title: The missing ApoE allele.
abstract: The human apoE gene (APOE, GenBank accession AF261279) shows a common polymorphism, with the three epsilon2, epsilon3 and epsilon4 alleles resulting from the haplotypes of two C-->T SNPs. However, whereas the three common T-T, T-C and C-C haplotypes corresponding to the epsilon2, epsilon3 and epsilon4 alleles are well known, the last C-T haplotype (GenBank accession AY077451), encoding a fourth apoE allele, has rarely been reported. We detected this fourth allele in a Caucasian patient with motor neuron disease (MND). According to the literature we refer to this allele as epsilon3r. Although several explanations may be proposed for its formation, the existence of this fourth allele is consistent with the evolutionary hypothesis generally accepted for the apoE alleles. The rarity and physiological role of epsilon3r remains to be explained, and requires further investigation.
authors.affiliation: Laboratory of Geriatrics and Gerontology, Department of Research, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo (FG), Italy.
authors.forename: D
authors.initials: D
authors.lastname: Seripa
authors.forename: M G
authors.initials: MG
authors.lastname: Matera
authors.forename: A
authors.initials: A
authors.lastname: Daniele
authors.forename: A
authors.initials: A
authors.lastname: Bizzarro
authors.forename: M
authors.initials: M
authors.lastname: Rinaldi
authors.forename: C
authors.initials: C
authors.lastname: Gravina
authors.forename: L
authors.initials: L
authors.lastname: Bisceglia
authors.forename: R M
authors.initials: RM
authors.lastname: Corbo
authors.forename: F
authors.initials: F
authors.lastname: Panza
authors.forename: V
authors.initials: V
authors.lastname: Solfrizzi
authors.forename: V M
authors.initials: VM
authors.lastname: Fazio
authors.forename: G Dal
authors.initials: GD
authors.lastname: Forno
authors.forename: C
authors.initials: C
authors.lastname: Masullo
authors.forename: B
authors.initials: B
authors.lastname: Dallapiccola
authors.forename: A
authors.initials: A
authors.lastname: Pilotto
mesh_terms: D000368:Aged; D000483:Alleles; D053329:Apolipoprotein E2 / Q000235:genetics; D053318:Apolipoprotein E3 / Q000235:genetics; D053327:Apolipoprotein E4 / Q000235:genetics; D001057:Apolipoproteins E / Q000235:genetics*; D005838:Genotype; D006801:Humans; D008297:Male; D016472:Motor Neuron Disease / Q000209:etiology / Q000235:genetics*; D017422:Sequence Analysis, DNA
chemical_list: D053329:Apolipoprotein E2; D053318:Apolipoprotein E3; D053327:Apolipoprotein E4; D001057:Apolipoproteins E