A functional variant of lymphoid tyrosine phosphatase is associated with type I diabetes.
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.
Bottini
Nunzio
N
Program of Signal Transduction, Cancer Research Center, The Burnham Institute, 10901 North Torrey Pines Road, La Jolla, California 92037, USA.
Musumeci
Lucia
L
Alonso
Andres
A
Rahmouni
Souad
S
Nika
Konstantina
K
Rostamkhani
Masoud
M
MacMurray
James
J
Meloni
Gian Franco
GF
Lucarelli
Paola
P
Pellecchia
Maurizio
M
Eisenbarth
George S
GS
Comings
David
D
Mustelin
Tomas
T
D003922:Diabetes Mellitus, Type 1 / Q000201:enzymology / Q000235:genetics*; D005819:Genetic Markers; D006801:Humans; D020641:Polymorphism, Single Nucleotide; D054562:Protein Tyrosine Phosphatase, Non-Receptor Type 1; D017027:Protein Tyrosine Phosphatases / Q000235:genetics / Q000378:metabolism*
D005819:Genetic Markers; D054562:Protein Tyrosine Phosphatase, Non-Receptor Type 1; D017027:Protein Tyrosine Phosphatases