Afroze, T. | bioRxiv Science

bioRxiv2019

Profiling Gene Specific Changes to RNA Editome in Preeclampsia

RNA editing is a form of post-transcriptional modification that results in changes to the messenger RNA sequence. At the onset of the study we focused on detecting the changes in RNA editing patterns in cell lines exposed to hypoxic conditions followed by the detection of changes in RNA editing patterns in the fetuses of preeclamptic mothers using publicly available RNA sequence data from the NCBI SRA database. The results showed an increase in RNA editing activity in hypoxic cell lines and a decrease in RNA editing activity in the fetuses with preeclamptic mothers. A total of 85 genes common in the cell lines and 33 in the fetus disease models and not present in controls were identified as harboring editing sites in exonic, downstream, upstream or splicing regions. Subsequently we focused on unique editing sites in genes and categorized in order of relevance to Preeclampsia as A, B and C (A being most closely related to the disease and C the least). The genes implicated ones involved in respiration chains, blood cell growth, cytokine and complement activation. Among the most significant of the genes were CTSB, GSR, CASP10, and MAPK13. Total number of common editing sites were found in different conditions and these were 667 for cell lines and 23 for fetuses. Validation of these variations in a larger samples size determines refined editing sites which could be used as potential diagnostic markers for intervention.

genomics↗

bioRxiv2018

Identifying Changes in RNA Editome Unique to Major Depressive Disorder

Major Depressive Disorder (MDD) is one of the most significant psychiatric disorders in the world today. Its incidence is widespread in society and its heavy adverse impact on the quality of life is well documented. Previously genetic studies on MDD had identified a hereditary component of the disease as well as crediting RNA editing with a role in its development. The later due to an overexpression of a heavily edited isoform of the Serotonin 2c receptor. Here we used publicly available RNA sequence data from suicide patients diagnosed with MDD as well as controls for identifying RNA editing sites unique to MDD. After variant calling and several steps of filtering, we identified 142 unique RNA editing sites in the MDD patients. These included intronic, downstream, UTR3 and exonic edits. The latter comprising several amino acid changes in the encoded protein. The genes implicated to be uniquely edited in MDD included the aforementioned and previously implicated Serotonin 2c receptor, others involved in functions that play roles in depression and suicide such as Cannabinoid Receptor 1, Frizzled Class 3 Receptor, Neuroligin 3 and others.

genomics↗