How to compensate for loss of gene function? Think alternative splicing
Living organisms have a knack for persisting in the face of challenges. For instance, when genes malfunction, organisms may be able to compensate by activating redundant genes with similar functions, called paralogs.
One example of such compensation are two genes of the muscleblind-like (MBNL) family of RNA-binding proteins that lose their function in Myotonic Dystrophy Type 1, the most common cause of adult-onset muscular dystrophy. Loss of MBNL1 increases the levels of its paralog MBNL2 in tissues where protein expression is low, allowing MBNL2 to functionally compensate for MBNL1 loss. In animal models, loss of one paralog results in ...











