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. 2018 Feb 23;19(2):632. doi: 10.3390/ijms19020632

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© 2018 by the authors.

Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).

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Human SMN1 and SMN2 genes are located respectively in the telomeric and centromeric region of chromosome 5. The single nucleotide difference in exon 7 (C or T as indicated) of SMN1 and SMN2 gene affects their splicing. The single nucleotide change from C to T drastically reduces the efficiency of exon 7 inclusion and increase the production of the truncated mRNAs and proteins [121]. SMN has been shown to self-associate and functions as an oligomer [117]. The stability of SMN protein is highly influenced by oligomerization [119]. The splice variant lacking exon 7 (SMNΔ7) impairs oligomerization leading to rapid degradation of SMN [119]. SMN2 is present in all SMA patients. Splice intervention therapies promote SMN2 exon 7 retention offer a promising approach for SMA therapy by increasing the amount of full-length SMN2 transcript [122].