Literature DB >> 32387331

A survey of transcripts generated by spinal muscular atrophy genes.

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.
Copyright © 2020 Elsevier B.V. All rights reserved.

Entities:  

Keywords:  Alu elements; Backsplicing; Long noncoding RNA and microRNA; Spinal muscular atrophy, SMA; Survival motor neuron, SMN; circRNA

Mesh:

Substances:

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


  132 in total

1.  Correlation between severity and SMN protein level in spinal muscular atrophy.

Authors:  S Lefebvre; P Burlet; Q Liu; S Bertrandy; O Clermont; A Munnich; G Dreyfuss; J Melki
Journal:  Nat Genet       Date:  1997-07       Impact factor: 38.330

Review 2.  Advances in therapeutic development for spinal muscular atrophy.

Authors:  Matthew D Howell; Natalia N Singh; Ravindra N Singh
Journal:  Future Med Chem       Date:  2014-06       Impact factor: 3.808

3.  A single administration of morpholino antisense oligomer rescues spinal muscular atrophy in mouse.

Authors:  Paul N Porensky; Chalermchai Mitrpant; Vicki L McGovern; Adam K Bevan; Kevin D Foust; Brain K Kaspar; Stephen D Wilton; Arthur H M Burghes
Journal:  Hum Mol Genet       Date:  2011-12-20       Impact factor: 6.150

4.  RNA structure generates natural cooperativity between single-stranded RNA binding proteins targeting 5' and 3'UTRs.

Authors:  Yi-Hsuan Lin; Ralf Bundschuh
Journal:  Nucleic Acids Res       Date:  2014-12-29       Impact factor: 16.971

5.  Spectrum of neuropathophysiology in spinal muscular atrophy type I.

Authors:  Brian N Harding; Shingo Kariya; Umrao R Monani; Wendy K Chung; Maryjane Benton; Sabrina W Yum; Gihan Tennekoon; Richard S Finkel
Journal:  J Neuropathol Exp Neurol       Date:  2015-01       Impact factor: 3.685

6.  A negative element in SMN2 exon 7 inhibits splicing in spinal muscular atrophy.

Authors:  Tsuyoshi Kashima; James L Manley
Journal:  Nat Genet       Date:  2003-08       Impact factor: 38.330

Review 7.  The multiple lives of NMD factors: balancing roles in gene and genome regulation.

Authors:  Olaf Isken; Lynne E Maquat
Journal:  Nat Rev Genet       Date:  2008-09       Impact factor: 53.242

8.  U1A regulates 3' processing of the survival motor neuron mRNA.

Authors:  Eileen Workman; Alex Veith; Daniel J Battle
Journal:  J Biol Chem       Date:  2013-12-20       Impact factor: 5.157

9.  CircInteractome: A web tool for exploring circular RNAs and their interacting proteins and microRNAs.

Authors:  Dawood B Dudekula; Amaresh C Panda; Ioannis Grammatikakis; Supriyo De; Kotb Abdelmohsen; Myriam Gorospe
Journal:  RNA Biol       Date:  2016       Impact factor: 4.652

10.  Activation of a cryptic 5' splice site reverses the impact of pathogenic splice site mutations in the spinal muscular atrophy gene.

Authors:  Natalia N Singh; José Bruno Del Rio-Malewski; Diou Luo; Eric W Ottesen; Matthew D Howell; Ravindra N Singh
Journal:  Nucleic Acids Res       Date:  2017-12-01       Impact factor: 16.971

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  7 in total

Review 1.  Characteristics of circular RNAs generated by human Survival Motor Neuron genes.

Authors:  Eric W Ottesen; Ravindra N Singh
Journal:  Cell Signal       Date:  2020-06-15       Impact factor: 4.315

2.  Revealing diverse alternative splicing variants of the highly homologous SMN1 and SMN2 genes by targeted long-read sequencing.

Authors:  Mengyao Dai; Yan Xu; Yu Sun; Bing Xiao; Xiaomin Ying; Yu Liu; Wenting Jiang; Jingmin Zhang; Xiaoqing Liu; Xing Ji
Journal:  Mol Genet Genomics       Date:  2022-05-25       Impact factor: 2.980

3.  Comprehensive In Silico Analysis of Retrotransposon Insertions within the Survival Motor Neuron Genes Involved in Spinal Muscular Atrophy.

Authors:  Albano Pinto; Catarina Cunha; Raquel Chaves; Matthew E R Butchbach; Filomena Adega
Journal:  Biology (Basel)       Date:  2022-05-27

Review 4.  RNA in spinal muscular atrophy: therapeutic implications of targeting.

Authors:  Ravindra N Singh; Joonbae Seo; Natalia N Singh
Journal:  Expert Opin Ther Targets       Date:  2020-06-25       Impact factor: 6.902

Review 5.  Spinal muscular atrophy: Broad disease spectrum and sex-specific phenotypes.

Authors:  Natalia N Singh; Shaine Hoffman; Prabhakara P Reddi; Ravindra N Singh
Journal:  Biochim Biophys Acta Mol Basis Dis       Date:  2021-01-05       Impact factor: 5.187

Review 6.  The First Orally Deliverable Small Molecule for the Treatment of Spinal Muscular Atrophy.

Authors:  Ravindra N Singh; Eric W Ottesen; Natalia N Singh
Journal:  Neurosci Insights       Date:  2020-11-23

7.  Internal Introns Promote Backsplicing to Generate Circular RNAs from Spinal Muscular Atrophy Gene.

Authors:  Diou Luo; Natalia Nikolaevna Singh; Ravindra Narayan Singh
Journal:  Genes (Basel)       Date:  2022-06-25       Impact factor: 4.141

  7 in total

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