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Article

A novel human-specific splice isoform alters the critical C-terminus of Survival Motor Neuron protein

2 Aug 2016

Abstract excerpt

Spinal muscular atrophy (SMA), a leading genetic disease of children and infants, is caused by mutations or deletions of Survival Motor Neuron 1 (SMN1) gene. SMN2, a nearly identical copy of SMN1, fails to compensate for the loss of SMN1 due to skipping of exon 7. SMN2 predominantly produces SMNΔ7, an unstable protein. Here we report exon 6B, a novel exon, generated by exonization of an intronic Alu-like sequence...

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PMID: 27481219
DOI: 10.1038/srep30778

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