Structural and phylogenetic approaches to assess the significance of human Apolipoprotein E variation

Molecular Genetics and Metabolism
R M CorboR Scacchi

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.

References

May 11, 1991·Lancet·P R WenhamG Blandell
Jan 1, 1988·Arteriosclerosis : an Official Journal of the American Heart Association, Inc·J DavignonC F Sing
Feb 11, 1988·Nucleic Acids Research·S A MillerH F Polesky
Dec 5, 1993·Journal of Molecular Biology·A Sali, T L Blundell
Apr 11, 2001·Human Mutation·Z Wang, J Moult
Jan 17, 2002·Human Mutation·Andrew C R MartinJanet M Thornton
Aug 31, 2002·Nucleic Acids Research·Vasily RamenskyShamil Sunyaev
Jun 20, 2003·Human Mutation·M F Santibáñez KorefJ M Hancock
Sep 6, 2003·Trends in Genetics : TIG·Robert E StewardJanet M Thornton
Dec 9, 2003·Genome Biology·Inna Dubchak, Kelly Frazer
May 19, 2005·Clinical Chemistry and Laboratory Medicine : CCLM·Maura PoliDario Finazzi
Jan 18, 2006·Journal of Molecular Biology·Peng Yue, John Moult
Apr 30, 1998·The Journal of Physical Chemistry. B·A D MacKerellM Karplus

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Citations

Aug 16, 2008·Neurobiology of Aging·Chien-Hsiun ChenRaj N Kalaria
Sep 1, 2016·Dementia and Neurocognitive Disorders·Oh Dae Kwon
Jun 1, 2021·Atherosclerosis·Yara Abou KhalilMathilde Varret

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