SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein
SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein
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DOI：
10.1093/hmg/10.14.1441
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发表时间：
2001-07-01
影响因子：
3.5
通讯作者：
Kanazawa, I
中科院分区：
文献类型：
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作者：
Nakamura, K;Jeong, SY;Kanazawa, I
至少20%的常染色体显性小脑共济失调（ADCA）的遗传病因尚未明确。我们在四个日本家系中发现了一种新的脊髓小脑共济失调（SCA）形式，这是由TATA结合蛋白（TBP）基因（一种通用转录起始因子）的异常CAG扩增引起的。因此，它已被添加到多聚谷氨酰胺疾病组。TBP中谷氨酰胺束的这种异常扩增具有47-55个重复，而正常重复数范围为29至42。进行48 CAG重复的死后大脑的免疫细胞化学检查检测到神经元核内包涵体，其用抗泛素抗体、抗TBP抗体和1C 2抗体染色，所述1C 2抗体识别特异性扩大的病理性多聚谷氨酰胺束。因此，我们建议将这种新疾病称为SCA 17（TBP疾病）。
Genetic etiologies of at least 20% of autosomal dominant cerebellar ataxias (ADCAs) have yet to be clarified. We identified a novel spinocerebellar ataxia (SCA) form in four Japanese pedigrees which is caused by an abnormal CAG expansion in the TATA-binding protein (TBP) gene, a general transcription initiation factor. Consequently, it has been added to the group of polyglutamine diseases. This abnormal expansion of glutamine tracts in TBP bears 47-55 repeats, whereas the normal repeat number ranges from 29 to 42. Immunocytochemical examination of a postmortem brain which carried 48 CAG repeats detected neuronal intranuclear inclusion bodies that stained with anti-ubiquitin antibody, anti-TBP antibody and with the 1C2 antibody that recognizes specifically expanded pathological polyglutamine tracts. We therefore propose that this new disease be called SCA17 (TBP disease).