Nature Genetics36, 337 - 338 (2004)
Published online: 7 March 2004; | doi:10.1038/ng1323
A functional variant of lymphoid tyrosine phosphatase is associated with type I diabetes
Nunzio Bottini1, Lucia Musumeci1, Andres Alonso1, Souad Rahmouni1, Konstantina Nika1, Masoud Rostamkhani2, James MacMurray2, Gian Franco Meloni3, Paola Lucarelli4, Maurizio Pellecchia1, George S Eisenbarth5, David Comings2
& Tomas Mustelin1
1
Program of Signal Transduction, Cancer Research Center, The Burnham Institute, 10901 North Torrey Pines Road, La Jolla, California 92037, USA.
2
Department of Medical Genetics, City of Hope Medical Center, Duarte, California 91010, USA.
3
Department of Pediatrics, University of Sassari, Sassari, Italy.
4
Italian National Research Council, Rome, Italy.
5
Barbara Davis Center for Childhood Diabetes, University of Colorado Health Science Center, Denver, Colorado 80262, 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.
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