Article (Scientific journals)
A functional variant of lymphoid tyrosine phosphatase is associated with type I diabetes.
Bottini, Nunzio; Musumeci, Lucia; Alonso, Andres et al.
2004In Nature Genetics, 36 (4), p. 337-8
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Keywords :
Diabetes Mellitus, Type 1/enzymology/genetics; Genetic Markers; Humans; Polymorphism, Single Nucleotide; Protein Tyrosine Phosphatase, Non-Receptor Type 1; Protein Tyrosine Phosphatases/genetics/metabolism
Abstract :
[en] 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.
Disciplines :
Biochemistry, biophysics & molecular biology
Immunology & infectious disease
Author, co-author :
Bottini, Nunzio
Musumeci, Lucia ;  Université de Liège - ULiège > GIGA-Research
Alonso, Andres
Rahmouni, Souad  ;  Université de Liège - ULiège > Département des sciences cliniques > Immunopathologie - Transplantation
Nika, Konstantina
Rostamkhani, Masoud
MacMurray, James
Meloni, Gian Franco
Lucarelli, Paola
Pellecchia, Maurizio
Eisenbarth, George S
Comings, David
Mustelin, Tomas
More authors (3 more) Less
Language :
English
Title :
A functional variant of lymphoid tyrosine phosphatase is associated with type I diabetes.
Publication date :
2004
Journal title :
Nature Genetics
ISSN :
1061-4036
eISSN :
1546-1718
Publisher :
Nature Publishing Group, New York, United States - New York
Volume :
36
Issue :
4
Pages :
337-8
Peer reviewed :
Peer Reviewed verified by ORBi
Available on ORBi :
since 27 January 2009

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