Elevated oxidative membrane damage associated with genetic modifiers of Lyst-mutant phenotypes

PLoS Genetics

Volumn 6, Issue 7, 2010, Pages 1-12

  Trantow, Colleen M ^a   Hedberg Buenz, Adam ^a   Iwashita, Sachiyo ^a   Moore, Steven A ^a   Anderson, Michael G ^a  

^a UNIVERSITY OF IOWA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOPLASM PROTEIN; LIPID PEROXIDE; MELANIN; MUTANT PROTEIN; PROTEIN LYST; UNCLASSIFIED DRUG; LYST PROTEIN, MOUSE; PROTEIN;

ANIMAL TISSUE; ARTICLE; BAGG ALBINO MOUSE; CONTROLLED STUDY; DBA 2 MOUSE; DEGENERATIVE DISEASE; DISEASE SEVERITY; DNA MODIFICATION; GENE MUTATION; GENETIC ASSOCIATION; IRIS; MELANOGENESIS; MELANOSOME; MEMBRANE DAMAGE; MOUSE; NEUROPATHOLOGY; NONHUMAN; ONSET AGE; OXIDATIVE STRESS; PHENOTYPE; PURKINJE CELL; TISSUE LEVEL; ANIMAL; C57BL MOUSE; CELL MEMBRANE; DBA MOUSE; DISEASE MODEL; EXFOLIATION SYNDROME; FEMALE; GENETICS; HUMAN; MALE; METABOLISM; MUTATION; PATHOLOGY;

MUS;

ANIMALS; CELL MEMBRANE; DISEASE MODELS, ANIMAL; EXFOLIATION SYNDROME; FEMALE; HUMANS; IRIS; MALE; MICE; MICE, INBRED C57BL; MICE, INBRED DBA; MUTATION; OXIDATIVE STRESS; PHENOTYPE; PROTEINS;

EID: 77957348282     PISSN: 15537390     EISSN: 15537404     Source Type: Journal    
DOI: 10.1371/journal.pgen.1001008     Document Type: Article

References (47)

1. Kaplan J, De Domenico I, Ward DM (2008) Chediak-Higashi syndrome. Curr Opin Hematol 15: 22-29.
2. Barbosa MD, Nguyen QA, Tchernev VT, Ashley JA, Detter JC, et al. (1996) Identification of the homologous beige and Chediak-Higashi syndrome genes. Nature 382: 262-265.
3. Nagle DL, Karim MA, Woolf EA, Holmgren L, Bork P, et al. (1996) Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome. Nat Genet 14: 307-311.
4. Trantow CM, Mao M, Petersen GE, Alward EM, Alward WL, et al. (2009) Lyst mutation in mice recapitulates iris defects of human exfoliation syndrome. Invest Ophthalmol Vis Sci 50: 1205-1214.
5. Schlotzer-Schrehardt U, Naumann GO (2006) Ocular and systemic pseudoexfoliation syndrome. Am J Ophthalmol 141: 921-937.
6. Perou CM, Moore KJ, Nagle DL, Misumi DJ, Woolf EA, et al. (1996) Identification of the murine beige gene by YAC complementation and positional cloning. Nat Genet 13: 303-308.
7. Perou CM, Leslie JD, Green W, Li L, Ward DM, et al. (1997) The Beige/ Chediak-Higashi syndrome gene encodes a widely expressed cytosolic protein. J Biol Chem 272: 29790-29794.
8. Huizing M, Helip-Wooley A, Westbroek W, Gunay-Aygun M, Gahl WA (2008) Disorders of lysosome-related organelle biogenesis: clinical and molecular genetics. Annu Rev Genomics Hum Genet 9: 359-386.
9. Bossi G, Griffiths GM (2005) CTL secretory lysosomes: biogenesis and secretion of a harmful organelle. Semin Immunol 17: 87-94.
10. Charette SJ, Cosson P (2007) A LYST/beige homolog is involved in biogenesis of Dictyostelium secretory lysosomes. J Cell Sci 120: 2338-2343.
11. Huynh C, Roth D, Ward DM, Kaplan J, Andrews NW (2004) Defective lysosomal exocytosis and plasma membrane repair in Chediak-Higashi/beige cells. Proc Natl Acad Sci U S A 101: 16795-16800.
12. Windhorst DB, Zelickson AS, Good RA (1968) A human pigmentary dilution based on a heritable subcellular structural defect-the Chediak-Higashi syndrome. J Invest Dermatol 50: 9-18.
13. Faigle W, Raposo G, Tenza D, Pinet V, Vogt AB, et al. (1998) Deficient peptide loading and MHC class II endosomal sorting in a human genetic immunodeficiency disease: the Chediak-Higashi syndrome. J Cell Biol 141: 1121-1134.
14. Tanabe F, Cui SH, Ito M (2000) Abnormal down-regulation of PKC is responsible for giant granule formation in fibroblasts from CHS (beige) mice-a thiol proteinase inhibitor, E-64-d, prevents giant granule formation in beige fibroblasts. J Leukoc Biol 67: 749-755.
15. Zhang H, Fan X, Bagshaw RD, Zhang L, Mahuran DJ, et al. (2007) Lysosomal membranes from beige mice contain higher than normal levels of endoplasmic reticulum proteins. J Proteome Res 6: 240-249.
16. Zhao H, Boissy YL, Abdel-Malek Z, King RA, Nordlund JJ, et al. (1994) On the analysis of the pathophysiology of Chediak-Higashi syndrome. Defects expressed by cultured melanocytes. Lab Invest 71: 25-34.
17. Tchernev VT, Mansfield TA, Giot L, Kumar AM, Nandabalan K, et al. (2002) The Chediak-Higashi protein interacts with SNARE complex and signal transduction proteins. Mol Med 8: 56-64.
18. Anderson MG, Hawes NL, Trantow CM, Chang B, John SW (2008) Iris phenotypes and pigment dispersion caused by genes influencing pigmentation. Pigment Cell Melanoma Res 21: 565-578.
19. Chang B, Smith RS, Hawes NL, Anderson MG, Zabaleta A, et al. (1999) Interacting loci cause severe iris atrophy and glaucoma in DBA/2J mice. Nat Genet 21: 405-409.
20. John SW, Smith RS, Savinova OV, Hawes NL, Chang B, et al. (1998) Essential iris atrophy, pigment dispersion, and glaucoma in DBA/2J mice. Invest Ophthalmol Vis Sci 39: 951-962.
21. Anderson MG, Smith RS, Hawes NL, Zabaleta A, Chang B, et al. (2002) Mutations in genes encoding melanosomal proteins cause pigmentary glaucoma in DBA/2J mice. Nat Genet 30: 81-85.
22. Anderson MG, Libby RT, Mao M, Cosma IM, Wilson LA, et al. (2006) Genetic context determines susceptibility to intraocular pressure elevation in a mouse pigmentary glaucoma. BMC Biol 4: 20.
23. Zdarsky E, Favor J, Jackson IJ (1990) The molecular basis of brown, an old mouse mutation, and of an induced revertant to wild type. Genetics 126: 443-449.
24. Howell GR, Libby RT, Marchant JK, Wilson LA, Cosma IM, et al. (2007) Absence of glaucoma in DBA/2J mice homozygous for wild-type versions of Gpnmb and Tyrp1. BMC Genet 8: 45.
25. Kobayashi T, Urabe K, Winder A, Jimenez-Cervantes C, Imokawa G, et al. (1994) Tyrosinase related protein 1 (TRP1) functions as a DHICA oxidase in melanin biosynthesis. Embo J 13: 5818-5825.
26. Halaban R, Moellmann G (1990) Murine and human b locus pigmentation genes encode a glycoprotein (gp75) with catalase activity. Proc Natl Acad Sci U S A 87: 4809-4813.
27. Hauser RA, Friedlander J, Baker MJ, Thomas J, Zuckerman KS (2000) Adult Chediak-Higashi parkinsonian syndrome with dystonia. Mov Disord 15: 705-708.
28. Adibhatla RM, Hatcher JF (2010) Lipid oxidation and peroxidation in CNS health and disease: from molecular mechanisms to therapeutic opportunities. Antioxid Redox Signal 12: 125-169.
29. Pawelek JM, Lerner AB (1978) 5,6-Dihydroxyindole is a melanin precursor showing potent cytotoxicity. Nature 276: 626-628.
30. Smit NPM, Pavel S, Riley PA (2000) Mechanisms of control of the cytotoxicity of orthoquinone intermediates of melanogenesis. In: Creveling CR, ed. Role of catechol quinone species in cellular toxicity. Johnson City, TN: F.P. Graham Publishing. pp 191-245.
31. Idone V, Tam C, Andrews NW (2008) Two-way traffic on the road to plasma membrane repair. Trends Cell Biol 18: 552-559.
32. Catala A (2009) Lipid peroxidation of membrane phospholipids generates hydroxy-alkenals and oxidized phospholipids active in physiological and/or pathological conditions. Chem Phys Lipids 157: 1-11.
33. Imai H, Nakagawa Y (2003) Biological significance of phospholipid hydroperoxide glutathione peroxidase (PHGPx, GPx4) in mammalian cells. Free Radic Biol Med 34: 145-169.
34. Seiler A, Schneider M, Forster H, Roth S, Wirth EK, et al. (2008) Glutathione peroxidase 4 senses and translates oxidative stress into 12/15-lipoxygenase dependent- and AIF-mediated cell death. Cell Metab 8: 237-248.
35. Boissy RE, Sakai C, Zhao H, Kobayashi T, Hearing VJ (1998) Human tyrosinase related protein-1 (TRP-1) does not function as a DHICA oxidase activity in contrast to murine TRP-1. Exp Dermatol 7: 198-204.
36. Lein ES, Hawrylycz MJ, Ao N, Ayres M, Bensinger A, et al. (2007) Genomewide atlas of gene expression in the adult mouse brain. Nature 445: 168-176.
37. Haddad E, Le Deist F, Blanche S, Benkerrou M, Rohrlich P, et al. (1995) Treatment of Chediak-Higashi syndrome by allogenic bone marrow transplantation: report of 10 cases. Blood 85: 3328-3333.
38. Tardieu M, Lacroix C, Neven B, Bordigoni P, de Saint Basile G, et al. (2005) Progressive neurologic dysfunctions 20 years after allogeneic bone marrow transplantation for Chediak-Higashi syndrome. Blood 106: 40-42.
39. Pfenninger KH (2009) Plasma membrane expansion: a neuron's Herculean task. Nat Rev Neurosci 10: 251-261.
40. Koliakos GG, Befani CD, Mikropoulos D, Ziakas NG, Konstas AG (2008) Prooxidant-antioxidant balance, peroxide and catalase activity in the aqueous humour and serum of patients with exfoliation syndrome or exfoliative glaucoma. Graefes Arch Clin Exp Ophthalmol 246: 1477-1483.
41. Challa P (2009) Genetics of pseudoexfoliation syndrome. Curr Opin Ophthalmol 20: 88-91.
42. Perou CM, Leslie JD, Green W, Li L, Ward DM, et al. (1997) The Beige/ Chediak-Higashi Syndrome Gene Encodes a Widely Expressed Cytosolic Protein. J Biol Chem 272: 29790-29794.
43. Rudelius M, Osanger A, Kohlmann S, Augustin M, Piontek G, et al. (2006) A missense mutation in the WD40 domain of murine Lyst is linked to severe progressive Purkinje cell degeneration. Acta Neuropathol (Berl).
44. Finley KD, Edeen PT, Cumming RC, Mardahl-Dumesnil MD, Taylor BJ, et al. (2003) blue cheese mutations define a novel, conserved gene involved in progressive neural degeneration. J Neurosci 23: 1254-1264.
45. Simonsen A, Cumming RC, Lindmo K, Galaviz V, Cheng S, et al. (2007) Genetic modifiers of the Drosophila blue cheese gene link defects in lysosomal transport with decreased life span and altered ubiquitinated-protein profiles. Genetics 176: 1283-1297.
46. Lim A, Kraut R (2009) The Drosophila BEACH family protein, blue cheese, links lysosomal axon transport with motor neuron degeneration. J Neurosci 29: 951-963.
47. Le Fur N, Kelsall SR, Mintz B (1996) Base substitution at different alternative splice donor sites of the tyrosinase gene in murine albinism. Genomics 37: 245-248.