Modulating role of RNA structure in alternative splicing of a critical exon in the spinal muscular atrophy genes
By Natalia N. Singh, PhD, Ravindra N. Singh, PhD, and Elliot J. Androphy, MD
From the Abstract: “Humans have two nearly identical copies of the survival motor neuron (SMN) gene, SMN1 and SMN2. Homozygous loss of SMN1 causes spinal muscular atrophy (SMA). SMN2 is unable to prevent the disease….Findings reveal for the first time the critical role of RNA structure in regulation of alternative splicing of human SMN.”
