The Role of Pleiotropy in the Regulation of Gene Expression
Name
Pilleriin Jukk
Abstract
Gene expression is a process by which genetic information is used to produce RNA or protein. By studying gene expression, it is possible to identify the causes and develop suitable treatment methods for diseases. However, the regulation of gene expression is not specific. It means that there is pleiotropy, i.e. one genetic variant affects several features at once. In addition, because nearby variants are correlated, such studies result in multiple causal variants from which it is difficult to draw conclusions. The goal of this paper was to find out how horizontal pleiotropy affects the regulation of gene expression. For this, gene expression and transcription fine-mapping results (Kerimov et al., 2020) were analyzed. It was compared whether in some processes variants were associated with fewer genes than in gene expression. It was found that the research results of all four processes – transcription selection, RNA splicing, promoter and terminator usage – are significantly more specific than those in gene expression. The results suggest that variants affecting transcription selection, RNA splicing, promoter and terminator usage should first be investigated to identify causal genes as these four processes have less horizontal pleiotropy and are therefore more accurate. These processes also make it easier to determine through which gene the causal variant influences the disease.
Graduation Thesis language
Estonian
Graduation Thesis type
Bachelor - Computer Science
Supervisor(s)
Kaur Alasoo
Defence year
2021