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Article

Splicing of a Critical Exon of Human <i>Survival Motor Neuron</i> Is Regulated by a Unique Silencer Element Located in the Last Intron

31 Jan 2006

Abstract excerpt

Humans have two nearly identical copies of the Survival Motor Neuron (SMN) gene, SMN1 and SMN2. In spinal muscular atrophy (SMA), SMN2 is not able to compensate for the loss of SMN1 due to exclusion of exon 7. Here we describe a novel inhibitory element located immediately downstream of the 5' splice site in intron 7. We call this element intronic splicing silencer N1 (ISS-N1). Deletion of ISS-N1 promoted exon 7...

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Identifiers

PMID: 16449646
DOI: 10.1128/mcb.26.4.1333-1346.2006

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