Mutation in PEX16 Is Causal in the Peroxisome-Deficient Zellweger Syndrome of Complementation Group D Masanori Honsho, Shigehiko Tamura, Nobuyuki Shimozawa,

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Mutation in PEX16 Is Causal in the Peroxisome-Deficient Zellweger Syndrome of Complementation Group D Masanori Honsho, Shigehiko Tamura, Nobuyuki Shimozawa, Yasuyuki Suzuki, Naomi Kondo, Yukio Fujiki The American Journal of Human Genetics Volume 63, Issue 6, Pages 1622-1630 (December 1998) DOI: 10.1086/302161 Copyright © 1998 The American Society of Human Genetics Terms and Conditions

Figure 1 Deduced amino acid sequence of HsPEX16 protein from CG-D ZS patient PBDD-01 (Hs), in comparison with that of Pex16p from Y. lipolytica (Yl). Broken lines (- - -) indicate a space. Amino acids that are identical in HsPEX16 and YlPEX16 proteins are shaded; hydrophobic segments are overlined. The arrowhead indicates the position of the mutation in the patient. The GenBank accession number for HsPEX16 cDNA is AB016531. The American Journal of Human Genetics 1998 63, 1622-1630DOI: (10.1086/302161) Copyright © 1998 The American Society of Human Genetics Terms and Conditions

Figure 2 Complementation of peroxisomes in fibroblasts from a CG-D ZS patient. A, Transfection of HsPEX16 into fibroblasts from a CG-D patient (PBDD-01) with ZS: fibroblasts from (a) a normal control, (b–d and f–h) PBDD-01, and (e) a CG-F patient with ZS (Shimozawa et al. 1992b). PBDB-01 fibroblasts were transfected with pCMVSPORT•HsPEX16 (panels c and g) and PBDD-01–derived PEX16, PEX16R176Ter (panels d and h). Cells were stained with antibodies to catalase (panels a–d) and to PMP70 (panels e–h; magnification ×600 [bar=20 μm]). Note that peroxisomes were restored in c and g but not in d and h. B, Biogenesis of peroxisomal proteins. Cell lysates (2×105 cells) were subjected to SDS-PAGE and transferred to polyvinylidene difluoride membrane. Immunoblot analysis was done with rabbit anti–3-ketoacyl-CoA thiolase antibody (Tsukamoto et al. 1990). Lane 1, Normal control fibroblasts. Lane 2, PBDD-01 fibroblasts. Lane 3, PBDD-01 fibroblasts transiently transfected with HsPEX16. Unblackened and blackened arrowheads indicate a larger precursor (P) and mature form (M) of 3-ketoacyl-CoA thiolase, respectively; dot (˙) indicates a nonspecific band. The American Journal of Human Genetics 1998 63, 1622-1630DOI: (10.1086/302161) Copyright © 1998 The American Society of Human Genetics Terms and Conditions

Figure 3 Mutation analysis of PEX16 from a CG-D ZS patient. Partial nucleotide sequence and deduced amino acid sequence of PEX16 cDNA isolated from a normal control (left) and from ZS patient PBDD-01 (middle) are shown. A point mutation at nucleotide residue 526 (shaded region) caused a nonsense mutation in PBDD-01 PEX16 (middle). PCR was also done for DNA from PBDD-01 fibroblasts (right). The nucleotide sequence was determined for the antisense strand (above); its complementary sense sequence is also shown (below). The American Journal of Human Genetics 1998 63, 1622-1630DOI: (10.1086/302161) Copyright © 1998 The American Society of Human Genetics Terms and Conditions

Figure 4 Intracellular localization of Pex16p. Human Pex16p tagged with HA at its C-terminus was expressed in wild-type CHO-K1 cells. Cells were stained with mouse anti-HA antibody (a) and rabbit anti-PMP70 antibody (b). Rabbit IgG was detected with Texas Red–labeled goat anti–rabbit IgG antibody (Leinco Technologies). Arrowheads indicate a Pex16p-HA–expressing cell. Note that punctate structures, peroxisomes, are superposable in panels a and b. Large spots are apparently unwashed lipofectamine or its debris (magnification ×630 [bar= 20 μm]). The American Journal of Human Genetics 1998 63, 1622-1630DOI: (10.1086/302161) Copyright © 1998 The American Society of Human Genetics Terms and Conditions