Premium
PABP2 polyalanine tract expansion causes intranuclear inclusions in oculopharyngeal muscular dystrophy
Author(s) -
Shanmugam Vijayalakshmi,
Dion Patrick,
Rochefort Daniel,
Laganière Janet,
Brais Bernard,
Rouleau Guy A.
Publication year - 2000
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/1531-8249(200011)48:5<798::aid-ana16>3.0.co;2-u
Subject(s) - oculopharyngeal muscular dystrophy , muscular dystrophy , pathological , trinucleotide repeat expansion , gene , pathology , inclusion bodies , biology , anatomy , medicine , genetics , allele , escherichia coli
Oculopharyngeal muscular dystrophy is caused by expansion of a (GCG) n trinucleotide repeat in the poly(A) binding protein 2 ( PABP2 ) gene. The pathological hallmark of oculopharyngeal muscular dystrophy is the accumulation of intranuclear inclusions in muscle fibers. To test whether the polyalanine expansion of PABP2 directly leads to the formation of the nuclear aggregates, both normal and expanded PABP2 cDNAs were expressed in COS‐7 cells. We find that expression of mutated PABP2 protein is sufficient for its accumulation as intranuclear inclusions. Ann Neurol 2000;48:798–802