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| Content Provider | World Health Organization (WHO)-Global Index Medicus |
|---|---|
| Author | Osumi, T. Suzuki, Y. Tamura, S. Shimozawa, N. Kondo, N. Toyama, R. Fujiki, Y. Okumoto, K. Tsukamoto, T. |
| Description | Author Affiliation: Tamura S ( Department of Biology, Faculty of Science, Kyushu University, Fukuoka 812-81, Japan.); |
| 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-restoring activity when expressed in the patient fibroblasts as well as in ZP107 cells. These results demonstrate that PEX1 is the causative gene for CG-I peroxisomal disorders. |
| ISSN | 00278424 |
| e-ISSN | 10916490 |
| Journal | Proceedings of the National Academy of Sciences of the United States of America |
| Issue Number | 8 |
| Volume Number | 95 |
| Language | English |
| Publisher | National Academy of Sciences |
| Publisher Date | 1998-05-01 |
| Publisher Place | United States |
| Access Restriction | Open |
| Subject Keyword | Membrane Proteins Biosynthesis Zellweger Syndrome Genetics Adenosine Triphosphatases Amino Acid Sequence Animals CHO Cells Cell Line Cloning, Organism Cricetinae Fibroblasts Genetic Complementation Test Kinetics Microbodies Physiology Molecular Sequence Data Pichia Recombinant Proteins Saccharomyces Cerevisiae Saccharomyces Cerevisiae Proteins Sequence Alignment Sequence Homology, Amino Acid Skin Metabolism Transfection Comparative Study Research Support, Non-U.S. Gov't Multidisciplinary |
| Content Type | Text |
| Resource Type | Article |
| Subject | Multidisciplinary |
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