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Sousa, Pedro, 2013. Functional Analysis of PTPN3 associated with Immune-Mediated Rheumatic Disease in Nova Scotia Duck Tolling Retrievers. Second cycle, A2E. Uppsala: SLU, Dept. of Animal Breeding and Genetics



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.

Main title:Functional Analysis of PTPN3 associated with Immune-Mediated Rheumatic Disease in Nova Scotia Duck Tolling Retrievers
Authors:Sousa, Pedro
Supervisor:Kosyrev, Sergey and Andersson, Göran and Sölkner, Hans
Examiner:Strandberg, Erling
Series:Examensarbete / SLU, Institutionen för husdjursgenetik
Volume/Sequential designation:421
Year of Publication:2013
Level and depth descriptor:Second cycle, A2E
Student's programme affiliation:Other
Supervising department:(VH) > Dept. of Animal Breeding and Genetics
Keywords:lupus, gene expression, genetic association, cloning, luciferase assay
Permanent URL:
Subject. Use of subject categories until 2023-04-30.:Animal genetics and breeding
Veterinary science and hygiene - General aspects
Deposited On:10 Sep 2013 15:36
Metadata Last Modified:10 Sep 2013 15:36

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