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Human Molecular Genetics, 2000, Vol. 9, No. 13 1995-1999
© 2000 Oxford University Press

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

Nobuyuki Shimozawa+, Yasuyuki Suzuki, Zhongyi Zhang, Atsushi Imamura, Kamran Ghaedi1, Yukio Fujiki1 and Naomi Kondo

Department of Pediatrics, Gifu University School of Medicine, 40 Tsukasa-machi, Gifu 500-8076, Japan and Department of Biology, Kyushu University Graduate School of Science, Fukuoka 812-8581, Japan and 1Department of Biology, Kyushu University Graduate School of Science, Fukuoka 812-8581, Japan

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.

+ To whom correspondence should be addressed. Tel: +81 58 265 1241; Fax: +81 58 265 9011; Email: nshim@cc.gifu-u.ac.jp


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