Targeted inactivation of the X-linked adrenoleukodystrophy gene in mice

Journal of Neuroscience Research

Volumn 50, Issue 5, 1997, Pages 829-843

  Forss Petter, Sonja ^a,b   Werner, Hauke ^b   Berger, Johannes ^a   Lassmann, Hans ^a   Molzer, Brunhilde ^a   Schwab, Markus H ^b   Bernheimer, Hanno ^a   Zimmermann, Frank ^b   Nave, Klaus Armin ^b  

^a MEDICAL UNIVERSITY OF VIENNA   (Austria)

^b UNIVERSITY OF HEIDELBERG   (Germany)

Author keywords

ABC transporter; Addison's disease; Adrenomyeloneuropathy; Demyelination; Gene targeting; Myelin disease; Myelin genetics; Peroxisome function

Indexed keywords

ADRENAL INSUFFICIENCY; ADRENOLEUKODYSTROPHY; ANIMAL EXPERIMENT; ANIMAL TISSUE; ARTICLE; DEMYELINATION; GENE REPRESSION; MOUSE; NONHUMAN; PRIORITY JOURNAL; TRANSGENIC MOUSE; X CHROMOSOME; X CHROMOSOME LINKAGE;

EID: 0030689779     PISSN: 03604012     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1097-4547(19971201)50:5<829::AID-JNR19>3.0.CO;2-W     Document Type: Article

References (56)

1. Aubourg (1996): X-linked adrenoleukodystrophy. In Moser HW (ed): "Handbook of Clinical Neurology. Vol. 22: Neurodystrophies and Neurolipidoses." Amsterdam: Elsevier, pp 447-483.
2. Aubourg P, Mandel J-L (in press): X-linked adrenoleukodystrophy. Ann NY Acad Sci.
3. Berger J, Molzer B, Fae I. Bernheimer H (1994): X-linked adrenoleukodystrophy (ALD): a novel mutation of the ALD gene in 6 members of a family presenting with 5 different phenotypes. Biochem Biophys Res Commun 205:1638-1643.
4. Berger J, Bernheimer H, Fae I, Braun A, Roscher A, Molzer B, Fischer G (1995): Association of X-linked adrenoleukodystrophy with HLA DRB1 alleles. Biochem Biophys Res Commun 216:447-451.
5. Boison D, Büssow H, D'Urso D, Müller HW, Stoffel W (1995): Adhesive properties of proteolipid protein are responsible for the compaction of CNS myelin sheaths. J Neurosci 15:5502-5513.
6. Brown FR, Chen WW, Kirschner DA, Frayer KL, Powers JM, Moser AB, Moser HW (1983): Myelin membrane from adrenoleukodystrophy brain white matter-biochemical properties. J Neurochem 41:341-348.
7. Budka H, Sluga E, Heiss WD (1976): Spastic paraplegia associated with Addison's disease: adult variant of adrenoleukodystrophy. J Neurol 213:237-250.
8. Cartier N, Lopez J, Moullier P, Rocchiccioli F, Rolland M-O, Jorge P, Mosser J, Mandel J-L, Bougnères P-F, Danos O, Aubourg P (1995): Retroviral-mediated gene transfer corrects very-long-chain fatty acid metabolism in adrenoleukodystrophy fibroblasts. Proc Natl Acad Sci USA 92:1674-1678.
9. Chomczynski P, Sacchi N (1987): Single step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction. Anal Biochem 162:156-160.
10. Contreras M, Mosser J, Mandel J-L, Aubourg P, Singh I (1994): The protein coded by the X-adrenoleukodystrophy gene is a peroxisomal integral membrane protein. FEBS Lett 344:211-215.
11. Davis LE, Snyder RD, Orth DN, Nicholson WE, Kornfeld M, Seelinger DF (1979): Adrenoleukodystrophy and adrenomyeloneuropathy associated with partial adrenal insufficiency in three generations of a kindred. Am J Med 66:342-347.
12. Ewart GD, Cannell D, Cox GB, Howells AJ (1994): Mutational analysis of the traffic ATPase (ABC) transporters involved in uptake of eye pigment precursors in Drosophila melanogaster. J Biol Chem 14:10370-10377.
13. Federico A, Dotti MT, Annunziata P (1988): Adrenomyeloneurodystrophy with late cerebral involvement and evidence of a multiple autoimmune disorder. J Inherited Metab Dis 11:169-172.
14. Feigenbaum V, Lombard-Platet G, Guidoux S, Sarde C, Mandel J-L, Aubourg P (1996): Mutational and protein analysis of patients and heterozygous women with X-linked adrenoleukodystrophy. Am J Hum Genet 58:1135-1144.
15. Folch J, Lees M, Sloane-Stanley, GH (1957): A simple method for the isolation and purification of total lipids from animal tissues. J Biol Chem 226:497-509.
16. Fouquet F, Zhou JM, Ralston E, Murray K, Troalen F, Magal E, Robain O, Dubois-Daicq M, Aubourg P (1997): Expression of the adrenoleukodystrophy protein in the human and mouse central nervous system. Neurobiol Dis 3:271-285.
17. Griffiths IR, Duncan ID, McCulloch M (1981): Shaking pup: a disorder of central myelination of the spaniel dog. II. Ultrastructural observations on the white matter of cervical spinal cord. J Neurocytol 10:847-858.
18. Hashmi M, Stanley W, Singh I (1986): Lignoceroyl CoASH ligase: enzyme defect in fatty acid β-oxidation in X-linked adrenoleukodystrophy. FEBS Lett 196:247-250.
19. Hess B, Saftig P, Hartmann D, Coenen R, Lüllmann-Rauch R, Goebel HH, Evers M, von Figura K, D'Hooge R, Nagels G, De Deyn P, Peters C, Gieselmann V (1996): Phenotype of arylsulfatase A-deficient mice: relationship to human metachromatic leukodystrophy. Proc Natl Acad Sci USA 93:14821-14826.
20. Higgins CF (1992): ABC transporters: from microorganisms to man. Annu Rev Cell Biol 8:67-113.
21. Ho JK, Moser H, Kishimoto Y, Hamilton JA (1995): Interactions of a very long chain fatty acid with model membranes and serum albumin-implications for the pathogenesis of adrenoleukodystrophy. J Clin Invest 96:1455-1463.
22. Joyner A (1993): "Gene Targeting: A Practical Approach." New York: Oxford University Press.
23. Kennedy MA, Rowland SA, Miller AL, Morris CM, Neville LA, Dodd A, Fifield WJ, Lowe DR (1996): Structure and location of the murine adrenoleukodystrophy gene. Genomics 32:395-400.
24. Klugmann M, Schwab MH, Pühlhofer A, Schneider A, Zimmermann F, Griffiths IR, Nave K-A (1997): Assembly of CNS myelin in the absence of proteolipid protein. Neuron 18:59-70.
25. Kobayashi T, Yamada T, Yasutake T, Shinnoh N, Goto I, Iwaki T (1994): Adrenoleukodystrophy gene encodes an 80 kDa membrane protein. Biochem Biophys Res Commun 201:1029-1034.
26. Kobayashi T, Shinnoh N, Kondo A, Yamada T (1997): Adrenoleukodystrophy protein-deficient mice represent abnormality of very long chain fatty acid metabolism. Biochem Biophys Res Commun 232:631-636.
27. Kok F, Neumann S, Sarde CO, Siqun Z, Wu KH, Wei HM, Bergin J, Watkins P, Gould S, Sack G, Moser H, Mandel J-L, Smith (1995): Mutational analysis of patients with X-linked adrenoleukodystrophy. Hum Mutation 6:104-115.
28. Lazo O, Contreras M, Hashmi M, Stanley W, Irazu C, Singh I (1988): Peroxisomal lignoceroyl-CoA ligase deficiency in childhood adrenoleukodystrophy and adrenomyeloneuropathy. Proc Natl Acad Sci USA 85:7647-7651.
29. Libber SM, Migeon CJ, Brown FR III, Moser HW (1986): Adrenal and testicular function in 14 patients with adrenoleukodystrophy or adrenomyeloneuropathy. Horm Res 24:1-8.
30. Ligtenberg MJL, Kemp S, Sarde C-O, Van Geel BM, Kleijer WJ, Barth PG, Mandel JL, Van Oost BA, Bolhuis PA (1995): Spectrum of mutations in the gene encoding the adrenoleukodystrophy protein. Am J Hum Genet 56:44-50.
31. Lombard-Platet G, Savary S, Sarde C-O, Mandel J-L, Chimini G (1996): A close relative of the adrenoleukodystrophy (ALD) gene codes for a peroxisomal protein with a specific expression pattern. Proc Natl Acad Sci USA 93:1265-1269.
32. Mansour SL, Thomas KR, Capecchi MR (1988): Disruption of the proto-oncogene int-2 in mouse embryo-derived stem cells: a general strategy for targeting mutations to non-selectable genes. Nature 336:348-352.
33. Molzer B, Bernheimer H, Budka H, Pilz P, Toifl K (1981): Accumulation of very long chain fatty acids is common to 3 variants of adrenoleukodystrophy. J Neurosci Res 51:301-310.
34. Molzer B, Korschinsky M, Bernheimer H, Schmid R, Wolf C, Roscher A (1986): Very long chain fatty acids in genetic peroxisomal disease fibroblasts: differences between cerebro-hepato-renal (Zellweger) syndrome and adrenoleukodystrophy variants. Clin Chim Acta 161:81-90.
35. Moser HW, Moser AB (1991): Measurements of saturated very long chain fatty acids in plasma. In Hommes FA (ed): "Techniques in Diagnostic Human Biochemical Genetics." New York: Wiley-Liss, pp 117-191.
36. Moser HW, Moser AB, Smith KD, Bergin A, Borel J, Shankroff J, Stine OC, Merette C, Ott J, Krivit W, Shapiro E (1992): Adrenoleukodystrophy: phenotypic variability: implications for therapy. J Inherited Metab Dis 15:645-664.
37. Moser HW, Smith KD, Moser AB (1995): X-linked adrenoleukodystrophy. In Scriver CR, Beaudet AL, Sly WS, Valle D (eds): "The Metabolic and Molecular Basis of Inherited Disease." New York: McGraw Hill, pp 2325-2349.
38. Mosser J, Douar A-M, Sarde C-O, Kioschis P, Feil R, Moser H, Poustka A-M, Mandel J-L, Aubourg P (1993): Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters. Nature 361:726-730.
39. Mosser J, Lutz Y, Stoeckel ME, Sarde C-O, Kretz C, Douar A-M, Aubourg P, Mandel J-L (1994): The gene responsible for adrenoleukodystrophy encodes a peroxisomal membrane protein. Hum Mol Genet 3:265-271.
40. Nave K-A, Boespflug-Tanguy O (1996): Developmental defects of myelin formation: from X-linked mutations to human dysmyelinating diseases. Neuroscientist 2:33-43.
41. Pollard H, Moreau J, Aubourg P (1995): Localization of mRNAs for adrenoleukodystrophy and the 70 kDa peroxisomal (PMP70) proteins in the rat brain during post-natal development. J Neurosci Res 42:433-437.
42. Powers JM (1985): Adrenoleukodystrophy (adreno-testiculo-leukomyeloneuropathic-complex). Clin Neuropathol 4:181-199.
43. Powers JM (1995): The pathology of peroxisomal disorders with pathogenetic considerations. J Neuropathol Exp Neurol 5:710-719.
44. Powers JM, Schaumburg HH (1973): The adrenal cortex in adrenoleukodystrophy. Arch Pathol 96:305-310.
45. Powers JM, Schaumberg HH (1981): The testis in adrenoleukodystrophy. Am J Pathol 102:90-98.
46. Readhead C, Schneider A, Griffiths I, Nave K-A (1994): Premature arrest of myelin formation in transgenic mice with increased proteolipid protein gene dosage. Neuron 12:583-596.
47. Sarde C-O, Thomas J, Sadoulet H, Gamier J-M, Mandel J-L (1994): cDNA sequence of the mouse homologue of the X-linked adrenoleukodystrophy gene. Mamm Genome 5:810-813.
48. Schaumberg HH, Powers JM, Raine CS, Spencer PS, Griffin JW, Prineas JW, Boehme DM (1977): Adrenomyeloneuropathy: a probable variant of adrenoleukodystrophy. II. General pathologic, neuropathologic and biochemical aspects. Neurology 27:1114-1119.
49. Schneider A, Readhead C, Griffiths I, Nave K-A (1995): Dominantnegative action of the jimpy mutation in mice complemented with an autosomal transgene for myelin proteolipid protein. Proc Natl Acad Sci USA 92:4447-4451.
50. Shani N, Sapag A, Valle D (1996): Characterization and analysis of conserved motifs in a peroxisomal ATP-binding cassette transporter. J Biol Chem 271:8725-8730.
51. Shinnoh N, Yasuyuko S, Yoshimura T, Furuya H, Yoshida Y, Suzuki Y, Shimozawa N, Orii T, Kobayashi T (1995) Adrenoleukodystrophy: the restoration of peroxisomal β-oxidation by transfection of normal cDNA. Biochem Biophys Res Commun 210:830-836.
52. Singh I, Lazo O, Dhaunsi GS, Contreras M (1992): Transport of fatty acids into human and rat peroxisomes. Differential transport of palmitic and lignoceric acids and its implication to X-adrenoleukodystrophy. J Biol Chem 267:13306-13313.
53. Theda C, Moser AB, Powers JM, Moser HW (1992): Phospholipids in X-linked adrenoleukodystrophy white matter: fatty acid abnormalities before the onset of demyelination. J Neurol Sci 110:195-204.
54. Watkins PA, Ferrell EV, Pedersen JI, Hoefler G (1991): Peroxisomal fatty acid β-oxidation in HepG2 cells. Arch Biochem Biophys 289:329-336.
55. Watkins PA, Could SJ, Smith MA, Braiterman LT, Wei HM, Kok F, Moser AB, Moser HW, Smith KD (1995): Altered expression of ALDP in X-linked adrenoleukodystrophy. Am J Hum Genet 57:292-301.
56. Wilson R, Sargent JR (1993): Lipid and fatty acid composition of brain tissue from adrenoleukodystrophy patients. J Neurochem 61: 290-297.