Brown A, Dalpé G, Mathieu M, Kothary R
Institut du cancer de Montréal, Centre de Recherche L.-C. Simard, Québec, Canada.
Genomics. 1995 Oct 10;29(3):777-80. doi: 10.1006/geno.1995.9936.
Dystonia musculorum (dt) is a hereditary neurodegenerative disease in mice that leads to a sensory ataxia. We have identified and cloned a gene encoded at the dt locus. The product of the dt gene, dystonin, is a neural isoform of a hemidesmosomal protein bullous pemphigoid antigen 1 (bpag1). To investigate the potential role of dystonin in human neuropathies, we have cloned the neural-specific 5' exons of the human DT gene that together with the previously cloned BPAG1 sequences comprise human dystonin. The mouse and human dystonin genes demonstrate the same spectrum of alternatively spliced products, and the amino acid sequences of the neural-specific exons in the mouse and human genes are over 96% identical.
肌张力障碍小鼠（dt）是一种遗传性神经退行性疾病，可导致感觉性共济失调。我们已经鉴定并克隆了一个位于dt位点编码的基因。dt基因的产物——网蛋白，是半桥粒蛋白天疱疮抗原1（bpag1）的一种神经亚型。为了研究网蛋白在人类神经病变中的潜在作用，我们克隆了人类DT基因的神经特异性5'外显子，这些外显子与先前克隆的BPAG1序列共同构成了人类网蛋白。小鼠和人类的网蛋白基因表现出相同的可变剪接产物谱，并且小鼠和人类基因中神经特异性外显子的氨基酸序列相似度超过96%。
