过氧化物酶体生物发生互补群6的过氧化物酶体生物发生障碍中，过氧化物酶蛋白Pex6p基因受损。

The peroxin Pex6p gene is impaired in peroxisomal biogenesis disorders of complementation group 6.

作者信息

Matsumoto N, Tamura S, Moser A, Moser H W, Braverman N, Suzuki Y, Shimozawa N, Kondo N, Fujiki Y

机构信息

Department of Biology, Faculty of Sciences, Kyushu University Graduate School, Fukuoka, Japan.

出版信息

J Hum Genet. 2001;46(5):273-7. doi: 10.1007/s100380170078.

DOI:10.1007/s100380170078

PMID:11355018

Abstract

Human genetic peroxisomal biogenesis disorders (PBDs), such as Zellweger syndrome, comprise 13 different complementation groups (CGs). Eleven peroxin genes, termed PEXs, responsible for PBDs have been identified, whereas pathogenic genes for PBDs of 2CGs, CG-A (the same CG as CG8 in the United States and Europe) and CG6, remained unidentified. We herein provide several lines of novel evidence indicating that PEX6, the pathogenic gene for CG4, is impaired in PBD of CG6. Expression of PEX6 restored peroxisome assembly in fibroblasts from a CG6 PBD patient. This patient was a compound heterozygote for PEX6 gene alleles. Accordingly, by merging CG6 with CG4, human PBDs are now classified into 12CGs.

摘要

人类遗传性过氧化物酶体生物发生障碍（PBDs），如泽尔韦格综合征，由13个不同的互补群（CGs）组成。已经确定了11个与PBDs相关的过氧化物酶基因，称为PEXs，而2个互补群CG-A（与美国和欧洲的CG8为同一互补群）和CG6的PBDs致病基因仍未确定。我们在此提供了几条新的证据，表明CG4的致病基因PEX6在CG6的PBD中受损。PEX6的表达恢复了一名CG6 PBD患者成纤维细胞中的过氧化物酶体组装。该患者是PEX6基因等位基因的复合杂合子。因此，通过将CG6与CG4合并，人类PBDs现在被分为12个互补群。