STRUCTURE OF SERUM TRANSFERRIN IN CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME

被引:116
作者
WADA, Y
NISHIKAWA, A
OKAMOTO, N
INUI, K
TSUKAMOTO, H
OKADA, S
TANIGUCHI, N
机构
[1] RES INST MATERNAL & CHILD HLTH,IZUMI,OSAKA 59002,JAPAN
[2] OSAKA UNIV,DEPT BIOCHEM,SUITA,OSAKA 565,JAPAN
[3] OSAKA UNIV,DEPT PEDIAT,SUITA,OSAKA 565,JAPAN
关键词
D O I
10.1016/0006-291X(92)92278-6
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
The structure of the defective transferrin in carbohydrate-deficient glycoprotein syndrome was characterized. Structurally abnormal sugar chains were not found in reversed phase chromatograms of pyridylaminated derivatives from the transferrin of two patients in different families. Electrospray ionization mass spectrometry of the whole transferrin molecules revealed an abnormal species that was smaller than normal tetrasialotransferrin by 2,200 daltons, just the size of the disialylated biantennary sugar chain. These data indicated that the disialotransferrin specifically found in this syndrome is missing either of two N-linked sugar chains, suggesting a metabolic error in the early steps of protein glycosylation. © 1992.
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页码:832 / 836
页数:5
相关论文
共 14 条
[1]  
AJEKEN J, 1991, ACTA PAEDIATR SC S, V375, P6
[2]   A NEW PROCEDURE FOR THE DETERMINATION OF TRANSFERRINC (TFC) SUBTYPES BY ISOELECTRIC-FOCUSING - EXISTENCE OF 2 ADDITIONAL ALLELES, TFC4 AND TFC5 [J].
CONSTANS, J ;
KUHNL, P ;
VIAU, M ;
SPIELMANN, W .
HUMAN GENETICS, 1980, 55 (01) :111-114
[3]  
FUJII S, 1990, J BIOL CHEM, V265, P6009
[4]   REEXAMINATION OF THE PYRIDYLAMINATION USED FOR FLUORESCENCE LABELING OF OLIGOSACCHARIDES AND ITS APPLICATION TO GLYCOPROTEINS [J].
HASE, S ;
IBUKI, T ;
IKENAKA, T .
JOURNAL OF BIOCHEMISTRY, 1984, 95 (01) :197-203
[5]   SIALIC ACID-DEFICIENT SERUM AND CEREBROSPINAL-FLUID TRANSFERRIN IN A NEWLY RECOGNIZED GENETIC SYNDROME [J].
JAEKEN, J ;
VANEIJK, HG ;
VANDERHEUL, C ;
CORBEEL, L ;
EECKELS, R ;
EGGERMONT, E .
CLINICA CHIMICA ACTA, 1984, 144 (2-3) :245-247
[6]  
JAEKEN J, 1989, WENNER GREN INT S SE, V51, P69
[7]  
KINOSHITA N, 1991, CANCER RES, V51, P5888
[8]   IMPROVED METHOD FOR FLUORESCENCE LABELING OF SUGAR CHAINS WITH SIALIC-ACID RESIDUES [J].
KONDO, A ;
SUZUKI, J ;
KURAYA, N ;
HASE, S ;
KATO, I ;
IKENAKA, T .
AGRICULTURAL AND BIOLOGICAL CHEMISTRY, 1990, 54 (08) :2169-2170
[9]   DISIALOTRANSFERRIN DEVELOPMENTAL DEFICIENCY SYNDROME [J].
KRISTIANSSON, B ;
ANDERSSON, M ;
TONNBY, B ;
HAGBERG, B .
ARCHIVES OF DISEASE IN CHILDHOOD, 1989, 64 (01) :71-76
[10]   PEPTIDE AND PROTEIN-ANALYSIS BY ELECTROSPRAY IONIZATION MASS-SPECTROMETRY AND CAPILLARY ELECTROPHORESIS MASS-SPECTROMETRY [J].
LOO, JA ;
UDSETH, HR ;
SMITH, RD .
ANALYTICAL BIOCHEMISTRY, 1989, 179 (02) :404-412