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Journal of Undergraduate Research

Keywords

splicing variants interferon 5, IRF5, systemic lupus erythematosus, SLE

College

Life Sciences

Department

Microbiology and Molecular Biology

Abstract

Systemic lupus erythematosus (SLE) is an autoimmune disease which commences from the immune system producing antibodies which target the body’s own tissues and cells. There are various factors thought to be involved in the development of SLE. In this study I assessed how the splicing variants of the interferon regulatory factor (IRF5) gene are affected by a single nucleotide polymorphism (SNP) associated with risk for systemic lupus erythematosus (SLE). Through this assessment I hoped to more fully determine the mechanisms through which this risk allele affects the development of SLE. IRF5 is a cytoplasmic transcription factor gene responsible for interferon production. Polymorphisms of IRF5 are genetically associated with SLE (2). A trait of SLE patients is the presence of elevated levels of interferon (proteins that are invaluable in the immune systems response to viral infection) (3). Previous research has shown that the risk of SLE is strongly associated with the single-nucleotide polymorphism (SNP) rs2004640 “T” allele in IRF5. This has been confirmed multiple times across many ethnicities (4). This specific allele creates a novel splice acceptor site in the RNA. My research focused on obtaining data on how the systemic lupus IRF5 risk haplotype affects the cells of the immune system by assessing its splicing variants through PCR and DNA sequencing.

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Microbiology Commons

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