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Genomics

CRE-II site in SMN promoter positively regulates expression of SMN gene

Published in Blood Weekly, June 17th, 2004

CRE-II site in the survival motor neuron promoter positively regulates expression of the SMN gene.

According to a study from Ohio State University, "Spinal muscular atrophy, an autosomal recessive disorder, is caused by loss of the SMN1 (survival motor neuron) gene while retaining the SMN2 gene. SMN1 produces a majority of full-length SMN transcript, whereas SMN2 generates mostly an isoform lacking exon 7. Here, we demonstrate a novel cAMP-response element, CRE-II, in the SMN promoter that interacts with the cAMP-response element-binding (CREB) family of proteins."

"In vitro DNase I protection analysis and in vivo genomic foot-printing of the SMN...

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