Sequence variations affecting AU-rich element function and disease.
Adenylate-uridylate rich elements (AREs) in the 3'UTRs of many transiently expressed genes regulate mRNA instability and translation. Such ARE-genes are involved in vital biological processes like cellular growth, differentiation, and immunity. Defects in their expression contribute to a variety of disease conditions like cancer, autoimmune diseases, diabetes, and cardiovascular and chronic inflammatory diseases. Over the past two decades, considerable progress has been made in understanding the mode of regulation of AREs containing mRNAs by RNA-binding proteins, miRNAs, and signaling pathways. This review focuses on the less documented sequence variation affecting ARE functions and its relation to disease. We discuss reports describing genetic polymorphisms, alternative polyadenylation, and alternative splicing that can lead to the loss or gain of function of AREs, often with significant implications to disease.
BioMolecular Research Program, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Edward
E
Hitti
Khalid S A
KS
Khabar
D017398:Alternative Splicing; D000818:Animals; D004194:Disease / Q000235:genetics; D014644:Genetic Variation; D006801:Humans; D026723:Polyadenylation; D011110:Polymorphism, Genetic