Subcellular localization of fukutin and fukutin-related protein in muscle cells.
Fukuyama-type congenital muscular dystrophy and congenital muscular dystrophy 1C are congenital muscular dystrophies that commonly display reduced levels of glycosylation of alpha-dystroglycan in skeletal muscle. The genes responsible for these disorders are fukutin and fukutin-related protein (FKRP), respectively. Both gene products are thought to be glycosyltransferases, but their functions have not been established. In this study, we determined their subcellular localizations in cultured skeletal myocytes. FKRP localizes in rough endoplasmic reticulum, while fukutin localizes in the cis-Golgi compartment. FKRP was also localized in rough endoplasmic reticulum in skeletal muscle biopsy sample. Our data suggest that fukutin and FKRP may be involved at different steps in O-mannosylglycan synthesis of alpha-dystroglycan, and FKRP is most likely involved in the initial step in this synthesis.
Matsumoto
Hiroshi
H
Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo 187-8502, Japan.
Noguchi
Satoru
S
Sugie
Kazuma
K
Ogawa
Megumu
M
Murayama
Kumiko
K
Hayashi
Yukiko K
YK
Nishino
Ichizo
I
D000328:Adult; D001706:Biopsy; D002478:Cells, Cultured; D049030:Dystroglycans / Q000378:metabolism; D018870:Endoplasmic Reticulum, Rough / Q000378:metabolism / Q000648:ultrastructure; D006056:Golgi Apparatus / Q000378:metabolism / Q000648:ultrastructure; D006801:Humans; D008297:Male; D008565:Membrane Proteins; D032342:Muscle Cells / Q000166:cytology* / Q000378:metabolism*; D018482:Muscle, Skeletal / Q000737:chemistry / Q000166:cytology / Q000378:metabolism*; D009136:Muscular Dystrophies / Q000235:genetics / Q000378:metabolism; D010430:Pentosyltransferases; D011506:Proteins / Q000235:genetics / Q000378:metabolism*
C483081:DAG1 protein, human; C113587:FKTN protein, human; D008565:Membrane Proteins; D011506:Proteins; D049030:Dystroglycans; C443107:FKRP protein, human; D010430:Pentosyltransferases