| Literature DB >> 32387331 |
Natalia N Singh1, Eric W Ottesen1, Ravindra N Singh2.
Abstract
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.Entities:
Keywords: Alu elements; Backsplicing; Long noncoding RNA and microRNA; Spinal muscular atrophy, SMA; Survival motor neuron, SMN; circRNA
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Year: 2020 PMID: 32387331 PMCID: PMC7302838 DOI: 10.1016/j.bbagrm.2020.194562
Source DB: PubMed Journal: Biochim Biophys Acta Gene Regul Mech ISSN: 1874-9399 Impact factor: 4.490