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    Nat Genet. 2004 Apr;36(4):337-8. Epub 2004 Mar 7.

    A functional variant of lymphoid tyrosine phosphatase is associated with type I diabetes.

    Bottini N, Musumeci L, Alonso A, Rahmouni S, Nika K, Rostamkhani M, MacMurray J, Meloni GF, Lucarelli P, Pellecchia M, Eisenbarth GS, Comings D, Mustelin T.

    Program of Signal Transduction, Cancer Research Center, The Burnham Institute, 10901 North Torrey Pines Road, La Jolla, California 92037, USA.

    We report that a single-nucleotide polymorphism (SNP) in the gene (PTPN22) encoding the lymphoid protein tyrosine phosphatase (LYP), a suppressor of T-cell activation, is associated with type 1 diabetes mellitus (T1D). The variants encoded by the two alleles, 1858C and 1858T, differ in a crucial amino acid residue involved in association of LYP with the negative regulatory kinase Csk. Unlike the variant encoded by the more common allele 1858C, the variant associated with T1D does not bind Csk.

    PMID: 15004560 [PubMed - indexed for MEDLINE]

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