title: Analysis of apolipoprotein E5 gene from a patient with hyperlipoproteinemia.
abstract: We have isolated and analyzed apolipoprotein E5 gene from a patient with hyperlipoproteinemia. Apolipoprotein E5 is a variant of apolipoprotein E with two additional units of positive charge and smaller apparent molecular weight than apolipoprotein E3, which is the major isoform of apolipoprotein E. The heterozygous gene of apolipoprotein E5/3 from the patient was cloned into lambda phage. The cloned apolipoprotein E genes were subcloned into a murine retrovirus shuttle vector and were expressed. One out of four clones expressed apolipoprotein E5. The analysis of the nucleotide sequence of the exons and exon-intron boundary regions has shown a G to A substitution in the 18th nucleotide from the 5'-end of the third exon. This single base substitution changes the amino acid residue Glu to Lys at the third position from the amino-terminus of the mature protein, and gives two additional units of positive charge to the molecule.
authors.affiliation: Department of Etiology and Pathophysiology, National Cardiovascular Center Research Institute, Osaka, Japan.
authors.forename: S
authors.initials: S
authors.lastname: Tajima
authors.forename: T
authors.initials: T
authors.lastname: Yamamura
authors.forename: A
authors.initials: A
authors.lastname: Yamamoto
mesh_terms: D001057:Apolipoproteins E / Q000235:genetics*; D001483:Base Sequence; D002478:Cells, Cultured; D003001:Cloning, Molecular; D004262:DNA Restriction Enzymes; D005796:Genes; D006801:Humans; D006951:Hyperlipoproteinemias / Q000235:genetics*; D008969:Molecular Sequence Data; D009000:Monocytes / Q000378:metabolism; D012016:Reference Values
chemical_list: D001057:Apolipoproteins E; C049578:apolipoprotein E5; D004262:DNA Restriction Enzymes