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A survey of transcripts generated by spinal muscular atrophy genes.

Authors :
Singh NN
Ottesen EW
Singh RN
Source :
Biochimica et biophysica acta. Gene regulatory mechanisms [Biochim Biophys Acta Gene Regul Mech] 2020 Aug; Vol. 1863 (8), pp. 194562. Date of Electronic Publication: 2020 May 06.
Publication Year :
2020

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.<br />Competing Interests: Declaration of competing interest ISS-N1 target (US patent # 7,838,657) mentioned in this review was discovered in the Singh lab at UMASS Medical School (Worcester, MA, USA). Inventors, including RNS, NNS and UMASS Medical School, are currently benefiting from licensing of ISS-N1 target (US patent # 7,838,657) to IONIS Pharmaceuticals/Biogen, which is marketing Spinrazaâ„¢ (Nusinersen), the FDA-approved drug, based on ISS-N1 target. RNS and NNS are founders of RNACorrect, Inc., an Iowa-based small business engaged in research and development.<br /> (Copyright © 2020 Elsevier B.V. All rights reserved.)

Details

Language :
English
ISSN :
1876-4320
Volume :
1863
Issue :
8
Database :
MEDLINE
Journal :
Biochimica et biophysica acta. Gene regulatory mechanisms
Publication Type :
Academic Journal
Accession number :
32387331
Full Text :
https://doi.org/10.1016/j.bbagrm.2020.194562