title: Structural and phylogenetic approaches to assess the significance of human Apolipoprotein E variation.
abstract: Apolipoprotein E (APOE) is an important gene whose common polymorphism, and precisely the e *4 allele, has been reportedly associated with some disorders, including Alzheimer's disease (AD) and coronary artery disease. In the course of previous surveys on AD patients and healthy individuals some rare variants were detected by means of Isoelectric focusing and denaturing high-performance liquid chromatography techniques. After a mutation in a gene is identified, the problem arises to understand its effective significance. Structure modelling and phylogenetic analysis methods are widely used to establish the possible deleterious effect of mutations. In this study their usefulness in the analysis of APOE variants was evaluated. The two combined methods provided helpful indications for distinguishing between mutations possibly involved in AD susceptibility and not deleterious mutations.
authors.affiliation: Department of Genetics and Molecular Biology, University La Sapienza, Rome, Italy.
authors.forename: Rosa Maria
authors.initials: RM
authors.lastname: Corbo
authors.forename: Martine
authors.initials: M
authors.lastname: Prévost
authors.forename: Vincent
authors.initials: V
authors.lastname: Raussens
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Gambina
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Moretto
authors.forename: Renato
authors.initials: R
authors.lastname: Scacchi
mesh_terms: D000595:Amino Acid Sequence; D001057:Apolipoproteins E / Q000737:chemistry* / Q000235:genetics*; D002851:Chromatography, High Pressure Liquid; D005091:Exons / Q000235:genetics; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics; D009691:Nucleic Acid Denaturation; D010802:Phylogeny; D011110:Polymorphism, Genetic; D016415:Sequence Alignment
chemical_list: D001057:Apolipoproteins E