Human Molecular Genetics, Vol 7, 1399-1405, Copyright © 1998 by Oxford University Press
K Okumoto, R Itoh, N Shimozawa, Y Suzuki, S Tamura, N Kondo and Y Fujiki
Peroxisome biogenesis disorders (PBD), such as Zellweger syndrome, are
autosomal recessive diseases caused by a deficiency in peroxisome assembly
as well as a malfunction of the peroxisomes, where at least 10 genotypes
have been reported. We have isolated a human PEX10 cDNA (HsPEX10) by an
expressed sequence tag homology search on a human DNA database using yeast
PEX10 from Hansenula polymorpha, followed by screening of a human liver
cDNA library. This cDNA encodes a peroxisomal protein (a peroxin Pex10p)
comprising 326 amino acids, with two putative transmembrane segments and a
C3HC4zinc finger RING motif. Both the N- and C-terminal regions of Pex10p
are exposed to the cytosol, as assessed by an expression study of
epitope-tagged Pex10p. HsPEX10 expression morphologically and biochemically
restored peroxisome biogenesis in fibroblasts from Zellweger patients of
complementation group B in Japan (complementation group VII in the USA).
One patient (PBDB-01) possessed a homozygous, inactivating mutation, a 2 bp
deletion immediately upstream of the RING motif, which resulted in a
frameshift, altering 65 amino acids from the normal. This implies that the
C-terminal part, including the RING finger, is required for biological
function of Pex10p. PEX10 cDNA derived from patient PBDB-01 was defective
in peroxisome-restoring activity when expressed in patient fibroblasts.
These results demonstrate that mutation in PEX10 is the genetic cause of
complementation group B PBD.
ARTICLES
Mutations in PEX10 is the cause of Zellweger peroxisome deficiency syndrome of complementation group B
Department of Biology, Faculty of Science, Kyushu University, 6-10-1 Hakozaki, Higashi-ku, Fukuoka 812-8581, Japan.
CiteULike 
Connotea 
Del.icio.us What's this?
This article has been cited by other articles:
|
|
 |
|
  T. Saveria, A. Halbach, R. Erdmann, R. Volkmer-Engert, C. Landgraf, H. Rottensteiner, and M. Parsons Conservation of PEX19-Binding Motifs Required for Protein Targeting to Mammalian Peroxisomal and Trypanosome Glycosomal Membranes Eukaryot. Cell, August 1, 2007; 6(8): 1439 - 1449. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 Y. Matsuzono, T. Matsuzaki, and Y. Fujiki Functional domain mapping of peroxin Pex19p: interaction with Pex3p is essential for function and translocation J. Cell Sci., September 1, 2006; 119(17): 3539 - 3550. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 R. Ito, M. Morita, N. Takahashi, N. Shimozawa, N. Usuda, T. Imanaka, and M. Ito Identification of Pex5pM, and Retarded Maturation of 3-Ketoacyl-CoA Thiolase and Acyl-CoA Oxidase in CHO Cells Expressing Mutant Pex5p Isoforms J. Biochem., December 1, 2005; 138(6): 781 - 790. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 I. A. Sparkes, C. Hawes, and A. Baker AtPEX2 and AtPEX10 Are Targeted to Peroxisomes Independently of Known Endoplasmic Reticulum Trafficking Routes Plant Physiology, October 1, 2005; 139(2): 690 - 700. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 H Rosewich, A Ohlenbusch, and J Gartner Genetic and clinical aspects of Zellweger spectrum patients with PEX1 mutations J. Med. Genet., September 1, 2005; 42(9): e58 - e58. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
I. A. Sparkes, F. Brandizzi, S. P. Slocombe, M. El-Shami, C. Hawes, and A. Baker An Arabidopsis pex10 Null Mutant Is Embryo Lethal, Implicating Peroxisomes in an Essential Role during Plant Embryogenesis Plant Physiology, December 1, 2003; 133(4): 1809 - 1819. [Abstract] [Full Text]
|
|
|
|
|
|
J. H. Eckert and N. Johnsson Pex10p links the ubiquitin conjugating enzyme Pex4p to the protein import machinery of the peroxisome J. Cell Sci., September 1, 2003; 116(17): 3623 - 3634. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 S. D. Dyall, D. C. Lester, R. E. Schneider, M. G. Delgadillo-Correa, E. Plumper, A. Martinez, C. M. Koehler, and P. J. Johnson Trichomonas vaginalis Hmp35, a Putative Pore-forming Hydrogenosomal Membrane Protein, Can Form a Complex in Yeast Mitochondria J. Biol. Chem., August 15, 2003; 278(33): 30548 - 30561. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 U. Schumann, G. Wanner, M. Veenhuis, M. Schmid, and C. Gietl AthPEX10, a nuclear gene essential for peroxisome and storage organelle formation during Arabidopsis embryogenesis PNAS, August 5, 2003; 100(16): 9626 - 9631. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
M. Honsho, T. Hiroshige, and Y. Fujiki The Membrane Biogenesis Peroxin Pex16p. TOPOGENESIS AND FUNCTIONAL ROLES IN PEROXISOMAL MEMBRANE ASSEMBLY J. Biol. Chem., November 8, 2002; 277(46): 44513 - 44524. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 R. G. Gardner, G. M. Swarbrick, N. W. Bays, S. R. Cronin, S. Wilhovsky, L. Seelig, C. Kim, and R. Y. Hampton Endoplasmic Reticulum Degradation Requires Lumen to Cytosol Signaling: Transmembrane Control of Hrd1p by Hrd3p J. Cell Biol., October 2, 2000; 151(1): 69 - 82. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 M. Aguilera, M. Oliveros, M. Martínez-Padrón, J. A. Barbas, and A. Ferrús Ariadne-1: A Vital Drosophila Gene Is Required in Development and Defines a New Conserved Family of RING-Finger Proteins Genetics, July 1, 2000; 155(3): 1231 - 1244. [Abstract] [Full Text]
|
|
|
|
 |
|
 K. Ghaedi, S. Tamura, K. Okumoto, Y. Matsuzono, and Y. Fujiki The Peroxin Pex3p Initiates Membrane Assembly in Peroxisome Biogenesis Mol. Biol. Cell, June 1, 2000; 11(6): 2085 - 2102. [Abstract] [Full Text]
|
|
|
|
|
|
C.-C. Chang, D. S. Warren, K. A. Sacksteder, and S. J. Gould Pex12 Interacts with Pex5 and Pex10 and Acts Downstream of Receptor Docking in Peroxisomal Matrix Protein Import J. Cell Biol., November 15, 1999; 147(4): 761 - 774. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
N. Shimizu, R. Itoh, Y. Hirono, H. Otera, K. Ghaedi, K. Tateishi, S. Tamura, K. Okumoto, T. Harano, S. Mukai, et al. The Peroxin Pex14p. cDNA CLONING BY FUNCTIONAL COMPLEMENTATION ON A CHINESE HAMSTER OVARY CELL MUTANT, CHARACTERIZATION, AND FUNCTIONAL ANALYSIS J. Biol. Chem., April 30, 1999; 274(18): 12593 - 12604. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
Y. Matsuzono, N. Kinoshita, S. Tamura, N. Shimozawa, M. Hamasaki, K. Ghaedi, R. J. A. Wanders, Y. Suzuki, N. Kondo, and Y. Fujiki Human PEX19: cDNA cloning by functional complementation, mutation analysis in a patient with Zellweger syndrome, and potential role in peroxisomal membrane assembly PNAS, March 2, 1999; 96(5): 2116 - 2121. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
C. Chang, S South, D Warren, J Jones, A. Moser, H. Moser, and S. Gould Metabolic control of peroxisome abundance J. Cell Sci., January 5, 1999; 112(10): 1579 - 1590. [Abstract] [PDF]
|
|
|
|
|
|
H. Otera, T. Harano, M. Honsho, K. Ghaedi, S. Mukai, A. Tanaka, A. Kawai, N. Shimizu, and Y. Fujiki The Mammalian Peroxin Pex5pL, the Longer Isoform of the Mobile Peroxisome Targeting Signal (PTS) Type 1 Transporter, Translocates the Pex7p{middle dot}PTS2 Protein Complex into Peroxisomes via Its Initial Docking Site, Pex14p J. Biol. Chem., July 7, 2000; 275(28): 21703 - 21714. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
K. Okumoto, I. Abe, and Y. Fujiki Molecular Anatomy of the Peroxin Pex12p. RING FINGER DOMAIN IS ESSENTIAL FOR Pex12p FUNCTION AND INTERACTS WITH THE PEROXISOME-TARGETING SIGNAL TYPE 1-RECEPTOR Pex5p AND A RING PEROXIN, Pex10p J. Biol. Chem., August 11, 2000; 275(33): 25700 - 25710. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
K. N. Faber, A. M. Kram, M. Ehrmann, and M. Veenhuis A Novel Method to Determine the Topology of Peroxisomal Membrane Proteins in Vivo Using the Tobacco Etch Virus Protease J. Biol. Chem., September 21, 2001; 276(39): 36501 - 36507. [Abstract] [Full Text] [PDF]
|
|