PEX12, the pathogenic gene of group III Zellweger syndrome: cDNA cloning by functional complementation on a CHO cell mutant, patient analysis, and characterization of PEX12p.

Molecular and Cellular Biology
K OkumotoY Fujiki

Abstract

Rat PEX12 cDNA was isolated by functional complementation of peroxisome deficiency of a mutant CHO cell line, ZP109 (K. Okumoto, A. Bogaki, K. Tateishi, T. Tsukamoto, T. Osumi, N. Shimozawa, Y. Suzuki, T. Orii, and Y. Fujiki, Exp. Cell Res. 233:11-20, 1997), using a transient transfection assay and an ectopic, readily visible marker, green fluorescent protein. This cDNA encodes a 359-amino-acid membrane protein of peroxisomes with two transmembrane segments and a cysteine-rich zinc finger, the RING motif. A stable transformant of ZP109 with the PEX12 was morphologically and biochemically restored for peroxisome biogenesis. Pex12p was shown by expression of bona fide as well as epitope-tagged Pex12p to expose both N- and C-terminal regions to the cytosol. Fibroblasts derived from patients with the peroxisome deficiency Zellweger syndrome of complementation group III (CG-III) were also complemented for peroxisome biogenesis with PEX12. Two unrelated patients of this group manifesting peroxisome deficiency disorders possessed homozygous, inactivating PEX12 mutations: in one, Arg180Thr by one point mutation, and in the other, deletion of two nucleotides in codons for 291Asn and 292Ser, creating an apparently unchanged codon for Asn...Continue Reading

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Citations

Apr 6, 2007·Experimental Cell Research·Shinta KobayashiYukio Fujiki
Dec 26, 2006·Experimental Parasitology·Tracy SaveriaMarilyn Parsons
May 11, 2011·Traffic·Kanji OkumotoYukio Fujiki
Nov 16, 2004·Molecular Genetics and Metabolism·Steven SteinbergNancy Braverman
Jun 11, 2002·Biochemical and Biophysical Research Communications·Noriko AkiyamaYukio Fujiki
Jun 11, 2002·Biochemical and Biophysical Research Communications·Eiko YanagoYukio Fujiki
Aug 12, 1999·American Journal of Human Genetics·Y LiuS J Gould
Mar 15, 2014·Journal of Neurology·Maria SchabhüttlMichaela Auer-Grumbach
Nov 2, 2014·Genes to Cells : Devoted to Molecular & Cellular Mechanisms·Li JiangYukio Fujiki
Nov 13, 2004·FEMS Microbiology Reviews·Juliette MoyersoenPaul A M Michels
Oct 24, 2006·Biochimica Et Biophysica Acta·Steven J SteinbergHugo W Moser
Oct 19, 2006·Biochimica Et Biophysica Acta·Yukio FujikiKamran Ghaedi
Aug 9, 2012·Biochimica Et Biophysica Acta·Hans R Waterham, Merel S Ebberink
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Feb 1, 2003·Biochemical and Biophysical Research Communications·Atsushi TanakaYukio Fujiki
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Dec 13, 2016·Proceedings of the Japan Academy. Series B, Physical and Biological Sciences·Yukio Fujiki
Jun 10, 2000·Molecular Biology of the Cell·K GhaediY Fujiki
Sep 12, 2002·The Journal of Biological Chemistry·Masanori HonshoYukio Fujiki
Apr 30, 2003·Nature Cell Biology·Naomi MatsumotoYukio Fujiki
Oct 23, 2003·European Journal of Human Genetics : EJHG·Jeannette GootjesRonald J A Wanders
Apr 12, 2013·Genes to Cells : Devoted to Molecular & Cellular Mechanisms·Masafumi NoguchiYukio Fujiki

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