Wasco W, Gurubhagavatula S, Paradis M D, Romano D M, Sisodia S S, Hyman B T, Neve R L, Tanzi R E
Laboratory of Genetics and Aging, Massachusetts General Hospital, Charlestown 02129.
Nat Genet. 1993 Sep;5(1):95-100. doi: 10.1038/ng0993-95.
Familial Alzheimer's disease (FAD) is a genetically heterogeneous disorder that includes a rare early-onset form linked to mutations in the amyloid b protein precursor (APP) gene. Clues to the function of APP derive from the recent finding that it is a member of a highly conserved protein family that includes the mammalian amyloid precursor-like protein (APLP1) gene which maps to the same general region of human chromosome 19 linked to late-onset FAD. Here we report the isolation of the human APLP2 gene. We show that APLP2 is a close relative of APP and exhibits a very similar pattern of expression in the brain and throughout the body. Like APP, APLP2 contains a cytoplasmic domain predicted to couple with the GTP-binding protein G(o) indicating that it may be an additional cell surface activator of this G protein.
家族性阿尔茨海默病（FAD）是一种基因异质性疾病，包括一种罕见的早发性形式，与淀粉样β蛋白前体（APP）基因突变有关。APP功能的线索来自最近的一项发现，即它是一个高度保守的蛋白质家族的成员，该家族包括哺乳动物淀粉样前体样蛋白（APLP1）基因，该基因定位于与晚发性FAD相关的人类19号染色体的同一大致区域。在此，我们报告人类APLP2基因的分离。我们表明，APLP2是APP的近亲，在大脑和全身表现出非常相似的表达模式。与APP一样，APLP2含有一个预测与GTP结合蛋白G(o)偶联的胞质结构域，表明它可能是这种G蛋白的另一种细胞表面激活剂。
