α-Galactosidase transgenic mouse: Heterogeneous gene expression and posttranslational glycosylation in tissues

Glycoconjugate Journal

Volumn 15, Issue 6, 1998, Pages 591-594

  Ishii, Satoshi ^a,b   Kase, Ryoichi ^b   Sakuraba, Hitoshi ^b   Taya, Choji ^b   Yonekawa, Hiromichi ^b   Okumiya, Toshika ^c   Matsuda, Yoichi ^d   Mannen, Kazuaki ^e   Takeshita, Masazumi ^e   Suzuki, Yoshiyuki ^b  

^a Usuki Bio Research Center   (Japan)

^b TOKYO METROPOLITAN INSTITUTE OF MEDICAL SCIENCE   (Japan)

^c KOCHI MEDICAL SCHOOL   (Japan)

^d NAGOYA UNIVERSITY   (Japan)

^e OITA UNIVERSITY   (Japan)

Author keywords

Galactosidase; Fabry disease; Glycosylation; Transgenic mouse

Indexed keywords

ALPHA GALACTOSIDASE;

ANIMAL EXPERIMENT; ANIMAL TISSUE; ARTICLE; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME ANALYSIS; GENE CONSTRUCT; HEART; HUMAN; HUMAN TISSUE; IMMUNOBLOTTING; KIDNEY; LIVER; MOLECULAR WEIGHT; MOUSE; NONHUMAN; NORTHERN BLOTTING; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN PROCESSING; SPLEEN; TISSUE DISTRIBUTION; TRANSGENIC MOUSE;

ALPHA-GALACTOSIDASE; ANIMALS; GENE EXPRESSION REGULATION, ENZYMOLOGIC; GLYCOSYLATION; HUMANS; KIDNEY; LIVER; MICE; MICE, TRANSGENIC; MYOCARDIUM; PROTEIN PROCESSING, POST-TRANSLATIONAL; SPLEEN;

ANIMALIA; EUKARYOTA; MURINAE; MUS MUSCULUS;

EID: 7344262960     PISSN: 02820080     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1006915926732     Document Type: Article

References (23)

1. Desnick RJ, Ioannou YA, Eng CM (1995) α-Galactosidase A deficiency: Fabry disease In The Metabolic and Molecular Bases of Inherited Disease, 7th edition (Scriver CR, Beaudet AI, Sly WS, Valle D, eds) pp 2741-84. New York: McGraw-Hill.
2. Fukuhara Y, Sakuraba H, Oshima A, Shimmoto M, Nagao Y, Nadaoka Y, Suzuki T, Suzuki Y (1990) Partial deletion of human α-galactosidase A gene in Fabry disease: Direct repeat sequences as a possible cause of slipped mispairing. Biochem Biophys Res Commun 170: 296-300.
3. Kornreich R, Bishop DF, Desnick RJ (1990) α-Galactosidase A gene rearrangements causing Fabry disease: Identification of short direct repeats at breakpoints in an Alu-rich gene. J Biol Chem 265: 9319-26.
4. Ishii S, Sakuraba H, Shimmoto M, Minamikawa-Tachino R, Suzuki T, Suzuki Y (1991) Fabry disease: Detection of 13-bp deletion in α-galactosidase A gene and its application to gene diagnosis of heterozygotes. Ann Neurol 29: 560-4.
5. Davies JP, Winchester BG, Malcolm S (1993) Mutation analysis in patients with the typical form of Anderson-Fabry disease. Hum Molec Genet 2: 1051-3.
6. Eng CM, Resnick-Silverman LA, Niehaus DJ, Astrin KH, Desnick RJ (1993) Nature and frequency of mutations in the α-galactosidase A gene that cause Fabry disease. Am J Hum Genet 53: 1186-97.
7. +1 to t substitution in 5′-splice site causing Fabry disease. Genomics 12: 643-50.
8. Okumiya T, Ishii S, Kase R, Kamei S, Sakuraba H, Suzuki Y (1995) α-Galactosidase gene mutations in Fabry disease: heterogeneous expressions of mutant enzyme proteins. Hum Genet 95: 557-61.
9. Sakuraba H, Oshima A, Fukuhara Y, Shimmoto M, Nagao Y, Bishop DF, Desnick RJ, Suzuki Y (1990) Identification of point mutations in the α-galactosidase A gene in classical and atypical hemizygotes with Fabry disease. Am J Hum Genet 47: 784-9.
10. Koide T, Ishiura M, Iwai K, Inoue M, Kaneda Y, Uchida T (1990) A case of Fabry's disease in a patient with no α-galactosidase A activity caused by a single amino acid substitution of Pro-40 by Ser. FEBS Lett 259: 353-6.
11. Ishii S, Sakuraba H, Suzuki Y (1992) Point mutations in the upstream region of α-galactosidase A gene exon 6 in atypical variant of Fabry disease. Hum Genet 89: 29-32.
12. Nakao S, Takenaka T, Maeda M, Kodama C, Tanaka A, Tahara M, Yoshida A, Kuriyama M, Hayashibe H, Sakuraba H, Tanaka H (1995) An atypical variant of Fabry's disease in men with left ventricular hypertrophy. N Engl J Med 333: 288-93.
13. Mapes CA, Anderson RL, Sweeley CC, Desnick RJ, Krivit W (1970) Enzyme replacement in Fabry's disease, an inborn error of metabolism. Science 169: 987-9.
14. Brady RO, Tallman JF, Johnson WG, Gal AE, Leahy WR, Quirk JM, Dekaban AS (1973) Replacement therapy for inherited enzyme deficiency: Use of purified ceramidetrihexosidase in Fabry's disease. N Engl J Med 289: 9-14.
15. Desnick RJ, Dean KJ, Grabowski GA, Bishop DF, Sweeley CC (1979) Enzyme therapy XII: Enzyme therapy in Fabry's disease: Differencial enzyme and substrate clearance kinetics of plasma and splenic α-galactosidase isozymes. Proc Natl Acad Sci USA 76: 5326-30.
16. Ishii S, Kase R, Sakuraba H, Suzuki Y (1993) Characterization of a mutant α-galactosidase gene product for the late-onset cardiac form of Fabry disease. Biochem Biophys Res Commun 197: 1585-9.
17. Brinster RL, Chen HY, Trumbauer MD, Yagle MK, Palmiter RD (1985) Fators affecting the efficiency of introducing foreign DNA into mice by microinjecting eggs. Proc Natl Acad Sci USA 82: 4438-42.
18. Aldridge J, Kunkel L, Bruns G, Tantravahi U, Lalande M, Brewster T, Moreau E, Wilson M, Bromley W, Roderick T, Latt SA (1984) A strategy to reveal high-frequency RFLPs along the human X chromosome. Am J Hum Genet 36: 546-64.
19. Chomczynski P, Sacchi N (1987) Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction. Anal Biochem 162: 156-9.
20. Ishii S, Kase R, Sakuraba H, Fujita S, Sugimoto M, Tomita K, Semba T, Suzuki Y (1994) Human α-galactosidase gene expression: significance of two peptide regions encoded by exons 1-2 and 6. Biochim Biophys Acta 1204: 265-70.
21. Bradford MM (1976) A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding. Anal Biochem 72: 248-54.
22. Làemmli UK (1970) Cleavage of structural proteins during the assembly of the head of bacteriophage T4. Nature 227: 680-5.
23. Bishop DF, Desnick RJ (1981) Affinity purification of α-galactosidase A from human spleen, placenta, and plasma with elimination of pyrogen contamination. Properties of the purified splenic enzyme compared to other forms. J Biol Chem 256: 1307-16