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Determinants of Exon 7 Splicing in the Spinal Muscular Atrophy Genes, SMN1 and SMN2

 
  December, 14 2005 10:45
your information resource in human molecular genetics
 
     
Spinal muscular atrophy is a neurodegenerative disorder caused by the deletion or mutation of the survival-of-motor-neuron gene, SMN1. The authors report in the Jan 2006 issue of The American Journal of Human Genetics (Vol. 78, pp. 63-77) the extensive testing of the enhancer-loss and silencer-gain models by mutagenesis, RNA interference, overexpression, RNA splicing, and RNA-protein interaction experiments. Their findings explain the basis of defective SMN2 splicing, illustrate the fine balance between positive and negative determinants of exon identity and alternative splicing, and underscore the importance of antagonistic splicing factors and exonic elements in a disease context.

Author Contact:

Adrian R. Krainer
Cold Spring Harbor Laboratory, Cold Spring Harbor, NY.

Abstract available online.

(C) The American Journal of Human Genetics.

Posted by: Tressie Dalaya


Message posted by: Trevor M. D'Souza

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