Isolation and characterization of human apolipoprotein A-I Fukuoka (110 Glu----Lys). A novel apolipoprotein variant.
A novel genetic variant of apolipoprotein(apo) A-I Fukuoka, has been identified in a Japanese family. This variant has a relative charge of +2 compared to normal apolipoprotein A-I (A-I4), on the isoelectric focusing gels and the same molecular mass and immunologic characteristics as normal apolipoprotein A-I. This variant, transmitted as an autosomal co-dominant inheritance was purified by preparative Immobiline isoelectric focusing. Sequence analysis after cleavage with lysyl endopeptidase and CNBr, followed by high-performance liquid chromatography revealed a single substitution of lysine at position 110, instead of the usual glutamic acid. This mutant apolipoprotein A-I has much the same potential as to activate lecithin-cholesterol acyltransferase.
Takada
Y
Y
Department of Internal Medicine, Fukuoka University School of Medicine, Japan.
Sasaki
J
J
Ogata
S
S
Nakanishi
T
T
Ikehara
Y
Y
Arakawa
K
K
D000595:Amino Acid Sequence; D016632:Apolipoprotein A-I; D001054:Apolipoproteins A / Q000097:blood*; D001483:Base Sequence; D014644:Genetic Variation; D006801:Humans; D007525:Isoelectric Focusing; D008052:Lipid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000235:genetics; D008075:Lipoproteins, HDL / Q000097:blood*; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D010375:Pedigree; D010713:Phosphatidylcholines / Q000302:isolation & purification; D002785:Sterol O-Acyltransferase / Q000302:isolation & purification
D016632:Apolipoprotein A-I; D001054:Apolipoproteins A; D008075:Lipoproteins, HDL; D010713:Phosphatidylcholines; D002785:Sterol O-Acyltransferase