|
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
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School/Department--School of Medicine--Department of Medicine--Post-graduate theses
|
|
Type of Work--Post-graduate theses
|
Views |
245 |