Analysis of Apolipoprotein E7 (Apolipoprotein E-Suita) Gene from a Patient with Hyperlipoproteinemia1
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.
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rs140808909 (p.E262K) and rs190853081 (p.E263K) have been previously identified in Japanese patients with dyslipidemia and atherosclerosis and are defined as the APOE ε7 allele.
“Both variants have been previously identified in Japanese patients with dyslipidemia and atherosclerosis and is defined as the APOE ε7 allele.29–31”
From Association of rare <i>APOE</i> missense variants with Alzheimer's disease in the Japanese population (2025) · cites this paper as [31]
The ε7 allele has been linked to dyslipidemia and atherosclerosis.
“Notably, the ε7 allele has been linked to dyslipidemia and atherosclerosis,29–31 yet few studies have examined its binding to LDLR and heparin. 38”
From Association of rare <i>APOE</i> missense variants with Alzheimer's disease in the Japanese population (2025) · cites this paper as [31]
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Mailly, F., Xu, C., Xhignesse, M., Lussier-Cacan, S., Talmud, P., Davignon, J., Humphries, S., & Nestruck, A. (1991) · Journal of Lipid Research · doi:10.1016/s0022-2275(20)42048-6 · Cited by 36 · see citing works
Feussner, G., Scharnagl, H., Scherbaum, C., Acar, J., Dobmeyer, J., Lohrmann, J., Wieland, H., & März, W. (1996) · Journal of Lipid Research · doi:10.1016/s0022-2275(20)39106-9 · Cited by 21 · see citing works
Miyashita, A., Obinata, A., Hara, N., Mitsumori, R., Kaneda, D., Hashizume, Y., Sano, T., Takao, M., Gabdulkhaev, R., Tada, M., et al. (2025) · Journal of Alzheimer’s Disease · doi:10.1177/13872877251340710 · Cited by 5 · see citing works
Hypertriglyceridemia and pancreatitis in a patient with apolipoprotein E7 (p.[E244K; E245K])/E4
Arai, M., Nishimura, A., Mori, Y., Ebara, T., & Okubo, M. (2014) · Clinica Chimica Acta · doi:10.1016/j.cca.2014.06.001 · Cited by 2 · see citing works
- Authors
- Tajima, S., Yamamura, T., Menju, M., & Yamamoto, A.
- Affiliations
- National Cerebral and Cardiovascular Center (JP)
- ORCID
- Yamamoto, Akira
- Venue
- The Journal of Biochemistry
- Publisher
- Oxford University Press (OUP)
- Published
- 1989-02
- Volume
- 105
- Issue
- 2
- Pages
- 249-253
- ISSN
- 0021-924X (ISSN-L)
- 1756-2651
- OpenAlex
- W1020382305
- Cited by
- 44
- References
- 0
- Citations by year
- 2025: 2 · 2023: 1 · 2017: 1 · 2014: 2
- FWCI
- 9.02
- 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
- hyperlipoproteinemia, apolipoprotein E isoforms, gene cloning, exon-intron boundaries, amino acid substitutions, positive charge, retroviral gene expression
- MeSH terms
- Apolipoproteins E, Base Sequence, Cloning, Molecular, DNA, Humans, Hyperlipoproteinemias, Mutation, RNA, RNA, Messenger, Transcription, Genetic, Blotting, Southern, Apolipoprotein E3
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