PMID: 9539740May 16, 1998Paper

Human PEX1 cloned by functional complementation on a CHO cell mutant is responsible for peroxisome-deficient Zellweger syndrome of complementation group I

Proceedings of the National Academy of Sciences of the United States of America
S TamuraY Fujiki

Abstract

The peroxisome biogenesis disorders (PBDs), including Zellweger syndrome (ZS) and neonatal adrenoleukodystrophy (NALD), are autosomal recessive diseases caused by defects in peroxisome assembly, for which at least 10 complementation groups have been reported. We have isolated a human PEX1 cDNA (HsPEX1) by functional complementation of peroxisome deficiency of a mutant Chinese hamster ovary (CHO) cell line, ZP107, transformed with peroxisome targeting signal type 1-tagged "enhanced" green fluorescent protein. This cDNA encodes a hydrophilic protein (Pex1p) comprising 1,283 amino acids, with high homology to the AAA-type ATPase family. A stable transformant of ZP107 with HsPEX1 was morphologically and biochemically restored for peroxisome biogenesis. HsPEX1 expression restored peroxisomal protein import in fibroblasts from three patients with ZS and NALD of complementation group I (CG-I), which is the highest-incidence PBD. A CG-I ZS patient (PBDE-04) possessed compound heterozygous, inactivating mutations: a missense point mutation resulting in Leu-664 --> Pro and a deletion of the sequence from Gly-634 to His-690 presumably caused by missplicing (splice site mutation). Both PBDE-04 PEX1 cDNAs were defective in peroxisome-restor...Continue Reading

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Citations

Jun 8, 2000·FEMS Microbiology Reviews·R J BaerendsM Veenhuis
Mar 6, 1999·Current Opinion in Microbiology·W H Kunau
Apr 30, 2003·Nature Cell Biology·Naomi MatsumotoYukio Fujiki
Jan 6, 2009·Proceedings of the National Academy of Sciences of the United States of America·Jian-Rong SuKunio Miki
Jan 15, 2010·The Journal of Biological Chemistry·Masanori HonshoYukio Fujiki
Jun 10, 2000·Molecular Biology of the Cell·K GhaediY Fujiki
Nov 4, 2008·Clinical Dysmorphology·Melita D IrvingChristine M Hall
Mar 3, 1999·Proceedings of the National Academy of Sciences of the United States of America·Y MatsuzonoY Fujiki
May 11, 2011·Traffic·Kanji OkumotoYukio Fujiki
Jul 4, 2012·Traffic·Hidenori Otera, Yukio Fujiki
May 26, 2006·Biochemical and Biophysical Research Communications·Wei Fan, Yukio Fujiki
Jun 11, 2002·Biochemical and Biophysical Research Communications·Eiko YanagoYukio Fujiki
Sep 27, 2012·The Biochemical Journal·Ryuichi NatsuyamaYukio Fujiki
Nov 28, 2000·Annual Review of Genetics·K A Sacksteder, S J Gould
Aug 31, 2000·Annual Review of Biochemistry·S SubramaniW B Snyder
Oct 19, 2006·Biochimica Et Biophysica Acta·Yukio FujikiKamran Ghaedi
Aug 30, 2014·Human Molecular Genetics·Sacha FerdinandusseDavid Valle
Oct 5, 2006·The FEBS Journal·Kumiko ShiozawaHidekazu Hiroaki
Aug 9, 2005·Human Mutation·Denis I CraneBarbara C Paton
May 12, 2019·Journal of Cell Science·Hideaki TanakaYukiko Gotoh
Aug 26, 2004·The Journal of Biological Chemistry·Kumiko ShiozawaHidekazu Hiroaki
Oct 9, 2001·The Journal of Biological Chemistry·P E Purdue, P B Lazarow

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