Biomaterial Database

[Human peroxisome-deficient disorders and pathogenic gene]. 1994

Y Fujiki

Department of Biology, Faculty of Science, Kyushu University.

Peroxisome is a model organelle to investigate the mechanism of protein translocation and organelle assembly. Human autosomal recessive peroxisomal disorders are of clinical consequence and a model system to study the biogenesis and physiological significance of peroxisomes. In patients with generalized peroxisomal disease such as cerebrohepatorenal Zellweger syndrome where peroxisomes are morphologically absent, all peroxisomal proteins appear to be normally synthesized but assembly of peroxisomes is impaired. Thus far, nine complementation groups have been reported for these peroxisome-deficient disorders including Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum disease. To investigate the molecular mechanism of peroxisome biogenesis and the primary defect of peroxisomal disorders, we have thus far isolated three different complementation groups of Chinese hamster ovary (CHO) cell mutants defective in biogenesis of peroxisomes. By genetic functional complementation analysis following the transfection of cDNA library to one of these cell mutants, Z65, we identified 35-kDa peroxisome assembly factor-1 (PAF-1) essential for peroxisome assembly. Moreover, we delineated the primary defect in a Zellweger patient who belonged to the same complementation group as Z65. The cause of this syndrome was a homozygous nonsense point mutation at 119Arg in PAF-1 gene. Comparison of PAF-1 sequences from rat, human, and Chinese hamster revealed that PAF-1 is highly conserved through the evolution and contains a novel cysteine-rich zinc finger, RING finger motif.

UI	MeSH Term	Description	Entries
D007231	Infant, Newborn	An infant during the first 28 days after birth.	Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
D008565	Membrane Proteins	Proteins which are found in membranes including cellular and intracellular membranes. They consist of two types, peripheral and integral proteins. They include most membrane-associated enzymes, antigenic proteins, transport proteins, and drug, hormone, and lectin receptors.	Cell Membrane Protein,Cell Membrane Proteins,Cell Surface Protein,Cell Surface Proteins,Integral Membrane Proteins,Membrane-Associated Protein,Surface Protein,Surface Proteins,Integral Membrane Protein,Membrane Protein,Membrane-Associated Proteins,Membrane Associated Protein,Membrane Associated Proteins,Membrane Protein, Cell,Membrane Protein, Integral,Membrane Proteins, Integral,Protein, Cell Membrane,Protein, Cell Surface,Protein, Integral Membrane,Protein, Membrane,Protein, Membrane-Associated,Protein, Surface,Proteins, Cell Membrane,Proteins, Cell Surface,Proteins, Integral Membrane,Proteins, Membrane,Proteins, Membrane-Associated,Proteins, Surface,Surface Protein, Cell
D008830	Microbodies	Electron-dense cytoplasmic particles bounded by a single membrane, such as PEROXISOMES; GLYOXYSOMES; and glycosomes.	Glycosomes,Glycosome,Microbody
D008969	Molecular Sequence Data	Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.	Sequence Data, Molecular,Molecular Sequencing Data,Data, Molecular Sequence,Data, Molecular Sequencing,Sequencing Data, Molecular
D009154	Mutation	Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.	Mutations
D012035	Refsum Disease	An autosomal recessive familial disorder that usually presents in childhood with POLYNEUROPATHY; SENSORINEURAL HEARING LOSS; ICHTHYOSIS; ATAXIA; RETINITIS PIGMENTOSA; and CARDIOMYOPATHIES. (From Joynt, Clinical Neurology, 1991, Ch37, p58-9; Rev Med Interne 1996;17(5):391-8) This condition can be caused by mutation in the genes encoding peroxisomal phytanoyl-CoA hydroxylase or proteins associated peroxisomal membrane, leading to impaired catabolism of PHYTANIC ACID in PEROXISOMES.	HMSN Type IV,Heredopathia Atactica Polyneuritiformis,Neuropathy, Hereditary Motor and Sensory, Type IV,Phytanic Acid Storage Disease,Adult Refsum Disease,Classic Refsum Disease,HMSN 4,HMSN IV,Hemeralopia Heredoataxia Polyneuritiformis,Hereditary Motor And Sensory Neuropathy IV,Hereditary Motor and Sensory Neuropathy Type IV,Hereditary Motor and Sensory Neuropathy, Type IV,Hereditary Type IV Motor and Sensory Neuropathy,Phytanic Acid Oxidase Deficiency,Refsum Disease, Adult,Refsum Disease, Classic,Refsum Disease, Phytanic Acid Oxidase Deficiency,Refsum Disease, Phytanoyl-CoA Hydroxylase Deficiency,Refsum Syndrome,Refsum's Disease,Refsum's Syndrome,Refsum-Thiebaut Syndrome,Adult Refsum Diseases,Classic Refsum Diseases,Disease, Adult Refsum,Disease, Classic Refsum,Disease, Refsum,Disease, Refsum's,Diseases, Adult Refsum,Diseases, Classic Refsum,HMSN IVs,Heredoataxia Polyneuritiformis, Hemeralopia,Polyneuritiformis, Hemeralopia Heredoataxia,Polyneuritiformis, Heredopathia Atactica,Refsum Disease, Phytanoyl CoA Hydroxylase Deficiency,Refsum Diseases, Adult,Refsum Diseases, Classic,Refsum Thiebaut Syndrome,Refsum-Thiebaut Syndromes,Refsums Disease,Refsums Syndrome,Syndrome, Refsum,Syndrome, Refsum's,Syndrome, Refsum-Thiebaut,Syndromes, Refsum-Thiebaut
D003412	Cricetulus	A genus of the family Muridae consisting of eleven species. C. migratorius, the grey or Armenian hamster, and C. griseus, the Chinese hamster, are the two species used in biomedical research.	Hamsters, Armenian,Hamsters, Chinese,Hamsters, Grey,Armenian Hamster,Armenian Hamsters,Chinese Hamster,Chinese Hamsters,Grey Hamster,Grey Hamsters,Hamster, Armenian,Hamster, Chinese,Hamster, Grey
D006224	Cricetinae	A subfamily in the family MURIDAE, comprising the hamsters. Four of the more common genera are Cricetus, CRICETULUS; MESOCRICETUS; and PHODOPUS.	Cricetus,Hamsters,Hamster
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000074428	Peroxisomal Biogenesis Factor 2	A multi-pass transmembrane protein that contains a C-terminal RING finger domain. It localizes to the PEROXISOME membrane and is essential for peroxisome biogenesis. Mutations in the PEX2 gene are associated with ZELLWEGER SYNDROME and INFANTILE REFSUM DISEASE.	PMP35,Peroxin-2,Peroxisomal Membrane Protein 35,Peroxisome Assembly Factor-1,Peroxisome Biogenesis Factor 2,Peroxin 2,Peroxisome Assembly Factor 1