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.
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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