期刊
BIOCHIMICA ET BIOPHYSICA ACTA-GENE REGULATORY MECHANISMS
卷 1863, 期 8, 页码 -出版社
ELSEVIER
DOI: 10.1016/j.bbagrm.2020.194562
关键词
Spinal muscular atrophy; SMA; Survival motor neuron; SMN; Backsplicing; circRNA; Alu elements; Long noncoding RNA and microRNA
资金
- National Institutes of Health [R01 NS055925]
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.
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