Human Genetics: From mechanisms to therapy: RNA processing’s impact on human genetics

Authors
Luiz O Penalva, Jeremy R Sanford
Protein-coding genes defy the one gene-one enzyme paradigm, in part, through the process of alternative pre-mRNA splicing. This mode of gene regulation is critical for generating protein isoforms with specific functions in development and homeostasis (Kalsotra and Cooper 2011). Alternative pre-mRNA processing not only expands the protein-coding capacity of our genes but also influences the regulation of downstream mRNA processing events such as translation, mRNA decay, and transport in unexpected ways (Hachet and Ephrussi 2004; Sanford et al. 2004; Lareau et al. 2007; Ni et al. 2007; Wang et al. 2012; Sterne-Weiler et al. 2013; Floor and Doudna 2016; Taliaferro et al. 2016). These highly integrated steps in the post-transcriptional gene are governed in part, through the interplay of trans-acting RNA binding proteins with a diverse array of cis-regulatory elements scattered throughout the pre-mRNA (Fu and …
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