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Activation of RNA metabolism-related genes in mouse but not human tissues deficient in SMN

Activation of RNA metabolism-related genes in mouse but not human tissues deficient in SMN Mutations of the survival of motor neuron gene ( SMN1) are responsible for spinal muscular atrophies (SMA), a frequent recessive autosomal motor neuron disease. SMN is involved in various processes including RNA metabolism. However, the molecular pathway linking marked deficiency of SMN to SMA phenotype remains unclear. Homozygous deletion of murine Smn exon 7 directed to neurons or skeletal muscle causes severe motor axonal or myofiber degeneration, respectively. With the use of cDNA microarrays, expression profiles of 8,400 genes were analyzed in skeletal muscle and spinal cord of muscular and neuronal mutants, respectively, and compared with age-matched controls. A high proportion of genes (20 of 429, 5%) was involved in pre-mRNA splicing, ribosomal RNA processing, or RNA decay, and 18 of them were upregulated in mutant tissues. By analyzing other neuromuscular disorders, we showed that most of them (14 of 18) were specific to the SMN defect. Quantitative PCR analysis of these transcripts showed that gene activation was an early adaptive response to the lack but not reduced amount of full-length SMN in mouse mutant tissues. In human SMA tissues, activation of this program was not observed, which could be ascribed to the reduction but not the absence of full-length SMN. survival motor neuron; gene expression profile; mouse models; human spinal muscular atrophy http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Physiological Genomics The American Physiological Society

Activation of RNA metabolism-related genes in mouse but not human tissues deficient in SMN

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References (29)

Publisher
The American Physiological Society
Copyright
Copyright © 2011 the American Physiological Society
ISSN
1094-8341
eISSN
1531-2267
DOI
10.1152/physiolgenomics.00134.2005
pmid
16118268
Publisher site
See Article on Publisher Site

Abstract

Mutations of the survival of motor neuron gene ( SMN1) are responsible for spinal muscular atrophies (SMA), a frequent recessive autosomal motor neuron disease. SMN is involved in various processes including RNA metabolism. However, the molecular pathway linking marked deficiency of SMN to SMA phenotype remains unclear. Homozygous deletion of murine Smn exon 7 directed to neurons or skeletal muscle causes severe motor axonal or myofiber degeneration, respectively. With the use of cDNA microarrays, expression profiles of 8,400 genes were analyzed in skeletal muscle and spinal cord of muscular and neuronal mutants, respectively, and compared with age-matched controls. A high proportion of genes (20 of 429, 5%) was involved in pre-mRNA splicing, ribosomal RNA processing, or RNA decay, and 18 of them were upregulated in mutant tissues. By analyzing other neuromuscular disorders, we showed that most of them (14 of 18) were specific to the SMN defect. Quantitative PCR analysis of these transcripts showed that gene activation was an early adaptive response to the lack but not reduced amount of full-length SMN in mouse mutant tissues. In human SMA tissues, activation of this program was not observed, which could be ascribed to the reduction but not the absence of full-length SMN. survival motor neuron; gene expression profile; mouse models; human spinal muscular atrophy

Journal

Physiological GenomicsThe American Physiological Society

Published: Jan 12, 2006

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