[HTML][HTML] Modulation of survival motor neuron pre-mRNA splicing by inhibition of alternative 3′ splice site pairing
SR Lim, KJ Hertel - Journal of Biological Chemistry, 2001 - ASBMB
Spinal muscular atrophy is caused by the loss of functional survival motor neuron (SMN1)
alleles. A translationally silent nucleotide transition in the duplicated copy of the gene
(SMN2) leads to exon 7 skipping and expression of a nonfunctional gene product. It has
been suggested that differentialSMN2 splicing is caused by the disruption of an exonic
splicing enhancer. Here we show that the single nucleotide difference reduces the intrinsic
strength of the 3′ splice site of exon 7 2-fold, whereas the strength of the 5′ splice site of …
alleles. A translationally silent nucleotide transition in the duplicated copy of the gene
(SMN2) leads to exon 7 skipping and expression of a nonfunctional gene product. It has
been suggested that differentialSMN2 splicing is caused by the disruption of an exonic
splicing enhancer. Here we show that the single nucleotide difference reduces the intrinsic
strength of the 3′ splice site of exon 7 2-fold, whereas the strength of the 5′ splice site of …