PEX3 Is the Causal Gene Responsible for Peroxisome Membrane Assembly–Defective Zellweger Syndrome of Complementation Group G Kamran Ghaedi, Masanori.

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PEX3 Is the Causal Gene Responsible for Peroxisome Membrane Assembly–Defective Zellweger Syndrome of Complementation Group G Kamran Ghaedi, Masanori Honsho, Nobuyuki Shimozawa, Yasuyuki Suzuki, Naomi Kondo, Yukio Fujiki The American Journal of Human Genetics Volume 67, Issue 4, Pages 976-981 (October 2000) DOI: 10.1086/303086 Copyright © 2000 The American Society of Human Genetics Terms and Conditions

Figure 1 Impaired PEX3 in a patient with CG-G ZS. A, Expression of HsPEX3, which restores peroxisome assembly. HsPEX3 and flag-tagged PEX3delEx11 derived from PBDG-02 (see fig. 1B) were separately expressed in PBDG-02's fibroblasts (a and b); flag-tagged HsPEX3 and flag-tagged PEX3delEx11 were transfected into pex3 ZPG208 cells (c and d). Cell staining was done by use of primary rabbit antibodies to catalase (a and b) and PMP70 (c and d) and of a secondary Texas Red–labeled sheep anti-rabbit immunoglobulin G antibody. In b, the scale bar (which also applies to a) = 40 μm; in d, the scale bar (which also applies to c) = 20 μm. Note that peroxisomes were restored in (a and c) but not in (b and d). B, Mutation analysis of PEX3 from a patient with CG-G ZS, PBDG-02. Partial nucleotide sequence and the deduced amino acid sequence of PEX3 cDNA isolated from a normal control (upper-left panel) and PBDG-02 (lower-left panel) are shown. A 97-bp deletion of nucleotide residues 942–1038 (boxed) was identified. PCR was also done for DNA from a normal control (upper-right panel) and from PBDG-02's fibroblasts (lower-right panel); the nucleotide sequence of PCR products was determined. Only partial sequence at the boundary of intron 10 and exon 11 is shown; a codon for Leu315 is underlined in the sequence of the normal control. The American Journal of Human Genetics 2000 67, 976-981DOI: (10.1086/303086) Copyright © 2000 The American Society of Human Genetics Terms and Conditions

Figure 2 Complementation of biogenesis of peroxisomal proteins. Cell lysates (∼2×105 cells) were subjected to SDS-PAGE and were transferred to polyvinylidene difluoride membrane. Immunoblot analysis was done by use of rabbit antibodies to PMP70 (top), thiolase (middle), and AOx (bottom) and an ECL western-blotting detection reagent. Lane 1, Normal control fibroblasts. Lane 2, PBDG-02's fibroblasts. Lane 3, PBDG-02's fibroblasts transiently transfected with HsPEX3. Unblackened and blackened arrowheads indicate PMP70 and a mature form of thiolase, respectively; arrows indicate AOx components A–C. Dots indicate nonspecific bands (Kinoshita et al. 1998; Tamura et al. 1998). The American Journal of Human Genetics 2000 67, 976-981DOI: (10.1086/303086) Copyright © 2000 The American Society of Human Genetics Terms and Conditions