Shanmugam V, Dion P, Rochefort D, Laganière J, Brais B, Rouleau G A
Centre for Research in Neuroscience, McGill University, and the Montreal General Hospital, Québec, Canada.
Ann Neurol. 2000 Nov;48(5):798-802.
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.
眼咽型肌营养不良症是由聚腺苷酸结合蛋白2（PABP2）基因中（GCG）n三核苷酸重复序列的扩增引起的。眼咽型肌营养不良症的病理标志是肌纤维中核内包涵体的积累。为了测试PABP2的聚丙氨酸扩增是否直接导致核聚集体的形成，正常和扩增的PABP2 cDNA均在COS-7细胞中表达。我们发现，突变的PABP2蛋白的表达足以使其作为核内包涵体积累。
