Defective expression of mitochondrial, vacuolar H+-ATPase and histone genes in a C. Elegans Model of SMA

Xiaoyang Gao, Jing Xu, Hao Chen, Dingwu Xue, Wenju Pan, Chuanman Zhou, Yongchao C. Ma*, Long Ma

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

3 Scopus citations


Spinal muscular atrophy (SMA) is a severe motor neuron degenerative disease caused by loss-of-function mutations in the survival motor neuron gene SMN1. 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 Caenorhabditis elegans 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 uaf-1 gene, encoding key splicing factor U2AF large subunit, could affect the behavior and lifespan of smn-1 mutants. Here, we found that smn-1 and uaf-1 interact to affect the recognition of 3′ and 5′ splice sites in a gene-specific manner. Altogether, our results suggest a functional interaction between smn-1 and uaf-1 in affecting RNA splicing and a potential effect of smn-1 on the expression of mitochondrial and histone genes.

Original languageEnglish (US)
Article number410
JournalFrontiers in Genetics
Issue numberMAY
StatePublished - 2019


  • C. elegans
  • Histone
  • Mitochondria
  • SMN
  • Vacuolar H-ATPase

ASJC Scopus subject areas

  • Molecular Medicine
  • Genetics
  • Genetics(clinical)


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