A survey of transcripts generated by spinal muscular atrophy genes

• Published in: Biochimica et biophysica acta. Gene regulatory mechanisms 2020-08, Vol.1863 (8), p.194562-194562, Article 194562
• Main Authors: Singh, Natalia N., Ottesen, Eric W., Singh, Ravindra N.
• Format: Article
• Language: English
• Subjects: Alu Elements; Animals; Backsplicing; circRNA; Humans; Long noncoding RNA and microRNA; MicroRNAs; Muscular Atrophy, Spinal - genetics; Muscular Atrophy, Spinal - metabolism; RNA, Circular; RNA, Long Noncoding - metabolism; SMN Complex Proteins - genetics; SMN Complex Proteins - metabolism; Spinal muscular atrophy, SMA; Survival motor neuron, SMN
• ISSN: 1874-9399; 1876-4320
• DOI: 10.1016/j.bbagrm.2020.194562

Human Survival Motor Neuron (SMN) genes code for SMN, an essential multifunctional protein. Complete loss of SMN is embryonic lethal, while low levels of SMN lead to spinal muscular atrophy (SMA), a major genetic disease of children and infants. Reduced levels of SMN are associated with the abnormal development of heart, lung, muscle, gastro-intestinal system and testis. The SMN loci have been shown to generate a vast repertoire of transcripts, including linear, back- and trans-spliced RNAs as well as antisense long noncoding RNAs. However, functions of the majority of these transcripts remain unknown. Here we review the nature of RNAs generated from the SMN loci and discuss their potential functions in cellular metabolism. •Human SMN generates a vast repertoire of transcripts, including linear, circular, trans-spliced and antisense transcripts•Multiple transcription start sites, alternative and backward splicing combined with intergenic transcription create SMN transcript diversity•Several SMN circular RNAs harbor novel exons derived from intron 1 and the intergenic sequences•SMN transcripts may perform regulatory role by sponging microRNAs and sequestering proteins