New spinal muscular atrophy research reported from College of Medicine
2007 NOV 12 -- Fresh data on spinal muscular atrophy are presented in the report 'Targeting of SMN to Cajal bodies is mediated by self-association.' According to recent research from Exeter, the United Kingdom, "The childhood autosomal recessive disorder spinal muscular atrophy (SMA) is caused by mutations in the survival motor neuron (SMN) gene. SMN localizes diffusely in the cytoplasm and in distinct nuclear structures called Cajal bodies." "Cajal bodies are believed to be the storage and processing sites of several ribonucleoproteins. Here, using a novel panel of SMN exon deletion constructs, we report a systematic analysis of internal targeting domains in the SMN protein. We demonstrate that the peptides encoded by exons 2b, 3 and 6 perform an integral role in the cellular targeting of SMN. In addition, we identify a nine amino acid motif within the highly conserved sequences of the exon 2b encoded domain that mediates Cajal body targeting and self-association. Deletion of this domain dramatically affects SMN activity and results in a dominant-negative clone," wrote R. Morse and colleagues, College of Medicine. The researchers concluded: "These results identify critical domains within the SMN protein and have an impact on our understanding of the SMN protein with regards to SMA as well as cellular biology." Morse and colleagues published their study in Human Molecular Genetics (Targeting of SMN to Cajal bodies is mediated by self-association. Human Molecular Genetics, 2007;16(19):2349-58). For additional information, contact R. Morse, Institute of Biomedical and Clinical Science, Peninsula College of Medicine and Dentistry, Exeter, UK. Publisher contact information for the journal Human Molecular Genetics is: Oxford University Press, Great Clarendon St., Oxford OX2 6DP, England. Keywords: United Kingdom, Exeter, Charcot-Marie-Tooth Disease, Spinal Muscular Atrophy. This article was prepared by Pain & Central Nervous System Week editors from staff and other reports. Copyright 2007, Pain & Central Nervous System Week via NewsRx.com.
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