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|
Identifier |
000451582 |
Title |
Analysis of NGS data for disease understanding |
Author
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Γιαννάκου, Δανάη
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Thesis advisor
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Παυλίδης, Παύλος
Γρηγορίου, Μαρία
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Reviewer
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Νικολάου, Χριστόφορος
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Abstract |
Systemic lupus erythematosus (SLE) is a systemic autoimmune disease
facilitated by aberrant immune responses directed against cells and tissues,
resulting in inflammation and organ damage. The majority of cells involved in the
pathogenesis of SLE originate from bone marrow (BM) derived haematopoietic
stem and progenitor cells (HSPCs). Previous research suggests that in SLE,
haematopoiesis is dysregulated, with a skewing toward the myeloid lineage at
the expense of lymphopoiesis. Also, HSPCs acquire a primed phenotype with a
"trained immunity" signature, which may contribute to inflammation and flare
risk. However, whether the epigenetic profile is implicated in this particular
dysregulation, is still unknown. DNA methylation can regulate gene expression
by inhibiting the binding of transcription factors (TFs) to DNA. Such TFs can
be cis-regulatory elements (CREs) that typically regulate gene transcription by
binding to other transcription factors as CCCTC-binding factor (CTCF). Herein,
we show that differentially expressed genes (DEGs) and more specifically genes
that are involved in myeloid-related pathways are possible regulated by distant
methylated regulatory factors. We found that CREs, specifically enhancers that
are up to 2Mb away from DEGs are methylated, while other transcription factors
in those distances such as CTCF binding sites are also altered by methylation.
Here, we show these modifications along with the expressions of DEGs and at
the same time, we indicate the significance of their relationship. The findings
suggest that interactions of distant methylated CREs and TFBS with DEGs
cause HSPCs to reprogramme towards myeloid lineage, which may contribute to
increased immunological responses and flares in SLE.
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Language |
English |
Subject |
Bioinformatics |
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CLP |
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CMP |
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DNA-methylation |
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HSPCS |
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RNA-sequencing |
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Systemic lupus erythematosus |
Issue date |
2022-07-29 |
Collection
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School/Department--School of Medicine--Department of Medicine--Post-graduate theses
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Type of Work--Post-graduate theses
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Permanent Link |
https://elocus.lib.uoc.gr//dlib/1/7/4/metadata-dlib-1665649625-366620-11275.tkl
|
Views |
289 |