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Molecular and cellular approaches to peroxisome biogemesis and human peroxisome-deficient disorders. Yukio FUJIKI 1 1Meiji Institute of Health Science pp.982-988
Published Date 1993/12/10
DOI https://doi.org/10.11477/mf.1431900391
  • Abstract
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Peroxisome is a model organelle to investigate the mechanism of protein translocation and organelle assembly. Topogenic signals specific for peroxisomal protein transport have been studied both in vivo and in vitro. One type of the targeting signals is the -Ser-Lys-Leu-COOH (SKL) motif located at the C-termini of a dozen of peroxisomal enzymes and another is the N-terminal extension peptides of 3-ketoacyl-CoA thiolase. Human autosomal recessive peroxisomal disorders are of clinical consequence as well as a model system to study the biogenesis and physiological significance of peroxisomes. In patients with generalized peroxisomal disease such as cerebrohepatorenal Zellweger syndrome where peroxisomes are morphologically absent, all peroxisomal proteins appear to be normally synthesized but assembly of peroxisomes is impaired. Thus far, nine complementation groups have been reported for these peroxisome-defective disorders. We have isolated several somatic animal cell mutants defective in biogenesis of peroxisomes. By genetic functional complementation analysis following the transfection of cDNA library to one of these cell mutants, Z65, we identified 35-kDa peroxisome assembly factor-1 (PAF-1) essential for peroxisome assembly. Moreover, we have recently delineated the primary defect in a Zellweger patient who belonged to the same complementation group as Z65. The cause of this syndrome was a homozygous nonsense point mutation in PAF-1 gene.


Copyright © 1993, Igaku-Shoin Ltd. All rights reserved.

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電子版ISSN 1882-1243 印刷版ISSN 0001-8724 医学書院

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