Functional Analysis of PTPN3 associated with Immune-Mediated Rheumatic Disease in Nova Scotia Duck Tolling Retrievers

University essay from SLU/Dept. of Animal Breeding and Genetics

Abstract: This study investigates whether risk haplotypes of highly associated regions in PTPN3 gene in dogs suffering from immune mediated rheumatic disease, might affect the regulatory potential and expression levels of this gene influencing the phenotype. The overall aim of this thesis is to identify causative mutations that may alter PTPN3 gene expression in NSDTRs with risk for IMRD. Risk haplotypes are associated with dogs expressing ANA positivity and phenotypic signs of illness. It was previously shown that dogs from the breed Nova Scotia duck tolling retriever (NSDTR) reveal a high degree of susceptibility to autoimmune rheumatic diseases. Specific aims: 1. Bioinformatics analysis of 3’UTR and the associated region located in intron 18 of PTPN3 gene and DNA sequencing analysis of regions of interest. 2. Determine functional differences between risk and protective haplotype variants of 3´UTR and intron 18 regions of PTPN3 gene in NSDTRs, using recombinant DNA techniques, molecular cloning, transient transfection of Jurkat T-cells and MDCK cells, reporter gene assays and RNA degradation analysis will be performed to develop this study.

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