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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 
 
 
 
 

Cloning of the alpha-adducin gene from the Huntington's disease candidate region of chromosome 4 by exon amplification.

We have applied the technique of exon amplification to the isolation of genes from the chromosome 4p16.3 Huntington's disease ( HD) candidate region. Exons recovered from cosmid Y24 identified cDNA clones corresponding to the alpha-subunit of adducin, a calmodulin-binding protein that is thought to promote assembly of spectrin-actin complexes in the formation of the membrane cytoskeleton, alpha-adducin is widely expressed and, at least in brain, is encoded by alternatively spliced mRNAs. The alpha-adducin gene maps immediately telomeric to D4S95, in a region likely to contain the HD defect, and must be scrutinized to establish whether it is the site of the HD mutation.[1]

References

  1. Cloning of the alpha-adducin gene from the Huntington's disease candidate region of chromosome 4 by exon amplification. Taylor, S.A., Snell, R.G., Buckler, A., Ambrose, C., Duyao, M., Church, D., Lin, C.S., Altherr, M., Bates, G.P., Groot, N. Nat. Genet. (1992) [Pubmed]
 
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