients suffering from Systemic Lupus Erythematosus, an autoimmune disease characterized by the production of auto-antibodies in the blood. To address the connection between SLE and alternative splicing, we used a bioinformatics tool to identify and quantify alternative splicing events based on RNA-Seq data from whole blood samples of 142 patients with SLE and 58 healthy individuals. We also performed differential alternative expression analysis between the two groups and determined the statistically significant alternative splicing events. Through computational approaches, the introduction of premature termination codons in the splice variant was examined in order to find out its possible effect to the mRNA fate. The affected genes were found to be implicated in immune processes such as antigen presentation and lymphocyte proliferation, while several genes have been associated with autoimmune diseases. This study supports a potential contribution of the alternatively spliced genes in SLE pathological processes, suggesting several biomarkers.

Language

English

Subject

Εναλλακτικό μάτισμα

Μεταγραφή

Υπολογιστικές μέθοδοι

Issue date

2020-12-17

Collection

School/Department--School of Medicine--Department of Medicine--Post-graduate theses

Type of Work--Post-graduate theses

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