First PEX11β patient extends spectrum of peroxisomal biogenesis disorder phenotypes

Journal of Medical Genetics

Volumn 49, Issue 5, 2012, Pages 314-316

  Thoms, S ^a   Gärtner, Jutta ^a  

^a UNIVERSITY MEDICAL CENTER GÖTTINGEN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

PEPTIDES AND PROTEINS; PROTEIN PEX 11; UNCLASSIFIED DRUG;

ADULT; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; BIOGENESIS; CASE REPORT; GENE; GENE MUTATION; GENETIC DISORDER; HUMAN; NONHUMAN; PEROXISOME; PEROXISOME BIOGENESIS DISORDER; PEX 11 BETA GENE; PHENOTYPE; PRIORITY JOURNAL;

ADULT; ANIMALS; DISEASE MODELS, ANIMAL; HUMANS; MALE; MEMBRANE PROTEINS; MICE; MUTATION; PEROXISOMAL DISORDERS; PHENOTYPE;

EID: 84864105217     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2012-100899     Document Type: Article

References (45)

1. Passarge E, McAdams AJ. Cerebro-hepato-renal syndrome. A newly recognized hereditary disorder of multiple congenital defects, including sudanophilic leukodystrophy, cirrhosis of the liver, and polycystic kidneys. J Pediatr 1967;71:691-702.
2. Bowen P, Lee CS, Zellweger H, Lindenberg R. A familial syndrome of multiple congential defects. Bull Johns Hopkins Hosp 1964;114:402-14.
3. Goldfischer S, Moore CL, Johnson AB, Spiro AJ, Valsamis MP, Wisniewski HK, Ritch RH, Norton WT, Rapin I, Gartner LM. Peroxisomal and mitochondrial defects in the cerebro-hepato-renal syndrome. Science 1973;182:62-4.
4. Preuss N, Brosius U, Biermanns M, Muntau AC, Conzelmann E, Gartner J. PEX1 mutations in complementation group 1 of Zellweger spectrum patients correlate with severity of disease. Pediatr Res 2002;51:706-14.
5. Weller S, Gould SJ, Valle D. Peroxisome biogenesis disorders. Annu Rev Genomics Hum Genet 2003;4:165-211.
6. Portsteffen H, Beyer A, Becker E, Epplen C, Pawlak A, Kunau WH, Dodt G. Human PEX1 is mutated in complementation group 1 of the peroxisome biogenesis disorders. Nat Genet 1997;17:449-52.
7. Fukuda S, Shimozawa N, Suzuki Y, Zhang Z, Tomatsu S, Tsukamoto T, Hashiguchi N, Osumi T, Masuno M, Imaizumi K, Kuroki Y, Fujiki Y, Orii T, Kondo N. Human peroxisome assembly factor-2 (PAF-2): a gene responsible for group C peroxisome biogenesis disorder in humans. Am J Hum Genet 1996;59:1210-20.
8. Yahraus T, Braverman N, Dodt G, Kalish JE, Morrell JC, Moser HW, Valle D, Gould SJ. The peroxisome biogenesis disorder group 4 gene, PXAAA1, encodes a cytoplasmic ATPase required for stability of the PTS1 receptor. EMBO J 1996;15:2914-23.
9. Weller S, Cajigas I, Morrell J, Obie C, Steel G, Gould SJ, Valle D. Alternative splicing suggests extended function of PEX26 in peroxisome biogenesis. Am J Hum Genet 2005;76:987-1007.
10. Matsumoto N, Tamura S, Fujiki Y. The pathogenic peroxin Pex26p recruits the Pex1p-Pex6p AAA ATPase complexes to peroxisomes. Nat Cell Biol 2003;5:454-60.
11. Okumoto K, Shimozawa N, Kawai A, Tamura S, Tsukamoto T, Osumi T, Moser H, Wanders RJ, Suzuki Y, Kondo N, Fujiki Y. 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. Mol Cell Biol 1998;18:4324-36.
12. Shimozawa N, Tsukamoto T, Suzuki Y, Orii T, Shirayoshi Y, Mori T, Fujiki Y. A human gene responsible for Zellweger syndrome that affects peroxisome assembly. Science 1992;255:1132-4.
13. Warren DS, Morrell JC, Moser HW, Valle D, Gould SJ. Identification of PEX10, the gene defective in complementation group 7 of the peroxisome-biogenesis disorders. Am J Hum Genet 1998;63:347-59.
14. Dodt G, Braverman N, Wong C, Moser A, Moser HW, Watkins P, Valle D, Gould SJ. Mutations in the PTS1 receptor gene, PXR1, define complementation group 2 of the peroxisome biogenesis disorders. Nat Genet 1995;9:115-25.
15. Purdue PE, Zhang JW, Skoneczny M, Lazarow PB. Rhizomelic chondrodysplasia punctata is caused by deficiency of human PEX7, a homologue of the yeast PTS2 receptor. Nat Genet 1997;15:381-4.
16. Motley AM, Hettema EH, Hogenhout EM, Brites P, ten Asbroek AL, Wijburg FA, Baas F, Heijmans HS, Tabak HF, Wanders RJ, Distel B. Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor. Nat Genet 1997;15:377-80.
17. Braverman N, Steel G, Obie C, Moser A, Moser H, Gould SJ, Valle D. Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata. Nat Genet 1997;15:369-76.
18. Shimozawa N, Suzuki Y, Zhang Z, Imamura A, Toyama R, Mukai S, Fujiki Y, Tsukamoto T, Osumi T, Orii T, Wanders RJ, Kondo N. Nonsense and temperaturesensitive mutations in PEX13 are the cause of complementation group H of peroxisome biogenesis disorders. Hum Mol Genet 1999;8:1077-83.
19. Liu Y, Björkman J, Urquhart A, Wanders RJ, Crane DI, Gould SJ. PEX13 is mutated in complementation group 13 of the peroxisome-biogenesis disorders. Am J Hum Genet 1999;65:621-34.
20. Honsho M, Tamura S, Shimozawa N, Suzuki Y, Kondo N, Fujiki Y. Mutation in PEX16 is causal in the peroxisome-deficient Zellweger syndrome of complementation group D. Am J Hum Genet 1998;63:1622-30.
21. Shimozawa N, Suzuki Y, Zhang Z, Imamura A, Ghaedi K, Fujiki Y, Kondo N. Identification of PEX3 as the gene mutated in a Zellweger syndrome patient lacking peroxisomal remnant structures. Hum Mol Genet 2000;9:1995-9.
22. Ghaedi K, Honsho M, Shimozawa N, Suzuki Y, Kondo N, Fujiki Y. PEX3 is the causal gene responsible for peroxisome membrane assembly-defective Zellweger syndrome of complementation group G. Am J Hum Genet 2000;67:976-81.
23. Matsuzono Y, Kinoshita N, Tamura S, Shimozawa N, Hamasaki M, Ghaedi K, Wanders RJ, Suzuki Y, Kondo N, Fujiki Y. Human PEX19: cDNA cloning by functional complementation, mutation analysis in a patient with Zellweger syndrome, and potential role in peroxisomal membrane assembly. Proc Natl Acad Sci U S A 1999;96:2116-21.
24. Shimozawa N, Tsukamoto T, Nagase T, Takemoto Y, Koyama N, Suzuki Y, Komori M, Osumi T, Jeannette G, Wanders RJA, Kondo N. Identification of a new complementation group of the peroxisome biogenesis disorders and PEX14 as the mutated gene. Hum Mutat 2004;23:552-8.
25. Huybrechts SJ, Van Veldhoven PP, Hoffman I, Zeevaert R, de Vos R, Demaerel P, Brams M, Jaeken J, Fransen M, Cassiman D. Identification of a novel PEX14 mutation in Zellweger syndrome. J Med Genet 2008;45:376-83.
26. Ebberink MS, Koster J, Visser G, van Spronsen FJ, Stolte-Dijkstra I, Smit GPA, Fock JM, Kemp S, Wanders RJ, Waterham HR. A novel defect of peroxisome division due to a homozygous nonsense mutation in the PEX11beta gene. J Med Genet 2012;49(5):307-13.
27. Thoms S, Erdmann R. Dynamin-related proteins and Pex11 proteins in peroxisome division and proliferation. FEBS J 2005;272:5169-81.
28. Schrader M, Reuber BE, Morrell JC, Jimenez-Sanchez G, Obie C, Stroh TA, Valle D, Schroer TA, Gould SJ. Expression of PEX11beta mediates peroxisome proliferation in the absence of extracellular stimuli. J Biol Chem 1998;273:29607-14.
29. Opaliński Ł, Veenhuis M, van der Klei IJ. Peroxisomes: membrane events accompanying peroxisome proliferation. Int J Biochem Cell Biol 2011;43:847-51.
30. Knoblach B, Rachubinski RA. Phosphorylation-dependent activation of peroxisome proliferator protein PEX11 controls peroxisome abundance. J Biol Chem 2010;285:6670-80.
31. Joshi S, Agrawal G, Subramani S. Phosphorylation-dependent Pex11p and Fis1p interaction regulates peroxisome division. Mol Biol Cell 2012;23:1307-15.
32. Lingard MJ, Gidda SK, Bingham S, Rothstein SJ, Mullen RT, Trelease RN. Arabidopsis PEROXIN11c-e, FISSION1b, and DYNAMIN-RELATED PROTEIN3A cooperate in cell cycle-associated replication of peroxisomes. Plant Cell 2008;20:1567-85.
33. Kobayashi S, Tanaka A, Fujiki Y. Fis1, DLP1, and Pex11p coordinately regulate peroxisome morphogenesis. Exp Cell Res 2007;313:1675-86.
34. Koch J, Pranjic K, Huber A, Ellinger A, Hartig A, Kragler F, Brocard C. PEX11 family members are membrane elongation factors that coordinate peroxisome proliferation and maintenance. J Cell Sci 2010;123:3389-400.
35. Koch A, Thiemann M, Grabenbauer M, Yoon Y, McNiven MA, Schrader M. Dynaminlike protein 1 is involved in peroxisomal fission. J Biol Chem 2003;278:8597-605.
36. Waterham HR, Koster J, van Roermund CW, Mooyer PA, Wanders RJ, Leonard JV. A lethal defect of mitochondrial and peroxisomal fission. N Engl J Med 2007;356:1736-41.
37. Delille HK, Dodt G, Schrader M. Pex11pβ-mediated maturation of peroxisomes. Commun Integr Biol 2011;4:51-4.
38. Koch J, Brocard C. Membrane elongation factors in organelle maintenance: the case of peroxisome proliferation. Biomol Concepts 2011;2:353-64.
39. Régal L, Ebberink MS, Goemans N, Wanders RJ, De Meirleir L, Jaeken J, Schrooten M, Van Coster R, Waterham HR. Mutations in PEX10 are a cause of autosomal recessive ataxia. Ann Neurol 2010;68:259-63.
40. Sevin C, Ferdinandusse S, Waterham HR, Wanders RJ, Aubourg P. Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene. Orphanet J Rare Dis 2011;6:8.
41. Ebberink MS, Csanyi B, Chong WK, Denis S, Sharp P, Mooijer PA, Dekker CJ, Spooner C, Ngu LH, De Sousa C, Wanders RJ, Fietz MJ, Clayton PT, Waterham HR, Ferdinandusse S. Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene. J Med Genet 2010;47:608-15.
42. Li X, Baumgart E, Morrell JC, Jimenez-Sanchez G, Valle D, Gould SJ. PEX11 beta deficiency is lethal and impairs neuronal migration but does not abrogate peroxisome function. Mol Cell Biol 2002;22:4358-65.
43. Ahlemeyer B, Gottwald M, Baumgart-Vogt E. Deletion of a single allele of the Pex11β gene is sufficient to cause oxidative stress, delayed differentiation and neuronal death in mouse brain. Dis Model Mech 2012;5:125-40.
44. Li X, Baumgart E, Dong GX, Morrell JC, Jimenez-Sanchez G, Valle D, Smith KD, Gould SJ. PEX11alpha is required for peroxisome proliferation in response to 4-phenylbutyrate but is dispensable for peroxisome proliferator-activated receptor alpha-mediated peroxisome proliferation. Mol Cell Biol 2002;22:8226-40.
45. Thoms S, Grønborg S, Gärtner J. Organelle interplay in peroxisomal disorders. Trends Mol Med 2009;15:293-302.