Somers K L, Wenger D A, Royals M A, Carstea E D, Connally H E, Kelly T, Kimball R, Thrall M A
Department of Pathology, Colorado State University, Fort Collins, Colorado, 80523, USA.
Mol Genet Metab. 1999 Feb;66(2):117-21. doi: 10.1006/mgme.1998.2778.
Complementation studies were performed to determine if the gene responsible for the major form of human Niemann-Pick type C disease (NPC) and a feline model of NPC are orthologous. Cell fusions between human NPC and feline NPC fibroblasts were conducted to assess whether the multinucleated heterokaryons that were formed showed a reversal of the NPC phenotype. Cultured fibroblasts from NPC-affected humans and NPC-affected cats were hybridized and then analyzed for complementation by challenging the cells with low-density lipoprotein (LDL) and subsequently staining with the fluorescent antibiotic filipin to visualize any abnormal accumulation of unesterified cholesterol. All of the multinucleated cells formed from these fusions retained the NPC staining phenotype, indicating an absence of complementation and suggesting that the underlying defect in the major form of human NPC and this feline model of NPC involve orthologous genes.
进行了互补研究，以确定导致人类主要形式的尼曼-匹克C型病（NPC）的基因与NPC猫模型的基因是否直系同源。进行了人类NPC和猫NPC成纤维细胞之间的细胞融合，以评估形成的多核异核体是否显示NPC表型的逆转。将受NPC影响的人类和受NPC影响的猫的培养成纤维细胞进行杂交，然后通过用低密度脂蛋白（LDL）刺激细胞并随后用荧光抗生素菲律宾菌素染色以观察未酯化胆固醇的任何异常积累来分析互补情况。这些融合形成的所有多核细胞都保留了NPC染色表型，表明不存在互补，并表明人类主要形式的NPC和这种NPC猫模型的潜在缺陷涉及直系同源基因。
