A role for SMN exon 7 splicing in the selective vulnerability of motor neurons in spinal muscular atrophy

M Ruggiu, VL McGovern, F Lotti, L Saieva… - … and cellular biology, 2012 - Taylor & Francis
M Ruggiu, VL McGovern, F Lotti, L Saieva, DK Li, S Kariya, UR Monani, AHM Burghes
Molecular and cellular biology, 2012Taylor & Francis
Spinal muscular atrophy (SMA) is an inherited motor neuron disease caused by
homozygous loss of the Survival Motor Neuron 1 (SMN1) gene. In the absence of SMN1,
inefficient inclusion of exon 7 in transcripts from the nearly identical SMN2 gene results in
ubiquitous SMN decrease but selective motor neuron degeneration. Here we investigated
whether cell type-specific differences in the efficiency of exon 7 splicing contribute to the
vulnerability of SMA motor neurons. We show that normal motor neurons express markedly …
Spinal muscular atrophy (SMA) is an inherited motor neuron disease caused by homozygous loss of the Survival Motor Neuron 1 (SMN1) gene. In the absence of SMN1, inefficient inclusion of exon 7 in transcripts from the nearly identical SMN2 gene results in ubiquitous SMN decrease but selective motor neuron degeneration. Here we investigated whether cell type-specific differences in the efficiency of exon 7 splicing contribute to the vulnerability of SMA motor neurons. We show that normal motor neurons express markedly lower levels of full-length SMN mRNA from SMN2 than do other cells in the spinal cord. This is due to inefficient exon 7 splicing that is intrinsic to motor neurons under normal conditions. We also find that SMN depletion in mammalian cells decreases exon 7 inclusion through a negative feedback loop affecting the splicing of its own mRNA. This mechanism is active in vivo and further decreases the efficiency of exon 7 inclusion specifically in motor neurons of severe-SMA mice. Consistent with expression of lower levels of full-length SMN, we find that SMN-dependent downstream molecular defects are exacerbated in SMA motor neurons. These findings suggest a mechanism to explain the selective vulnerability of motor neurons to loss of SMN1.
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