Sergio LAURITO1, 2, Juan A. CUETO1, 3, Jimena PEREZ1, María ROQUÉ1, 2
BIOCELL, Vol.42, No.3, pp. 87-92, 2018, DOI:10.32604/biocell.2018.07016
Abstract Spinal muscular atrophy (SMA) is caused by dysfunction of the alpha motor neurons of the spinal cord.
It is an autosomal recessive disease associated to the SMN1 gene, located in the subtelomeric region of 5q13. A
paralog SMN2 gene is located at the centromeric region of the same chromosome, which apparently originated by
an ancestral inverted duplication occurring only in humans. The exon sequence differs in two nucleotides in exon 7
and exon 8, which leads to an SMN2 transcript that lacks exon 7 and results in a truncated protein. Part (10%) of the
SMN2 transcripts avoids the splicing of… More >
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