Journal Article

Identification of <i>PEX3</i> as the gene mutated in a Zellweger syndrome patient lacking peroxisomal remnant structures

Nobuyuki Shimozawa, Yasuyuki Suzuki, Zhongyi Zhang, Atsushi Imamura, Kamran Ghaedi, Yukio Fujiki and Naomi Kondo

in Human Molecular Genetics

Volume 9, issue 13, pages 1995-1999
Published in print August 2000 | ISSN: 0964-6906
Published online August 2000 | e-ISSN: 1460-2083 | DOI: http://dx.doi.org/10.1093/hmg/9.13.1995
Identification of PEX3 as the gene mutated in a Zellweger syndrome patient lacking peroxisomal remnant structures

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Peroxisome biogenesis disorders, of which 13 complementation groups have been identified, are subdivided with regard to two major dysfunctions: peroxisomal matrix protein import and peroxisomal membrane synthesis. Detectable remnant membrane structures are evident only in the former. Molecular defects have been defined in 10 PEX genes, including eight related to protein import and two to membrane synthesis. We now have evidence that the human complete cDNA encoding Pex3p, a peroxisomal membrane protein (PMP) factor for the proper localization of PMPs, rescues the import of both PMP and the matrix protein in fibroblasts from a Zellweger syndrome patient of complementation group G. This patient was homozygous for a 1 base insertion in the codon for V182, which resulted in a change of codon (182–183) and introduced a termination codon (184), which inactivated PMP and matrix protein import by Pex3p. A PEX3-defective CHO mutant clone, ZPG208, was of the same complementation group as group G.

Journal Article.  2737 words.  Illustrated.

Subjects: Genetics and Genomics

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