Analysis of Apolipoprotein E5 Gene from a Patient with Hyperlipoproteinemia1

Tajima, Shoji; Yamamura, Taku; Yamamoto, Akira

doi:10.1093/oxfordjournals.jbchem.a122420

Cited by 42Lipoproteins and Cardiovascular HealthLipid metabolism and disordersCholesterol and Lipid Metabolism

Analysis of Apolipoprotein E5 Gene from a Patient with Hyperlipoproteinemia1

Tajima, Shoji, Yamamura, Taku, Yamamoto, Akira·1988·The Journal of Biochemistry

DOI 10.1093/oxfordjournals.jbchem.a122420

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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.

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Carriers of APOE5 (Glu3Lys), including a homozygote, have been shown to exhibit high lipoprotein levels without type III HLP.
“Carriers of APOE5 (Glu3Lys), including a homozygote, have been shown to exhibit high lipoprotein levels without type III HLP106, 107).”
From Impact of Apolipoprotein E Variants: A Review of Naturally Occurring Variants and Clinical Features (2025) · cites this paper as [106]
rs121918392 (p.E21K) was defined as the APOE ε5 allele.
“rs121918392 (p.E21K) was defined as the APOE ε5 allele29,32–34”
From Association of rare APOE missense variants with Alzheimer's disease in the Japanese population (2025) · cites this paper as [33]
rs121918392 (p.E21K) was also associated with dyslipidemia and atherosclerosis.
“rs121918392 (p.E21K) was also associated with dyslipidemia and atherosclerosis.29,32–34”
From Association of rare APOE missense variants with Alzheimer's disease in the Japanese population (2025) · cites this paper as [33]

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Authors: Tajima, S., Yamamura, T., & Yamamoto, A.
Affiliations: National Cerebral and Cardiovascular Center (JP)
ORCID: Yamamoto, Akira
Venue: The Journal of Biochemistry
Publisher: Oxford University Press (OUP)
Published: 1988-07
Volume: 104
Issue: 1
Pages: 48-52
ISSN: 0021-924X (ISSN-L)
1756-2651
DOI: 10.1093/oxfordjournals.jbchem.a122420
OpenAlex: W1935906703
Cited by: 42
References: 0
Citations by year: 2025: 2 · 2014: 1
FWCI: 7.41
Type: journal article
Language: en
Open access: closed
Locations: The Journal of Biochemistry (publishedVersion)
PubMed (publishedVersion)
Topics: Health Sciences › Medicine › Surgery › Lipoproteins and Cardiovascular Health
Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Lipid metabolism and disorders
Health Sciences › Medicine › Surgery › Cholesterol and Lipid Metabolism
Keywords: apolipoprotein E, hyperlipoproteinemia, gene cloning, single base substitution, exon-intron boundaries, amino acid substitutions, protein charge, heterozygous genotype, retroviral expression vector
MeSH terms: Apolipoproteins E, Base Sequence, Cells, Cultured, Cloning, Molecular, DNA Restriction Enzymes, Genes, Humans, Hyperlipoproteinemias, Molecular Sequence Data, Monocytes, Reference Values

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Analysis of Apolipoprotein E5 Gene from a Patient with Hyperlipoproteinemia1

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