THE NACP/SYNUCLEIN GENE - CHROMOSOMAL ASSIGNMENT AND SCREENING FOR ALTERATIONS IN ALZHEIMER-DISEASE
THE NACP/SYNUCLEIN GENE - CHROMOSOMAL ASSIGNMENT AND SCREENING FOR ALTERATIONS IN ALZHEIMER-DISEASE
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DOI：
10.1016/0888-7543(95)80208-4
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发表时间：
1995-03-20
期刊：
影响因子：
4.4
通讯作者：
FREBOURG, T
中科院分区：
文献类型：
--
作者：
CAMPION, D;MARTIN, C;FREBOURG, T
阿尔茨海默病中血管和斑块淀粉样沉积物的主要成分是淀粉样β肽（Aβ）。淀粉样蛋白的第二种内在成分，NAC（淀粉样蛋白的非 A β 成分）肽，最近已被鉴定出来，其前体蛋白被命名为 NACP。计算机同源性搜索使我们能够确定人类 NACP 基因与大鼠突触核蛋白基因同源。我们将 NACP/突触核蛋白基因定位到 4 号染色体，并在正常受试者的淋巴细胞中克隆了三个选择性剪接的转录本。我们通过 RT-PCR 和直接测序分析了一组患有家族性早发性阿尔茨海默病的患者的 NACP/突触核蛋白基因的整个编码区。 26名无关患者中未发现突变。需要进一步的研究来调查 NACP/突触核蛋白基因在阿尔茨海默病中的含义。 (C) 1995 学术出版社
The major component of the vascular and plaque amyloid deposits in Alzheimer disease is the amyloid beta peptide (A beta). A second intrinsic component of amyloid, the NAC (non-A beta component of amyloid) peptide, has recently been identified, and its precursor protein was named NACP. A computer homology search allowed us to establish that the human NACP gene was homologous to the rat synuclein gene. We mapped the NACP/synuclein gene to chromosome 4 and cloned three alternatively spliced transcripts in lymphocytes derived from a normal subject. We analyzed by RT-PCR and direct sequencing the entire coding region of the NACP/synuclein gene in a group of patients with familial early onset Alzheimer disease. No mutation was found in 26 unrelated patients. Further studies are required to investigate the implication of the NACP/synuclein gene in Alzheimer disease. (C) 1995 Academic Press, Inc.