PMID- 10528859
OWN - NLM
STAT- MEDLINE
DCOM- 19991119
LR  - 20190503
IS  - 0022-2593 (Print)
IS  - 0022-2593 (Linking)
VI  - 36
IP  - 10
DP  - 1999 Oct
TI  - Defective PEX gene products correlate with the protein import, biochemical
      abnormalities, and phenotypic heterogeneity in peroxisome biogenesis disorders.
PG  - 779-81
AB  - Peroxisome biogenesis disorders (PBD) comprise three phenotypes including
      Zellweger syndrome (ZS) (the most severe), neonatal adrenoleucodystrophy, and
      infantile Refsum disease (IRD) (the most mild), and can be classified into at
      least 12 genetic complementation groups, which are not predictive of the
      phenotypes. Several pathogenic genes for PBD groups have been identified, but the
      relationship between the defective gene products and phenotypic heterogeneity has
      remained unclear. We identified a mutation in the PEX2 gene in an IRD patient
      with compound heterozygosity for a missense mutation and the known nonsense
      mutation detected in ZS patients. In transfection experiments using the
      peroxisome deficient CHO mutant, Z65 with a nonsense mutation in the PEX2 gene,
      we noted the E55K mutation had mosaic activities of peroxisomal protein import
      machinery and residual activities of peroxisomal functions, including
      dihydroxyacetone phosphate acyltransferase and beta oxidation of very long chain 
      fatty acids. The nonsense mutation severely affects these peroxisomal functions
      as well as the protein import. These data suggest that allelic heterogeneity of
      the PEX gene affects the peroxisomal protein import and functions and regulates
      the clinical severity in PBD.
FAU - Shimozawa, N
AU  - Shimozawa N
AD  - Department of Paediatrics, Gifu University School of Medicine, Japan.
FAU - Imamura, A
AU  - Imamura A
FAU - Zhang, Z
AU  - Zhang Z
FAU - Suzuki, Y
AU  - Suzuki Y
FAU - Orii, T
AU  - Orii T
FAU - Tsukamoto, T
AU  - Tsukamoto T
FAU - Osumi, T
AU  - Osumi T
FAU - Fujiki, Y
AU  - Fujiki Y
FAU - Wanders, R J
AU  - Wanders RJ
FAU - Besley, G
AU  - Besley G
FAU - Kondo, N
AU  - Kondo N
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - J Med Genet
JT  - Journal of medical genetics
JID - 2985087R
RN  - 0 (Membrane Proteins)
RN  - 0 (PEX2 protein, human)
RN  - 135847-86-8 (Peroxisomal Biogenesis Factor 2)
RN  - EC 1.11.1.6 (Catalase)
SB  - IM
MH  - Catalase/metabolism
MH  - Child, Preschool
MH  - DNA Mutational Analysis
MH  - Female
MH  - Fibroblasts/enzymology
MH  - Fluorescent Antibody Technique
MH  - Humans
MH  - Infant
MH  - Male
MH  - Membrane Proteins/*genetics
MH  - Mutation
MH  - Peroxisomal Biogenesis Factor 2
MH  - Peroxisomal Disorders/*genetics
MH  - Phenotype
MH  - Temperature
MH  - Transfection
MH  - Zellweger Syndrome/genetics
PMC - PMC1734244
EDAT- 1999/10/21 00:00
MHDA- 1999/10/21 00:01
CRDT- 1999/10/21 00:00
PHST- 1999/10/21 00:00 [pubmed]
PHST- 1999/10/21 00:01 [medline]
PHST- 1999/10/21 00:00 [entrez]
AID - 10.1136/jmg.36.10.779 [doi]
PST - ppublish
SO  - J Med Genet. 1999 Oct;36(10):779-81. doi: 10.1136/jmg.36.10.779.