Drosophila carrying Pex3 or Pex16 mutations are models of zellweger syndrome that reflect its symptoms associated with the absence of peroxisomes

PLoS ONE

Volumn 6, Issue 8, 2011, Pages

  Nakayama, Minoru ^a   Sato, Hiroyasu ^a   Okuda, Takayuki ^a   Fujisawa, Nao ^a   Kono, Nozomu ^b   Arai, Hiroyuki ^b   Suzuki, Emiko ^c   Umeda, Masato ^d   Ishikawa, Hiroyuki O ^a   Matsuno, Kenji ^a  

^a TOKYO UNIVERSITY OF SCIENCE   (Japan)

^b UNIVERSITY OF TOKYO   (Japan)

^c GRADUATE UNIVERSITY FOR ADVANCED STUDIES   (Japan)

^d KYOTO UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CELL CYCLE ARREST; CELL CYCLE PROGRESSION; CELL MATURATION; CHILD DEATH; CONTROLLED STUDY; CORRELATIONAL STUDY; DROSOPHILA; GENE DISRUPTION; GENE FUNCTION; GENE IDENTIFICATION; GERM CELL; HOMOZYGOSITY; LARVAL STAGE; LETHALITY; LIPID METABOLISM; LONGEVITY; MALE STERILITY; MARKER GENE; MOTOR DYSFUNCTION; MUTATIONAL ANALYSIS; NONHUMAN; PEROXISOME; PEX16 GENE; PEX3 GENE; SIGNAL TRANSDUCTION; SPERMATOCYTE; SYMPTOMATOLOGY; ZELLWEGER SYNDROME; ANIMAL; BRAIN; CELL LINE; DISEASE MODEL; ELECTRON MICROSCOPY; FEMALE; GENETICS; MALE; METABOLISM; MOTOR ACTIVITY; MUTATION; PHYSIOLOGY;

MAMMALIA;

DROSOPHILA PROTEIN; MEMBRANE PROTEIN;

ANIMALS; BRAIN; CELL LINE; DISEASE MODELS, ANIMAL; DROSOPHILA; DROSOPHILA PROTEINS; FEMALE; MALE; MEMBRANE PROTEINS; MICROSCOPY, ELECTRON; MOTOR ACTIVITY; MUTATION; PEROXISOMES; ZELLWEGER SYNDROME;

EID: 79961096053     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0022984     Document Type: Article

References (57)

1. Steinberg SJ, Dodt G, Raymond GV, Braverman NE, Moser AB, et al. (2006) Peroxisome biogenesis disorders. Biochim Biophys Acta 1763: 1733-1748.
2. Shimozawa N, (2007) Molecular and clinical aspects of peroxisomal diseases. J Inherit Metab Dis 30: 193-197.
3. Lazarow PW, Moser HW, (1994) Disorders of peroxisome biogenesis. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. McGraw Hill pp. 2287-2324 In The Metabolic and Molecular Basis of Inherited Disease,.
4. Faust PL, Hatten ME, (1997) Targeted deletion of the PEX2 peroxisome assembly gene in mice provides a model for Zellweger syndrome, a human neuronal migration disorder. J Cell Biol 139: 1293-1305.
5. Baes M, Gressens P, Baumgart E, Carmeliet P, Casteels M, et al. (1997) A mouse model for Zellweger syndrome. Nat Genet 17: 49-57.
6. Brites P, Motley AM, Gressens P, Mooyer PA, Ploegaert I, et al. (2003) Impaired neuronal migration and endochondral ossification in Pex7 knockout mice: a model for rhizomelic chondrodysplasia punctata. Hum Mol Genet 12: 2255-2267.
7. Maxwell M, Bjorkman J, Nguyen T, Sharp P, Finnie J, et al. (2003) Pex13 inactivation in the mouse disrupts peroxisome biogenesis and leads to a Zellweger syndrome phenotype. Mol Cell Biol 23: 5947-5957.
8. Dimmick JE, (1997) Pathology of peroxisomal disorders. In: Applegarth DA, Dimmick JE, Hall JG, editors. London, United Kingdom Chapman and Hall Medical pp. 211-232 In Organelle Diseases: Clinical Features, Diagnosis, Pathogenesis, and Management,.
9. Moser HW, (1999) Genotype-phenotype correlations in disorders of peroxisome biogenesis. Mol Genet Metab 68: 316-327.
10. Wanders RJ, Tager JM, (1998) Lipid metabolism in peroxisomes in relation to human disease. Mol Aspects Med 19: 69-154.
11. Lazarow PB, Fujiki Y, (1985) Biogenesis of peroxisomes. Annu Rev Cell Biol 1: 489-530.
12. Titorenko VI, Rachubinski RA, (1998) The endoplasmic reticulum plays an essential role in peroxisome biogenesis. Trends Biochem Sci 23: 231-233.
13. Motley AM, Hettema EH, (2007) Yeast peroxisomes multiply by growth and division. J Cell Biol 178: 399-410.
14. Hoepfner D, Schildknegt D, Braakman I, Philippsen P, Tabak HF, (2005) Contribution of the endoplasmic reticulum to peroxisome formation. Cell 122: 85-95.
15. Mullen RT, Lisenbee CS, Miernyk JA, Trelease RN, (1999) Peroxisomal membrane ascorbate peroxidase is sorted to a membranous network that resembles a subdomain of the endoplasmic reticulum. Plant Cell 11: 2167-2185.
16. Karnik SK, Trelease RN, (2005) Arabidopsis peroxin 16 coexists at steady state in peroxisomes and endoplasmic reticulum. Plant Physiol 138: 1967-1981.
17. Kim PK, Mullen RT, Schumann U, Lippincott-Schwartz J, (2006) The origin and maintenance of mammalian peroxisomes involves a de novo PEX16-dependent pathway from the ER. J Cell Biol 173: 521-532.
18. Titorenko VI, Mullen RT, (2006) Peroxisome biogenesis: the peroxisomal endomembrane system and the role of the ER. J Cell Biol 174: 11-17.
19. Schliebs W, Kunau WH, (2004) Peroxisome membrane biogenesis: the stage is set. Curr Biol 14: R397-399.
20. Fujiki Y, Matsuzono Y, Matsuzaki T, Fransen M, (2006) Import of peroxisomal membrane proteins: the interplay of Pex3p- and Pex19p-mediated interactions. Biochim Biophys Acta 1763: 1639-1646.
21. Matsuzaki T, Fujiki Y, (2008) The peroxisomal membrane protein import receptor Pex3p is directly transported to peroxisomes by a novel Pex19p- and Pex16p-dependent pathway. J Cell Biol 183: 1275-1286.
22. Subramani S, Koller A, Snyder WB, (2000) Import of peroxisomal matrix and membrane proteins. Annu Rev Biochem 69: 399-418.
23. Heiland I, Erdmann R, (2005) Biogenesis of peroxisomes. Topogenesis of the peroxisomal membrane and matrix proteins. Febs J 272: 2362-2372.
24. Chen H, Liu Z, Huang X, (2010) Drosophila models of peroxisomal biogenesis disorder: peroxins are required for spermatogenesis and very-long-chain fatty acid metabolism. Hum Mol Genet 19: 494-505.
25. Jones JM, Morrell JC, Gould SJ, (2004) PEX19 is a predominantly cytosolic chaperone and import receptor for class 1 peroxisomal membrane proteins. J Cell Biol 164: 57-67.
26. Gould SJ, Keller GA, Hosken N, Wilkinson J, Subramani S, (1989) A conserved tripeptide sorts proteins to peroxisomes. J Cell Biol 108: 1657-1664.
27. Brand AH, Perrimon N, (1993) Targeted gene expression as a means of altering cell fates and generating dominant phenotypes. Development 118: 401-415.
28. Beard ME, Holtzman E, (1987) Peroxisomes in wild-type and rosy mutant Drosophila melanogaster. Proc Natl Acad Sci U S A 84: 7433-7437.
29. Eitzen GA, Szilard RK, Rachubinski RA, (1997) Enlarged peroxisomes are present in oleic acid-grown Yarrowia lipolytica overexpressing the PEX16 gene encoding an intraperoxisomal peripheral membrane peroxin. J Cell Biol 137: 1265-1278.
30. Honsho M, Tamura S, Shimozawa N, Suzuki Y, Kondo N, et al. (1998) Mutation in PEX16 is causal in the peroxisome-deficient Zellweger syndrome of complementation group D. Am J Hum Genet 63: 1622-1630.
31. Shimozawa N, Suzuki Y, Zhang Z, Imamura A, Ghaedi K, et al. (2000) Identification of PEX3 as the gene mutated in a Zellweger syndrome patient lacking peroxisomal remnant structures. Hum Mol Genet 9: 1995-1999.
32. Reaume AG, Knecht DA, Chovnick A, (1991) The rosy locus in Drosophila melanogaster: xanthine dehydrogenase and eye pigments. Genetics 129: 1099-1109.
33. Moser HW, Moser AB, (1991) Measurements of saturated very long chain fatty acids in plasma. In: Hommes FE, editors. Wiley-Liss pp. 177-191 In Techniques in Diagnostic Human Biochemical Genetics.
34. Ganetzky B, Flanagan JR, (1978) On the relationship between senescence and age-related changes in two wild-type strains of Drosophila melanogaster. Exp Gerontol 13: 189-196.
35. Le Bourg E, Lints FA, (1992) Hypergravity and aging in Drosophila melanogaster. 4. Climbing activity. Gerontology 38: 59-64.
36. Koana T, Hotta Y, (1978) Isolation and characterization of flightless mutants in Drosophila melanogaster. J Embryol Exp Morphol 45: 123-143.
37. Hakeda S, Endo S, Saigo K, (2000) Requirements of Kettin, a giant muscle protein highly conserved in overall structure in evolution, for normal muscle function, viability, and flight activity of Drosophila. J Cell Biol 148: 101-114.
38. Tates AD, (1971) Cytodifferentiation during spermatogenesis in Drosophila melanogaster: an electron microscope study. Ph. D. thesis. Rijksuniversiteit, Leiden.
39. Hardy RW, Tokuyasu KT, Lindsley DL, (1981) Analysis of spermatogenesis in Drosophila melanogaster bearing deletions for Y-chromosome fertility genes. Chromosoma 83: 593-617.
40. Bonaccorsi S, Pisano C, Puoti F, Gatti M, (1988) Y chromosome loops in Drosophila melanogaster. Genetics 120: 1015-1034.
41. Saumweber H, Symmons P, Kabisch R, Will H, Bonhoeffer F, (1980) Monoclonal antibodies against chromosomal proteins of Drosophila melanogaster: establishment of antibody producing cell lines and partial characterization of corresponding antigens. Chromosoma 80: 253-275.
42. Kiel JA, Veenhuis M, van der Klei IJ, (2006) PEX genes in fungal genomes: common, rare or redundant. Traffic 7: 1291-1303.
43. Asheuer M, Bieche I, Laurendeau I, Moser A, Hainque B, et al. (2005) Decreased expression of ABCD4 and BG1 genes early in the pathogenesis of X-linked adrenoleukodystrophy. Hum Mol Genet 14: 1293-1303.
44. Platta HW, El Magraoui F, Baumer BE, Schlee D, Girzalsky W, et al. (2009) Pex2 and pex12 function as protein-ubiquitin ligases in peroxisomal protein import. Mol Cell Biol 29: 5505-5516.
45. Olivieri G, Olivieri A, (1965) Autoradiographic study of nucleic acid synthesis during spermatogenesis in Drosophila melanogaster. Mutat Res 2: 366-380.
46. Brink NG, (1968) Protein synthesis during spermatogenesis in Drosophila melanogaster. Mutat Res 5: 192-194.
47. Toba G, Ohsako T, Miyata N, Ohtsuka T, Seong KH, et al. (1999) The gene search system. A method for efficient detection and rapid molecular identification of genes in Drosophila melanogaster. Genetics 151: 725-737.
48. Van Doren M, Williamson AL, Lehmann R, (1998) Regulation of zygotic gene expression in Drosophila primordial germ cells. Curr Biol 8: 243-246.
49. Schulz C, Kiger AA, Tazuke SI, Yamashita YM, Pantalena-Filho LC, et al. (2004) A misexpression screen reveals effects of bag-of-marbles and TGF beta class signaling on the Drosophila male germ-line stem cell lineage. Genetics 167: 707-723.
50. Cherbas L, Hu X, Zhimulev I, Belyaeva E, Cherbas P, (2003) EcR isoforms in Drosophila: testing tissue-specific requirements by targeted blockade and rescue. Development 130: 271-284.
51. Hozumi S, Maeda R, Taniguchi K, Kanai M, Shirakabe S, et al. (2006) An unconventional myosin in Drosophila reverses the default handedness in visceral organs. Nature 440: 798-802.
52. Diagana TT, Thomas U, Prokopenko SN, Xiao B, Worley PF, et al. (2002) Mutation of Drosophila homer disrupts control of locomotor activity and behavioral plasticity. J Neurosci 22: 428-436.
53. Matsuno K, Ito M, Hori K, Miyashita F, Suzuki S, et al. (2002) Involvement of a proline-rich motif and RING-H2 finger of Deltex in the regulation of Notch signaling. Development 129: 1049-1059.
54. Pisano C, Bonaccorsi S, Gatti M, (1993) The kl-3 loop of the Y chromosome of Drosophila melanogaster binds a tektin-like protein. Genetics 133: 569-579.
55. Graham RC Jr, Karnovsky MJ, (1966) The early stages of absorption of injected horseradish peroxidase in the proximal tubules of mouse kidney: ultrastructural cytochemistry by a new technique. J Histochem Cytochem 14: 291-302.
56. Suzuki E, Hirosawa K, (1994) Immunolocalization of a Drosophila phosphatidylinositol transfer protein (rdgB) in normal and rdgA mutant photoreceptor cells with special reference to the subrhabdomeric cisternae. J Electron Microsc (Tokyo) 43: 183-189.
57. Bligh EG, Dyer WJ, (1959) A rapid method of total lipid extraction and purification. Can J Biochem Physiol 37: 911-917.