Taylor S A, Snell R G, Buckler A, Ambrose C, Duyao M, Church D, Lin C S, Altherr M, Bates G P, Groot N
Molecular Neurogenetics Unit, Massachusetts General Hospital, Boston.
Nat Genet. 1992 Nov;2(3):223-7. doi: 10.1038/ng1192-223.
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.
