Analysis of apolipoprotein E7 (apolipoprotein E-Suita) gene from a patient with hyperlipoproteinemia

J Biochem. 1989 Feb;105(2):249-53. doi: 10.1093/oxfordjournals.jbchem.a122648.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Apolipoprotein E3
  • Apolipoproteins E / genetics*
  • Base Sequence
  • Blotting, Southern
  • Cloning, Molecular
  • DNA / analysis
  • Humans
  • Hyperlipoproteinemias / genetics*
  • Mutation
  • RNA / analysis
  • RNA, Messenger / analysis
  • Transcription, Genetic

Substances

  • Apolipoprotein E3
  • Apolipoproteins E
  • RNA, Messenger
  • apolipoprotein E7, human
  • RNA
  • DNA