Subcellular localization of Fukuyama congenital muscular dystrophy and muscle-eye-brain disease's gene products
- VernacularTitle:福山型先天性肌营养不良和肌-眼-脑病的基因产物在细胞内的定位
- Publication Type:Journal Article
- Keywords: Muscular dystrophies; Proteins; N-Acetylglucosaminyltransferases
- From: Chinese Journal of Neurology 2005;0(09):-
- CountryChina
- Language:Chinese
- Abstract: Objective To observe the subcellular localization of Fukuyama congenital muscular dystrophy(FCMD)and muscle-eye-brain disease(MEB)' s gene products.Methods Expression vectors encoding epitope-tagged POMGnT1-V5(pEF1),full-length wild type fukutin-Flag,mutant fukutin Y371 C- Flag(pcDNA),and fukutin transmembrane domain(TMR)and the transmembrane domain deletion(TMR del)as GFP fusion protein(pEGFP)were constructed.Mouse myoblast cell line C2C12 cells were transfected at 40%—70%confluence.Cells were incubated with anti-Flag IgG,anti-V5 IgG,anti-GM 130 IgG(Golgi marker)and anti-KDEL IgG(endoplasmic reticulum marker).Results Fukutin localized inside the Golgi apparatus in C2C12 ceils and co-localized with POMGnT1.The transmembrane domain of fukutin mediated its localization to the Golgi apparatus and participated the interaction with POMGnT1. Y371C localized in the endoplasmic reticulum instead of the Golgi.Conclusions FCMD and MEB are characterized by hypoglycosylated ?-dystroglycan(?-DG).POMGnT1 is known to possess intrinsic glycosyltransferase activity.They co-localizes in the Golgi apparatus suggesting that there is some relationship between fukutin and POMGnT1.They probably produce proteins that participate the same enzymatic pathway,ultimately resulting in the transfer of sugars to ?-DG.Y371C mutation causing mis-location of fukutin in Golgi.