Abstract
Emerging studies support that RNA-binding proteins (RBPs) play critical roles in human biology and pathogenesis. RBPs are essential players in RNA processing and metabolism, including pre-mRNA splicing, polyadenylation, transport, surveillance, mRNA localization, mRNA stability control, translational control and editing of various types of RNAs. Aberrant expression of and mutations in RBP genes affect various steps of RNA processing, altering target gene function. RBPs have been associated with various diseases, including neurological diseases. Here, we mainly focus on selected RNA-binding proteins including Nova-1/Nova-2, HuR/HuB/HuC/HuD, TDP-43, Fus, Rbfox1/Rbfox2, QKI and FMRP, discussing their function and roles in human diseases.
Highlights
Emerging studies support that RNA-binding proteins (RBPs) play critical roles in human biology and pathogenesis
It has become increasingly clear that RBPs are important players in neurodegenerative disorders and other human diseases
The advent of high-throughput technologies, bioinformatics analysis, genetic mouse models and biochemical approaches significantly advanced our understanding of the involvement of RBPs in human diseases
Summary
The life of an mRNA begins in the nucleus, when a gene is transcribed by RNA polymerase II to produce its pre-mRNA transcript(s) [8]. While the RNA is being transcribed by the RNA polymerase complex, the intervening sequences (introns) are removed from the pre-mRNA transcript, a process known as “pre-mRNA splicing”, by the multi-component splicing machinery called the spliceosome. The coordinated 5′-capping, pre-mRNA splicing and 3′-polyadenylation processes act to produce a mature mRNA ready for transport to the cytoplasm for translation. Throughout its life, the mRNA is associated with a host of RBPs, many of which act in more than one aspect of post-transcriptional gene regulation. Such intimate association between mRNAs and RBPs contributes to the complex temporal and spatial regulation of eukaryotic gene expression. We will use a few examples of neuronally expressed RBPs to illustrate the importance of RBPs in human diseases
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