biostudies-literatureGao XMinistry of Science and Technology of the People’s Republic of ChinaNational Natural Science Foundation of ChinaNINDS NIH HHSNational Institutes of HealthHartwell FoundationNIH HHS410https://www.ebi.ac.uk/biostudies/studies/S-EPMC6509145biostudies-literatureUnknown10Spinal muscular atrophy (SMA) is a severe motor neuron degenerative disease caused by loss-of-function mutations in the survival motor neuron gene <i>SMN1</i>. It is widely posited that defective gene expression underlies SMA. However, the identities of these affected genes remain to be elucidated. By analyzing the transcriptome of a <i>Caenorhabditis elegans</i> SMA model at the pre-symptomatic stage, we found that the expression of numerous nuclear encoded mitochondrial genes and vacuolar H⁺-ATPase genes was significantly down-regulated, while that of histone genes was significantly up-regulated. We previously showed that the <i>uaf-1</i> gene, encoding key splicing factor U2AF large subunit, could affect the behavior and lifespan of <i>smn-1</i> mutants. Here, we found that <Frontiers in geneticsDefective Expression of Mitochondrial, Vacuolar H⁺-ATPase and Histone Genes in a <i>C. elegans</i> Model of SMA.PMC6509145R01 NS09456431371253R01NS094564R21NS106307P40 OD01044031571045R21 NS106307Pan WXue DMa LZhou CGao XChen HXu JMa YCfalseDefective Expression of Mitochondrial, Vacuolar H⁺-ATPase and Histone Genes in a <i>C. elegans</i> Model of SMA.Spinal muscular atrophy (SMA) is a severe motor neuron degenerative disease caused by loss-of-function mutations in the survival motor neuron gene <i>SMN1</i>. It is widely posited that defective gene expression underlies SMA. However, the identities of these affected genes remain to be elucidated. By analyzing the transcriptome of a <i>Caenorhabditis elegans</i> SMA model at the pre-symptomatic stage, we found that the expression of numerous nuclear encoded mitochondrial genes and vacuolar H⁺-ATPase genes was significantly down-regulated, while that of histone genes was significantly up-regulated. We previously showed that the <i>uaf-1</i> gene, encoding key splicing factor U2AF large subunit, could affect the behavior and lifespan of <i>smn-1</i> mutants. Here, we found that <2019-01-01T00:00:00Z20192025-04-04T21:39:55.334Z2019-06-06T23:29:29ZS-EPMC65091453113098710.3389/fgene.2019.00410