Structural and phylogenetic approaches to assess the significance of human Apolipoprotein E variation
| Autor: | Giuseppe Moretto, G. Gambina, Vincent Raussens, Rosa Maria Corbo, Martine Prévost, Renato Scacchi |
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| Rok vydání: | 2006 |
| Předmět: |
Apolipoprotein E
Endocrinology Diabetes and Metabolism Molecular Sequence Data Disease Biology Nucleic Acid Denaturation medicine.disease_cause Biochemistry Apolipoproteins E Endocrinology Polymorphism (computer science) Genetics medicine Humans Amino Acid Sequence Allele Molecular Biology Gene Chromatography High Pressure Liquid Phylogeny Mutation Polymorphism Genetic Phylogenetic tree Isoelectric focusing Exons Sequence Alignment |
| Zdroj: | Molecular genetics and metabolism 89 (2006): 261–269. doi:10.1016/j.ymgme.2006.02.015 info:cnr-pdr/source/autori:Corbo RM; Prevost M; Raussens V; Gambina G; Moretto G; Scacchi R/titolo:Structural and phylogenetic approaches to assess the significance of human Apolipoprotein E variation./doi:10.1016%2Fj.ymgme.2006.02.015/rivista:Molecular genetics and metabolism (Print)/anno:2006/pagina_da:261/pagina_a:269/intervallo_pagine:261–269/volume:89 |
| ISSN: | 1096-7192 |
| Popis: | 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. (c) 2006 Elsevier Inc. All rights reserved. |
| Databáze: | OpenAIRE |
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