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Comparison of effects on immunity and autoimmunity of impairment of SH2B3 gene function in human and mice

Musu, Ester (2019) Comparison of effects on immunity and autoimmunity of impairment of SH2B3 gene function in human and mice. Doctoral Thesis.

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Aim: The genetic and physiological similarities between mice and humans have led to dedicate a remarkable attention on murine models in the biomedical research. Our objective is to identify the molecular origins of autoimmunity diseases and immunosenescence by the analysis of a knock-out (KO) mouse model, SH2B3 deficient mouse, as model of autoimmunity. The study includes the comparison of SH2B3 KO mouse immune traits with those of human carriers of a specific genetic variant localized in the SH2B3 gene, the nsSNP rs3184504-T, that is associated with the significant increase of specific cell (Orrù, 2013) and with several autoimmune diseases; moreover the impact of ageing on immune trait levels is considered. To this aim we measured specific immune traits in SH2B3 KO mouse at 2/3, 6/7, 10/11, 14/15 and 18 months.
Methods: To detect immune traits we examined SH2B3 KO and wild-type (WT) blood mice by flow cytometry, complete blood count and immunoassay.
Results: At 2/3 and 6/7 months, we noted a significant increment of leukocytes, granulocytes, monocytes, platelets, immunoglobulins, B cells and subtypes, T cell and subtypes in SH2B3 KO mice compared to WT. At 10/11, 14/15 and 18 months, the increment in SH2B3 KO mice compared to WT mice was maintained for all immune traits, except for T cell and their subtypes.
Conclusions: Considering the obtained data from mouse and the comparison with human data, we believe that the KO model helps us to define the role of the SH2B3 gene, but not to clarify the specific effect of the allelic variant rs3184504-T.

Item Type:Doctoral Thesis
ID Code:11962
Contributors:Cucca, Francesco and Manchinu, Maria Francesca and Orrù, Valeria
Publisher:Universita' degli studi di Sassari
Uncontrolled Keywords:SH2B3, mouse model, autoimmunity
Subjects:Area 06 - Scienze mediche > MED/03 Genetica medica
Divisions:001 Università di Sassari > 01-a Nuovi Dipartimenti dal 2012 > Scienze Biomediche
Cicli, scuole e corsi:Ciclo 30 > Scienze biomediche > Genetica medica
Deposited On:19 Apr 2019 12:24

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