| pubmed-article:10339583 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:10339583 | lifeskim:mentions | umls-concept:C1273518 | lld:lifeskim |
| pubmed-article:10339583 | lifeskim:mentions | umls-concept:C0026847 | lld:lifeskim |
| pubmed-article:10339583 | lifeskim:mentions | umls-concept:C0028630 | lld:lifeskim |
| pubmed-article:10339583 | lifeskim:mentions | umls-concept:C0017337 | lld:lifeskim |
| pubmed-article:10339583 | lifeskim:mentions | umls-concept:C0035687 | lld:lifeskim |
| pubmed-article:10339583 | lifeskim:mentions | umls-concept:C1420295 | lld:lifeskim |
| pubmed-article:10339583 | lifeskim:mentions | umls-concept:C1416797 | lld:lifeskim |
| pubmed-article:10339583 | lifeskim:mentions | umls-concept:C0851285 | lld:lifeskim |
| pubmed-article:10339583 | lifeskim:mentions | umls-concept:C0205171 | lld:lifeskim |
| pubmed-article:10339583 | pubmed:issue | 11 | lld:pubmed |
| pubmed-article:10339583 | pubmed:dateCreated | 1999-6-24 | lld:pubmed |
| pubmed-article:10339583 | pubmed:abstractText | SMN1 and SMN2 (survival motor neuron) encode identical proteins. A critical question is why only the homozygous loss of SMN1, and not SMN2, results in spinal muscular atrophy (SMA). Analysis of transcripts from SMN1/SMN2 hybrid genes and a new SMN1 mutation showed a direct relationship between presence of disease and exon 7 skipping. We have reported previously that the exon-skipped product SMNDelta7 is partially defective for self-association and SMN self-oligomerization correlated with clinical severity. To evaluate systematically which of the five nucleotides that differ between SMN1 and SMN2 effect alternative splicing of exon 7, a series of SMN minigenes was engineered and transfected into cultured cells, and their transcripts were characterized. Of these nucleotide differences, the exon 7 C-to-T transition at codon 280, a translationally silent variance, was necessary and sufficient to dictate exon 7 alternative splicing. Thus, the failure of SMN2 to fully compensate for SMN1 and protect from SMA is due to a nucleotide exchange (C/T) that attenuates activity of an exonic enhancer. These findings demonstrate the molecular genetic basis for the nature and pathogenesis of SMA and illustrate a novel disease mechanism. Because individuals with SMA retain the SMN2 allele, therapy targeted at preventing exon 7 skipping could modify clinical outcome. | lld:pubmed |
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| pubmed-article:10339583 | pubmed:language | eng | lld:pubmed |
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| pubmed-article:10339583 | pubmed:citationSubset | IM | lld:pubmed |
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| pubmed-article:10339583 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:10339583 | pubmed:month | May | lld:pubmed |
| pubmed-article:10339583 | pubmed:issn | 0027-8424 | lld:pubmed |
| pubmed-article:10339583 | pubmed:author | pubmed-author:AndrophyE JEJ | lld:pubmed |
| pubmed-article:10339583 | pubmed:author | pubmed-author:WirthBB | lld:pubmed |
| pubmed-article:10339583 | pubmed:author | pubmed-author:HahnenEE | lld:pubmed |
| pubmed-article:10339583 | pubmed:author | pubmed-author:LorsonC LCL | lld:pubmed |
| pubmed-article:10339583 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:10339583 | pubmed:day | 25 | lld:pubmed |
| pubmed-article:10339583 | pubmed:volume | 96 | lld:pubmed |
| pubmed-article:10339583 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:10339583 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:10339583 | pubmed:pagination | 6307-11 | lld:pubmed |
| pubmed-article:10339583 | pubmed:dateRevised | 2009-11-19 | lld:pubmed |
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| pubmed-article:10339583 | pubmed:year | 1999 | lld:pubmed |
| pubmed-article:10339583 | pubmed:articleTitle | A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy. | lld:pubmed |
| pubmed-article:10339583 | pubmed:affiliation | Department of Dermatology, New England Medical Center, Tufts University School of Medicine, Boston, MA 02111, USA. | lld:pubmed |
| pubmed-article:10339583 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:10339583 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
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