[Splice site mutations and atherosclerosis: mechanisms and prediction models].
Copyright policy )[Splice site mutations and atherosclerosis: mechanisms and prediction models].
Nucleotide variants in genes of the lipid metabolism influence the risk of premature atherosclerosis. Ten percent of all single nucleotide substitutions in these genes involve splice sites. The effects of these changes on mRNA splicing and phenotypic severity, however, are not inherently obvious from the nucleotide sequence. This review presents various genes of lipid metabolism with splicing mutations known to influence the risk of premature atherosclerosis. Mechanisms of pre-mRNA splicing are illustrated and different models for prediction of the effect of nucleotide substitutions on splice-site function are presented. The role of information theory-based models is emphasized along with its role for prediction of splice-site function and phenotypic severity of atherosclerosis.
- Universität Hamburg Germany
Male, Models, Genetic, Arteriosclerosis, Age Factors, Information Theory, Hyperlipidemias, Exons, Middle Aged, Prognosis, Lipids, Hyperlipoproteinemia Type II, Alternative Splicing, Phenotype, Mutation, RNA Precursors, Animals, Humans, RNA, Drosophila, Female
Male, Models, Genetic, Arteriosclerosis, Age Factors, Information Theory, Hyperlipidemias, Exons, Middle Aged, Prognosis, Lipids, Hyperlipoproteinemia Type II, Alternative Splicing, Phenotype, Mutation, RNA Precursors, Animals, Humans, RNA, Drosophila, Female
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