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2016 ; 92
(10
): 463-477
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Peroxisome biogenesis and human peroxisome-deficiency disorders
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Fujiki Y
Proc Jpn Acad Ser B Phys Biol Sci
2016[]; 92
(10
): 463-477
PMID27941306
show ga
Peroxisome is a single-membrane-bounded ubiquitous organelle containing a hundred
different enzymes that catalyze various metabolic pathways such as ?-oxidation of
very long-chain fatty acids and synthesis of plasmalogens. To investigate
peroxisome biogenesis and human peroxisome biogenesis disorders (PBDs) including
Zellweger syndrome, more than a dozen different complementation groups of Chinese
hamster ovary (CHO) cell mutants impaired in peroxisome biogenesis are isolated
as a model experimental system. By taking advantage of rapid functional
complementation assay of the CHO cell mutants, successful cloning of PEX genes
encoding peroxins required for peroxisome assembly invaluably contributed to the
accomplishment of cloning of pathogenic genes responsible for PBDs. Peroxins are
divided into three groups: 1) peroxins including Pex3p, Pex16p and Pex19p, are
responsible for peroxisome membrane biogenesis via Pex19p- and Pex3p-dependent
class I and Pex19p- and Pex16p-dependent class II pathways; 2) peroxins that
function in matrix protein import; 3) those such as Pex11p? are involved in
peroxisome division where DLP1, Mff, and Fis1 coordinately function.