Tsukamoto T, Miura S, Nakai T, Yokota S, Shimozawa N, Suzuki Y, Orii T, Fujiki Y, Sakai F, Bogaki A, Yasumo H, Osumi T
Department of Life Science, Himeji Institute of Technology, Hyogo, Japan.
Nat Genet. 1995 Dec;11(4):395-401. doi: 10.1038/ng1295-395.
Rat peroxisome assembly factor-2 (PAF-2) cDNA was isolated by functional complementation of peroxisome deficiency of a mutant CHO cell line, ZP92, using transient transfection assay. This cDNA encodes a 978-amino acid protein with two putative ATP-binding sites. PAF-2 is a member of a putative ATPase family, including two yeast gene products essential for peroxisome assembly. A stable transformant of ZP92 with the cDNA was morphologically and biochemically restored for peroxisome biogenesis. Fibroblasts derived from patients deficient in peroxisome biogenesis (complementation group C) were also complemented with PAF-2 cDNA, indicating that PAF-2 is a strong candidate for the pathogenic gene of group C peroxisome deficiency.
利用瞬时转染试验，通过对突变型中国仓鼠卵巢（CHO）细胞系ZP92的过氧化物酶体缺陷进行功能互补，分离出大鼠过氧化物酶体组装因子2（PAF-2）的互补DNA（cDNA）。该cDNA编码一种含有两个推定ATP结合位点的978个氨基酸的蛋白质。PAF-2是一个推定的ATP酶家族的成员，该家族包括过氧化物酶体组装所必需的两种酵母基因产物。用该cDNA构建的ZP92稳定转化体在形态和生化方面恢复了过氧化物酶体生物发生。来自过氧化物酶体生物发生缺陷患者（互补组C）的成纤维细胞也用PAF-2 cDNA进行了互补，这表明PAF-2是C组过氧化物酶体缺陷致病基因的有力候选者。
