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人类tau基因的结构与新外显子

Structure and novel exons of the human tau gene.

作者信息

Andreadis A, Brown W M, Kosik K S

机构信息

Department of Neurology (Neuroscience), Harvard Medical School, Boston, Massachusetts.

出版信息

Biochemistry. 1992 Nov 3;31(43):10626-33. doi: 10.1021/bi00158a027.

Abstract

The microtubule-binding protein tau is important in establishing and maintaining neuronal morphology and is a major component of the neurofibrillary tangles (NFTs) characteristic of Alzheimer's brain. The neuron-specific tau transcript undergoes complex alternative splicing. The human tau gene has been cloned and mapped. The restriction analysis and partial sequencing of the gene shows that it contains (1) four alternatively spliced exons previously described in rodent and bovine but not in human tau cDNAs and (2) two CpG islands, one associated with the promoter region, the other with exon 9. Examination of human tau mRNA indicates that the human cerebrocortical splicing pattern differs from that previously reported for the murine and bovine tau mRNAs, despite conserved exon organization in all three genes.

摘要

微管结合蛋白tau在建立和维持神经元形态方面很重要,并且是阿尔茨海默病大脑特征性神经原纤维缠结(NFTs)的主要成分。神经元特异性tau转录本经历复杂的可变剪接。人类tau基因已被克隆和定位。该基因的限制性分析和部分测序表明,它包含(1)四个可变剪接外显子,以前在啮齿动物和牛中描述过,但在人类tau cDNA中未发现,以及(2)两个CpG岛,一个与启动子区域相关,另一个与外显子9相关。对人类tau mRNA的检查表明,尽管所有三个基因中外显子组织保守,但人类大脑皮质的剪接模式与先前报道的小鼠和牛tau mRNA的剪接模式不同。

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