The genetics of peroxisome biogenesis

Annual Review of Genetics

Volumn 34, Issue , 2000, Pages 623-652

  Sacksteder, K A ^a   Gould, S J ^a  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Organelle assembly; Peroxins; pex genes; Protein import; Zellweger syndrome

Indexed keywords

MEMBRANE PROTEIN; PEROXISOME MEMBRANE PROTEIN; UNCLASSIFIED DRUG;

BIOGENESIS; GENETIC ANALYSIS; HUMAN; LIPID TRANSPORT; MEMBRANE TRANSPORT; NONHUMAN; PEROXISOME; PRIORITY JOURNAL; PROTEIN TRANSPORT; REVIEW;

ANIMALS; HUMANS; PEROXISOMES; PROTEIN TRANSPORT; PROTEINS;

EUKARYOTA;

EID: 0034515057     PISSN: 00664197     EISSN: None     Source Type: Book Series    
DOI: 10.1146/annurev.genet.34.1.623     Document Type: Review

References (165)

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5. The Hansenula polymorpha PER9 gene encodes a peroxisomal membrane protein essential for peroxisome assembly and integrity
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7. RING domains: Master builders of molecular scaffolds?
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9. Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata
10. The tetratricopeptide repeat-domain of the PAS10 protein of Saccharomyces cerevisiae is essential for binding the peroxisomal targeting signal-SKL
11. Mutants of the Yarrowia lipolytica PEX23 gene encoding an integral peroxisomal membrane peroxin mislocalize matrix proteins and accumulate vesicles containing peroxisomal matrix and membrane proteins
12. Isolation of the human PEX12 gene, mutated in group 3 of the peroxisome biogenesis disorders
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15. Identification of a common mutation in severely affected PEX1-deficient patients
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28. Multiple PEX genes are required for proper subcellular distribution and stability of Pex5p, the PTS1 receptor: Evidence that PTS 1 protein import is mediated by a cycling receptor
29. The sorting sequence of the peroxisomal integral membrane protein PMP47 is contained within a short hydrophilic loop
30. The Yarrowia lipolytica gene PAY2 encodes a 42-kDa peroxisomal integral membrane protein essential for matrix protein import and peroxisome enlargement but not for peroxisome membrane proliferation
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32. The SH3 domain of the Saccharomyces cerevisiae peroxisomal membrane protein Pex13p functions as a docking site for Pex5p, a mobile receptor for the import of PTS1 containing proteins
33. Over-expression of Pex15p, a phosphorylated peroxisomal integral membrane protein required for peroxisome assembly in S. cerevisiae, causes proliferation of the endoplasmic reticulum membrane
34. An efficient positive selection procedure for the isolation of peroxisomal import and peroxisome assembly mutants of Saccharomyces cerevisiae
35. Giant peroxisomes in oleic acid-induced Saccharomyces cerevisiae lacking the peroxisomal membrane protein Pmp27p
36. Identification of Pex13p, a peroxisomal membrane receptor for the PTS1 recognition factor
37. Isolation of peroxisome-deficient mutants of Saccharomyces cerevisiae
38. PAS1, a yeast gene required for peroxisome biogenesis, encodes a member of a novel family of putative ATPases
39. Two AAA family proteins, PpPex1 p and PpPex6p, interact with each other in an ATP-dependent manner and are associated with different subcellular membranous structures distinct from peroxisomes
40. Mutations in the gene encoding peroxisomal alpha-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy
41. Identification of a human PTS1 receptor docking protein directly required for peroxisomal protein import
42. Synthesis of a major integral membrane polypeptide of rat liver peroxisomes on free polysomes
43. Human peroxisome assembly factor-2 (PAF-2): Gene responsible for group C peroxisome biogenesis disorder in humans
44. A proposed model for the PEX5-peroxisomal targeting signal-1 recognition complex
45. Peroxisomal targeting signal-1 recognition by the TPR domains of human PEX5
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47. Characterization of PECI, a novel monofunctional delta3, delta2-enoyl-CoA isomerase of mammalian peroxisomes
48. 2-enoyl-CoA isomerase
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50. Saccharomyces cerevisiae peroxisomal thiolase is imported as a dimer
51. Pex 19p, a farnesylated protein essential for peroxisome biogenesis
52. PEX13p is an SH3 protein in the peroxisome membrane and a docking factor for the PTS1 receptor
53. Identification of peroxisomal targeting signals at the carboxy-terminus of four peroxisomal proteins
54. A conserved tripeptide sorts proteins to peroxisomes
55. Identification of a peroxisomal targeting signal at the carboxy terminus of firefly luciferase
56. Development of the yeast Pichia pastoris as a model organism for a genetic and molecular analysis of peroxisome assembly
57. Peroxisome biogenesis disorders: Genetics and cell biology
58. Targeting sequences of the major peroxisomal proteins in the methylotrophic yeast Hansenula polymorpha
59. IDP3 encodes a peroxisomal NADP-dependent isocitrate dehydrogenase required for the b-oxidation of unsaturated fatty acids
60. Saccharomyces cerevisiae pex3p and pex19p are required for proper localization and stability of peroxisomal membrane proteins
61. The cytosolic DnaJ-like protein djp 1p is involved specifically in peroxisomal protein impor
62. Mutation in PEX16 is causal in the peroxisome-deficient Zellweger syndrome of complementation group D
63. A missense mutation in the RING finger motif of PEX2 protein disturbs the import of peroxisome targeting signal 1 (PTS1)-containing protein but not the PTS2-containing protein
64. Pex17p of Saccharomyces cerevisiae is a novel peroxin and component of the peroxisomal protein translocation machinery
65. Insertion of the 70-kDa peroxisomal membrane protein into peroxisomal membranes in vivo and in vitro
66. PxF, a prenylated protein of peroxisomes
67. Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene
68. Identification and characterization of HAOX1, HAOX2, and HAOX3, three human peroxisomal 2-hydroxy acid oxidases
69. Identification of peroxisomal acyl-CoA thioesterases in yeast and humans
70. Characterization of a novel component of the peroxisomal protein import apparatus using fluorescent peroxisomal proteins
71. Formation of the peroxisome lumen is abolished by loss of Pichia pastoris Pas7p, a zinc-binding integral membrane protein of the peroxisome
72. Genomic organization and molecular characterization of a gene encoding HsPXF, a human peroxisomal farnesylated protein
73. Cloning and characterization of the gene encoding the human peroxisomal assembly protein Pex3p
74. Hansenula polymorpha Pex1p and Pex6p are peroxisome-associated AAA proteins that functionally and physically interact
75. Pex22p of Pichia pastoris, essential for peroxisomal matrix protein import, anchors the ubiquitin-conjugating enzyme, Pex4p, on the peroxisomal membrane
76. The Hansenula polymorpha PEX14 gene encodes a novel peroxisomal membrane protein essential for peroxisome biogenesis
77. The difference in recognition of terminal tripeptides as peroxisomal targeting signal 1 between yeast and human is due to different affinities of their receptor Pex5p to the cognate signal and to residues adjacent to it
78. Biogenesis of peroxisomes
79. Disorders of peroxisome biogenesis
80. PER3, a gene required for peroxisome biogenesis in Pichia pastoris, encodes a peroxisomal membrane protein involved in protein import
81. An efficient screen for peroxisome-deficient mutants of Pichia pastoris
82. PEX13 is mutated in complementation group 13 of the peroxisome biogenesis disorders
83. Pmp27 promotes peroxisomal proliferation
84. PAS7 encodes a novel yeast member of the WD-40 protein family essential for import of 3-oxoacyl-CoA thiolase, a PTS2-containing protein, into peroxisomes
85. Disruption of interaction of the longer isoform of Pex5p, Pex5pL, with Pex7p abolishes the PTS2 protein import in mammals. Study with a novel PEX5-impaired Chinese hamster ovary cell mutant
86. Human PEX19: cDNA cloning by functional complementation, mutation analysis in a patient with Zellweger syndrome, and potential role in peroxisomal membrane assembly
87. A common PEX1 frameshift mutation in patients with disorders of peroxisome biogenesis correlates with the severe Zellweger syndrome phenotype
88. An internal region of the peroxisomal membrane protein PMP47 is essential for sorting to peroxisomes
89. The pas8 mutant of Pichia pastoris exhibits the peroxisomal protein import deficiencies of Zellweger syndrome cells. The PAS8 protein binds to the COOH-terminal tripeptide peroxisomal targeting signal and is a member of the TPR protein family
90. An oligomeric protein is imported into peroxisomes in vivo
91. Identification of PAHX as a Refsum disease gene
92. X-linked adrenoleukodystrophy
93. Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters
94. The gene responsible for adrenoleukodystrophy encodes a peroxisomal membrane protein
95. Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor
96. The endoplasmic reticulum in the Golgi zone and its relations to microbodies, Golgi apparatus and autophagic vacuoles in rat liver cells
97. Rapid identification and characterization of peroxisomal assembly mutants in Yarrowia lipolytica
98. Molecular anatomy of the peroxin Pex12p: RING finger domain is essential for the Pex12p function and interacts with the peroxisome targeting signal type 1-receptor Pex5p and a RING peroxin, Pex10p
99. Mutations in PEX10 is the cause of Zellweger peroxisome deficiency syndrome of complemenration group B
100. 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
101. The mammalian peroxin Pex5pL, the longer isoform of mobile PTS 1-transporter, translocates Pex7p-PTS2 protein complex into peroxisomes via its initial docking site Pex14p
102. Peroxisome targeting signal type-1 (PTS1) receptor is involved in import of both PTS1 and PTS2: Studies with PEX5-defective CHO cell mutants
103. Peroxisome biogenesis: Involvement of ARF and coatomer
104. Targeting of the 22 kDa integral peroxisomal membrane protein
105. Human PEX1 is mutated in complementation group 1 of the peroxiosme biogenesis disorders
106. Targeting of human catalase to peroxisomes is dependent upon a novel COOH-terminal peroxisomal targeting signal
107. Pex18p and Pex21p, a novel pair of related peroxins essential for peroxisomal targeting by the PTS2 pathway
108. Rhizomelic chondrodysplasia punctata is caused by deficiency of human PEX7 a homologue of the yeast PTS2 receptor
109. Peroxisome proliferator-induced pleiotropic response: Pursuit of a phenomenon
110. The import receptor for the peroxisomal targeting signal 2 (PTS2) Saccharomyces cerevisiae is encoded by the PAS7 gene
111. Pex8p, an intraperoxisomal peroxin of Saccharomyces cerevisiae required for protein transport into peroxisomes binds the PTS 1 receptor pex5p
112. Mutations in PEX1 are the most common cause of the peroxisome biogenesis disorders
113. PEX19 binds multiple peroxisomal membrane proteins, is predominantly cytoplasmic, and is required for peroxisome membrane synthesis
114. The Candida boidinii peroxisomal membrane protein Pmp30 has a role in peroxisomal proliferation and is functionally homologous to Pmp27 from Saccharomyces cerevisiae
115. Brefeldin A interferes with peroxisomal protein sorting in the yeast Hansenula polymorpha
116. Peroxisome membrane ghosts in Zellweger syndrome - Aberrant organelle assembly
117. Peroxisomal integral membrane proteins in control and Zellweger fibroblasts
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120. Expression of PEX11b mediates peroxisome proliferation in the absence of extracellular stimuli
121. The peroxin Pex14p. cDNA cloning by functional complementation on a Chinese hamster ovary cell mutant, characterization, and functional analysis
122. Nonsense and temperature-sensitive mutations in PEX13 are the cause of complementation group H of peroxisome biogenesis disorders
123. Genetic basis of peroxisome-assembly mutants of humans, Chinese hamster ovary cells, and yeast: Identification of a new complementation group of peroxisomebiogenesis disorders apparently lacking peroxisomal-membrane ghosts
124. A human gene responsible for Zellweger syndrome that affects peroxisome assembly
125. Identification of three distinct peroxisomal protein import defects in patients with peroxisomal biogenesis disorders
126. The peroxin Pex17p of the yeast Yarrowia lipolytica is associated peripherally with the peroxisomal membrane and is required for the import of a subset of matrix proteins
127. PEX19 interacts with Pex3p and Pex10p and is essential for peroxisome biogenesis in Pichia pastoris
128. Pex17p is required for import of both peroxisome membrane and lumenal proteins and interacts with Pex19p and the peroxisome targeting signal-receptor docking complex in Pichia pastoris
129. The peroxin Pex 19p interacts with multiple, integral membrane proteins at the peroxisomal membrane
130. Identification and characterization of the human peroxin PEX3
131. Peroxisome synthesis in the absence of pre-existing peroxisomes
132. Inhibitors of COPI and COPII do not block PEX3-mediated peroxisome synthesis
133. Cloning and characterization of PAS5: A gene required for peroxisome biogenesis in the methylotrophic yeast Pichia pastoris
134. Refsum disease
135. Protein import into peroxisomes and biogenesis of the organelle
136. A novel, cleavable peroxisomal targeting signal at the amino-terminus of the rat 3-ketoacyl-CoA thiolase
137. Pay32p of the yeast Yarrowia lipolytica is an intraperoxisomal component of the matrix protein translocation machinery
138. Human PEX1 cloned by functional complementation on a CHO cell mutant is responsible for peroxisome-deficient Zellweger syndrome of complementation group I
139. A cytoplasmic AAA family peroxin, Pex1p, interacts with Pex6p
140. The Pichia pastoris peroxisomal protein Pas8p is the receptor for the C-terminal tripeptide peroxisomal targeting signal
141. Fusion of small peroxisomal vesicles in vitro reconstructs an early step in the in vivo multistep peroxisome assembly pathway of Yarrowia lipolytica
142. Four distinct secretory pathways serve protein secretion, cell surface growth, and peroxisome biogenesis in the yeast Yarrowia lipolytica
143. The endoplasmic reticulum plays an essential role in peroxisome biogenesis
144. Mutants of the yeast Yarrowia lipolytica defective in protein export exit from the endoplasmic reticulum are also defective in peroxisome biogenesis
145. Pex20p of the yeast Yarrowia lipolytica is required for the oligomerization of thiolase in the cytosol and for its targeting to the peroxisome
146. Metabolic pathways in peroxisomes and glyoxysomes
147. The ubiquitin-conjugating enzyme Pex4p of Hansenula polymorpha is required for efficient functioning of the PTS1 import machinery
148. The Hansenulapolymorpha PER3 gene is essential for the import of PTS 1 proteins into the peroxisomal matrix
149. The membrane of peroxisomes in Saccharomyces cerevisiae is impermeable to NAD(H) and acetyl-CoA under in vivo conditions
150. Peroxisomal B-oxidation of polyunsaturated fatty acids in Saccharomyces cerevisiae: Isocitrate dehydrogenase provides NADPH for reduction of double bonds at even positions
151. Import of stably folded proteins into peroxisomes
152. Lipid metabolism in peroxisomes in relation to human disease
153. Identification of PEX10, the gene defective in complementation group 7 of the peroxisome-biogenesis disorders
154. The Pichia pastoris PER6 gene product is a peroxisomal integral membrane protein essential for peroxisome biogenesis and has sequence similarity to the Zellweger syndrome protein PAF-1
155. The Hansenula polymorpha PER1 gene is essential for peroxisomal matrix protein with both carboxy- and amino-terminal targeting signals
156. The Pas2 protein essential for peroxisome biogenesis is related to ubiquitin-conjugating enzymes
157. Isolation and characterization of Pas2p, a peroxisomal membrane protein essential for peroxisome biogenesis in the methylotrophic yeast Pichia pastoris
158. Human peroxisomal targeting signal-1 receptor restores peroxisomal protein import in cells from patients with fatal peroxisomal disorders
159. Identification and characterization of the human orthologue of yeast Pex14p
160. Functional characterization of the S. cerevisiae genome by gene deletion and parallel analysis
161. The peroxisome biogenesis disorder group 4 gene, PXAAA1, encodes a cytoplasmic ATPase required for stability of the PTS1 receptor
162. Peb1p (Pas7p) is an intraperoxisomal receptor for the NH2-terminal, type 2, peroxisomal targeting sequence of thiolase: Peblp itself is targeted to peroxisomes by an NH2-terminal peptide
163. PEB1 (PAS7) in Saccharomyces cerevisiae encodes a hydrophilic, intra-peroxisomal protein that is a member of the WD repeat family and is essential for the import of thiolase into peroxisomes