Journal
GENETICS AND MOLECULAR RESEARCH
Volume 11, Issue 2, Pages 1266-1271Publisher
FUNPEC-EDITORA
DOI: 10.4238/2012.May.9.6
Keywords
Mutation; SH2B3; Single nucleotide polymorphism; NOD
Funding
- Key Natural Science Program of Beijing [7101008]
- National Key Basic Research Program of China [2010CB911904]
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Type 1 diabetes is a chronic progressive autoimmune disease characterized by mononuclear cell infiltration, with subsequent destruction of insulin-producing beta-cells. Studies have identified strong associations between type 1 diabetes and several chromosome regions, including 12q24. Association between type 1 diabetes and 12q24 arises from SNP rs3184504; rs3184504 is a nonsynonymous SNP in exon 3 of SH2B3 (also known as LNK). Nonobese diabetic (NOD) mice recapitulate many aspects of the pathogenesis of type 1 diabetes in humans and are therefore frequently used in studies addressing the cellular and molecular mechanisms of this disease. It is of interest to know whether there is a similar mutation of SH2B3 in NOD mice. We found that the SH2B3 mutation is absent in NOD mice. To our knowledge, this is the first report of the sequence and the protein levels of SH2B3 in NOD mice.
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