Hong C S, Koo E H
Department of Neurology, Harvard Medical School, Boston MA 02115, USA.
Neuroreport. 1997 Feb 10;8(3):665-8. doi: 10.1097/00001756-199702100-00017.
Presenilin-1 (PS1) and presenilin-2 (PS2) are associated with a majority of early onset familial Alzheimer's disease (FAD). Sequence analysis of PS1/2 has revealed integral transmembrane proteins which are highly homologous to the protein coded by sel-12, a Caenorhabditis elegans gene involved in the lin-12/Notch signaling pathway. The normal function of PS1/2, as well as the pathogenesis caused by mutations of these genes in FAD, are unknown however. We have identified a Drosophila presenilin homolog (DPS) and mapped the chromosomal location of this gene. DPS shows 53% amino acid identity to PS1/2 and 45% to the sel-12 product. Strong amino acid conservations appear at the position associated with FAD. In embryonic stages, DPS is expressed primarily in the CNS.
早老素-1(PS1)和早老素-2(PS2)与大多数早发性家族性阿尔茨海默病(FAD)相关。PS1/2的序列分析揭示了完整的跨膜蛋白,这些蛋白与sel-12编码的蛋白高度同源,sel-12是一种参与秀丽隐杆线虫lin-12/Notch信号通路的基因。然而,PS1/2的正常功能以及这些基因在FAD中的突变所导致的发病机制尚不清楚。我们已经鉴定出一种果蝇早老素同源物(DPS)并绘制了该基因的染色体定位。DPS与PS1/2有53%的氨基酸同一性,与sel-12产物有45%的氨基酸同一性。在与FAD相关的位置出现了强烈的氨基酸保守性。在胚胎阶段,DPS主要在中枢神经系统中表达。