The missing ApoE allele

D. Seripa; M. G. Matera; Antonio Daniele; A. Bizzarro; M. Rinaldi; C. Gravina; L. Bisceglia; R. M. Corbo; F. Panza; V. Solfrizzi; V. M. Fazio; G. D. Forno; C. Masullo; B. Dallapiccola; A. Pilotto

doi:10.1111/j.1469-1809.2006.00344.x

The missing ApoE allele

D. Seripa^*
, M. G. Matera
, Antonio Daniele
, A. Bizzarro
, M. Rinaldi
, C. Gravina
, L. Bisceglia
, R. M. Corbo
, F. Panza
, V. Solfrizzi
, V. M. Fazio
, G. D. Forno
, C. Masullo
, B. Dallapiccola
, A. Pilotto

^*Corresponding author

IRCCS Ospedale Casa Sollievo della Sofferenza - San Giovanni Rotondo (FG)
Institute for Polymers
University of Rome La Sapienza
University of Bari
Universita Campus Bio-Medico di Roma

Research output: Contribution to journal › Article

15 Citations (Scopus)

Abstract

The human apoE gene (APOE, GenBank accession AF261279) shows a common polymorphism, with the three ε2, ε3 and ε4 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 ε2, ε3 and ε4 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 ε3r. 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 ε3r remains to be explained, and requires further investigation. © 2007 The Authors Journal compilation © 2007 University College London.

Original language	English
Pages (from-to)	496-500
Number of pages	5
Journal	Annals of Human Genetics
Volume	71
Issue number	4
DOIs	https://doi.org/10.1111/j.1469-1809.2006.00344.x
Publication status	Published - 2007

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being

All Science Journal Classification (ASJC) codes

Genetics
Genetics(clinical)

Keywords

Aged
Allele
Alleles
Apolipoprotein E2
Apolipoprotein E3
Apolipoprotein E4
Apolipoproteins E
DNA
Genotype
Haplotype
Humans
Male
Motor Neuron Disease
Sequence Analysis
apoE
apoE1
apoE3r
y

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10.1111/j.1469-1809.2006.00344.x

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title = "The missing ApoE allele",

abstract = "The human apoE gene (APOE, GenBank accession AF261279) shows a common polymorphism, with the three ε2, ε3 and ε4 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 ε2, ε3 and ε4 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 ε3r. 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 ε3r remains to be explained, and requires further investigation. {\textcopyright} 2007 The Authors Journal compilation {\textcopyright} 2007 University College London.",

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author = "D. Seripa and Matera, \{M. G.\} and Antonio Daniele and A. Bizzarro and M. Rinaldi and C. Gravina and L. Bisceglia and Corbo, \{R. M.\} and F. Panza and V. Solfrizzi and Fazio, \{V. M.\} and Forno, \{G. D.\} and C. Masullo and B. Dallapiccola and A. Pilotto",

year = "2007",

doi = "10.1111/j.1469-1809.2006.00344.x",

language = "English",

volume = "71",

pages = "496--500",

journal = "Annals of Human Genetics",

issn = "0003-4800",

publisher = "Wiley-Blackwell Publishing Ltd",

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TY - JOUR

T1 - The missing ApoE allele

AU - Seripa, D.

AU - Matera, M. G.

AU - Daniele, Antonio

AU - Bizzarro, A.

AU - Rinaldi, M.

AU - Gravina, C.

AU - Bisceglia, L.

AU - Corbo, R. M.

AU - Panza, F.

AU - Solfrizzi, V.

AU - Fazio, V. M.

AU - Forno, G. D.

AU - Masullo, C.

AU - Dallapiccola, B.

AU - Pilotto, A.

PY - 2007

Y1 - 2007

N2 - The human apoE gene (APOE, GenBank accession AF261279) shows a common polymorphism, with the three ε2, ε3 and ε4 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 ε2, ε3 and ε4 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 ε3r. 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 ε3r remains to be explained, and requires further investigation. © 2007 The Authors Journal compilation © 2007 University College London.

AB - The human apoE gene (APOE, GenBank accession AF261279) shows a common polymorphism, with the three ε2, ε3 and ε4 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 ε2, ε3 and ε4 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 ε3r. 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 ε3r remains to be explained, and requires further investigation. © 2007 The Authors Journal compilation © 2007 University College London.

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KW - Allele

KW - Alleles

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KW - Apolipoprotein E3

KW - Apolipoprotein E4

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KW - Genotype

KW - Haplotype

KW - Humans

KW - Male

KW - Motor Neuron Disease

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UR - https://publicatt.unicatt.it/handle/10807/139723

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U2 - 10.1111/j.1469-1809.2006.00344.x

DO - 10.1111/j.1469-1809.2006.00344.x

M3 - Article

SN - 0003-4800

VL - 71

SP - 496

EP - 500

JO - Annals of Human Genetics

JF - Annals of Human Genetics

IS - 4

ER -

The missing ApoE allele

Abstract

UN SDGs

All Science Journal Classification (ASJC) codes

Keywords

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