title: Analysis of apolipoprotein E7 (apolipoprotein E-Suita) gene from a patient with hyperlipoproteinemia.
abstract: We have isolated and analyzed apolipoprotein E7 gene from a patient with hyperlipoproteinemia. Apolipoprotein E7 (apolipoprotein E-Suita) is a variant of apolipoprotein E with four additional units of positive charge compared to apolipoprotein E3, which is the major isoform of apolipoprotein E. The heterozygous gene of apolipoprotein E7/3 from the patient was cloned into lambda phage. The cloned apolipoprotein E genes were subcloned into a murine retrovirus shuttle vector and were expressed. Two out of five clones expressed apolipoprotein E7. The analysis of the nucleotide sequence of the exon and exon-intron boundary regions has shown two G-to-A nucleotide substitutions in the 548 and 551 nucleotide positions from the 5'-end of the fourth exon. These two base substitutions change the amino acid residues -Glu-Glu- to -Lys-Lys- at the 244 and 245 positions from the amino-terminus of the mature protein, and give four additional units of positive charge to the molecule.
authors: Department of Etiology and Pathophysiology, National Cardiovascular Center Research Institute, Osaka.
authors: S
authors: S
authors: Tajima
authors: T
authors: T
authors: Yamamura
authors: M
authors: M
authors: Menju
authors: A
authors: A
authors: Yamamoto
mesh_terms: D053318:Apolipoprotein E3; D001057:Apolipoproteins E / Q000235:genetics*; D001483:Base Sequence; D015139:Blotting, Southern; D003001:Cloning, Molecular; D004247:DNA / Q000032:analysis; D006801:Humans; D006951:Hyperlipoproteinemias / Q000235:genetics*; D009154:Mutation; D012313:RNA / Q000032:analysis; D012333:RNA, Messenger / Q000032:analysis; D014158:Transcription, Genetic
chemical_list: D053318:Apolipoprotein E3; D001057:Apolipoproteins E; D012333:RNA, Messenger; C049579:apolipoprotein E7, human; D012313:RNA; D004247:DNA