High Overexpression of the Human α-Galactosidase a Gene Driven by Its Promoter in Transgenic Mice: Implications for the Treatment of Fabry Disease

Desnick RJ , Ioannou YA , Eng CM. α-Galactosidase. A deficiency: Fabry disease. In: Scriver CR , Beaudet AL , Sly WS , Valle D , Kinzler KE , Vogelstein B , eds.The Metabolic and Molecular Bases of Inherited Disease. 8th ed. New York: McGraw-Hill, 2001;2:3733–3774.

Bishop DF , Calhoun DH , Bernstein HS , Hantzopoulos P , Quinn M , Desnick RJ. Human α-galactosidase A : Nucleotide sequence of a cDNA clone encoding the mature enzyme. Proc Natl Acad Sci U S A 1986;83:4859–4863.

Ioannou YA , Zeidner KM , Grace ME , Desnick RJ. Human α-galactosidase A : Glycosylation site 3 is essential for enzyme solubility. Biochem J 1998;332:789–797.

Brady RO , Gal AE , Bradley RM , Martensson E , Warshaw AL , Laster L. Enzymatic defect in Fabry/s disease: Ceramidetrihexosidase deficiency. N Engl J Med 1967;276:1163–1167.

Ashton-Prolla P , Tong B , Shabbeer J , Eng CM , Desnick RJ. Fabry disease : Twenty-two novel mutations in the α-galactosidase A gene and genotype/phenotype correlations in severely and mildly affected hemizygotes and heterozygotes. J Investig Med 2000;48:227–235.

Ashley GA , Shabbeer J , Yasuda M , Eng CM , Desnick RJ. Fabry disease : Twenty novel α-galactosidase A mutations causing the classical phenotype. J Hum Genet 2001;46:192–196.

Topaloglu AK , Ashley GA , Tong B , Shabbeer J , Astrin KH , Eng CM , Desnick RJ. Twenty novel mutations in the α-galactosidase A gene causing Fabry disease. Mol Med 1999;5:806–811.

Eng CM , Ashley GA , Burgert TS , Enriquez AL , D/Souza M , Desnick RJ. Fabry disease : Thirty-five mutations in the α-galactosidase A gene in patients with classic and variant phenotypes. Mol Med 1997;3:174–182.

Wang AM , Ioannou YA , Zeidner KM , Gotlib RW , Dikman S , Stewart CL , Desnick RJ. Generation of a mouse model with α-galactosidase A deficiency. Am J Hum Genet 1996;59A208.

Ohshima T , Murray GJ , Swaim WD , Longenecker G , Quirk JM , Cardarelli CO , Sugimoto Y , Pastan I , Gottesman MM , Brady RO , Kulkarni AB . α-Galactosidase A deficient mice: A model of Fabry disease. Proc Natl Acad Sci U S A 1997;94:2540–2544.

Ioannou YA , Zeidner KM , Gordon RE , Desnick RJ. Fabry disease : Preclinical studies demonstrate the effectiveness of α-galactosidase A replacement in enzyme-deficient mice. Am J Hum Genet 2001;68:14–25.

Ziegler RJ , Yew NS , Li C , Cherry M , Berthelette P , Romanczuk H , Ioannou YA , Zeidner KM , Desnick RJ , Cheng SH. Correction of enzymatic and lysosomal storage defects in Fabry mice by adenovirus-mediated gene transfer. Hum Gene Ther 1999;10:1667–1682.

Eng CM , Banikazemi M , Gordon RE , Goldman M , Phelps R , Kim L , Gass A , Winston J , Dikman S , Fallon JT , Brodie S , Stacy CB , Mehta D , Parsons R , Norton K , O/Callaghan M , Desnick RJ. A phase 1/2 clinical trial of enzyme replacement in Fabry disease: Pharmacokinetic substrate clearance, and safety studies. Am J Hum Genet 2001;68:711–722.

Eng CM , Guffon N , Wilcox WR , Germain DP , Lee P , Waldek S , Caplan L , Linthorst GE , Desnick RJ. Safety and efficacy of recombinant human α-galactosidase A replacement therapy in Fabry/s disease. N Engl J Med 2001;345:9–16.

Kornreich R , Desnick RJ , Bishop DF. Nucleotide sequence of the human α-galactosidase A gene. Nucleic Acids Res 1989;17:3301–3302.

Gordon JW , Scangos GA , Plotkin DJ , Barbosa JA , Ruddle FH. Genetic transformation of mouse embryos by microinjection of purified DNA. Proc Natl Acad Sci U S A 1980;77:7380–7384.

Gordon JW , Ruddle FH. Integration and stable germ line transmission of genes injected into mouse pronuclei. Science 1981;214:1244–1246.

Southern EM. Detection of specific sequences among DNA fragments separated by gel electrophoresis. J Mol Biol 1975;98:503–517.

Kornreich R , Desnick RJ. Fabry disease : Detection of gene rearrangements in the human α-galactosidase A gene by multiplex PCR amplification. Hum Mutat 1993;2:108–111.

Shuber AP , Grondin VJ , Klinger KW. A simplified procedure for developing multiplex PCRs. Genome Res 1995;5:488–493.

Desnick RJ , Allen KY , Desnick SJ , Raman MK , Bernlohr RW , Krivit W. Fabry/s disease: Enzymatic diagnosis of hemizygotes and heterozygotes—α-Galactosidase activities in plasma, serum, urine, and leukocytes. J Lab Clin Med 1973;81:157–171.

Wang AM , Bishop DF , Desnick RJ. Human α-N-acetylgalactosaminidase : Molecular cloning, nucleotide sequence, and expression of a full-length cDNA: Homology with human α-galactosidase A suggests evolution from a common ancestral gene. J Biol Chem 1990;265:21859–21866.

Bradford MM. A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding. Anal Biochem 1976;72:248–254.

Ishii S , Kase R , Sakuraba H , Taya C , Yonekawa H , Okumiya T , Matsuda Y , Mannen K , Takeshita M , Suzuki Y . α-Galactosidase transgenic mouse: Heterogeneous gene expression and posttranslational glycosylation in tissues. Glycoconj J 1998;15:591–594.

Brinster RL , Chen HY , Trumbauer M , Senear AW , Warren R , Palmiter RD. Somatic expression of herpes thymidine kinase in mice following injection of a fusion gene into eggs. Cell 1981;27:223–231.

Brinster RL , Chen HY , Warren R , Sarthy A , Palmiter RD. Regulation of metallothionein-thymidine kinase fusion plasmids injected into mouse eggs. Nature 1982;296:39–42.

Grosveld F , Antoniou M , van Assendelft GB , de Boer E , Hurst J , Kollias G , MacFarlane F , Wrighton N. The regulation of expression of human β-globin genes. Prog Clin Biol Res 1987;251:133–144.

Grosveld F , van Assendelft GB , Greaves DR , Kollias G . Position-independent, high-level expression of the human beta-globin gene in transgenic mice. Cell 1987;51:975–985.

Hammer RE , Krumlauf R , Camper SA , Brinster RL , Tilghman SM. Diversity of α-fetoprotein gene expression in mice is generated by a combination of separate enhancer elements. Science 1987;235:53–58.

Bird A. CpG-rich islands and the function of DNA methylation. Nature 1986;321:209–213.

Bishop DF , Kornreich R , Desnick RJ. Structural organization of the human α-galactosidase A gene: Further evidence for the absence of a 3′ untranslated region. Proc Natl Acad Sci U S A 1988;85:3903–3907.

Berquin IM , Sloane BF. Cathepsin B expression in human tumors. Adv Exp Med Biol 1996;389:281–294.

Cavailles V , Augereau P , Rochefort H. Cathepsin D gene is controlled by a mixed promoter, and estrogens stimulate only TATA-dependent transcription in breast cancer cells. Proc Natl Acad Sci U S A 1993;90:203–207.

Samac S , Rice JC , Ehrlich M. Analysis of methylation in the 5′ region of the human alpha-galactosidase A gene containing a binding site for methylated DNA- binding protein/RFX1-4. Biol Chem 1998;379:541–544.

Zhang XY , Asiedu CK , Supakar PC , Kahn R , Ehrlich KC , Ehrlich M. Binding sites in mammalian genes and viral gene regulatory regions recognized by methylated DNA-binding protein. Nucleic Acids Res 1991;18:6253–6260.

Fitzmaurice TF , Desnick RJ , Bishop DF. Human α-galactosidase A : High plasma activity expressed by the -30G→A allele. J Inherit Metab Dis 1997;20:643–657.

Saifudeen Z , Desnick RJ , Ehrlich M. A mutation in the 5′ untranslated region of the human alpha-galactosidase A gene in high-activity variants inhibits specific protein binding. FEBS Lett 1995;371:181–184.

Hornstra IK , Yang TP. High-resolution methylation analysis of the human hypoxanthine phosphoribosyltransferase gene 5′ region on the active and inactive X chromosome: Correlation with binding sites for transcription factors. Mol Cell Biol 1994;14:1419–1430.

Miyamura N , Araki E , Matsuda K , Yoshimura R , Furukawa N , Tsuruzoe K , Shirotani T , Kishikawa H , Yamaguchi K , Shichiri M. A carboxy-terminal truncation of human alpha-galactosidase A in a heterozygous female with Fabry disease and modification of the enzymatic activity by the carboxy-terminal domain. Increased, reduced, or absent enzyme activity depending on number of amino acid residues deleted. J Clin Invest 1996;98:1809–1817.

O/Brien JS , Miller AL , Loverde AW , Veath ML. Sanfilippo disease type B : Enzyme replacement and metabolic correction in cultured fibroblasts. Science 1973;181:753–755.

Oeltjen JC , Malley TM , Muzny DM , Miller W , Gibbs RA , Belmont JW. Large-scale comparative sequence analysis of the human and murine Bruton/s tyrosine kinase loci reveals conserved regulatory domains. Genome Res 1997;7:315–329.

Brinster RL , Chen HY , Trumbauer ME , Yagle MK , Palmiter RD. Factors affecting the efficiency of introducing foreign DNA into mice by microinjecting eggs. Proc Natl Acad Sci U S A 1985;82:4438–4442.

Stewart TA , Pattengale PK , Leder P. Spontaneous mammary adenocarcinomas in transgenic mice that carry and express MTV/myc fusion genes. Cell 1984;38:627–637.

Yew NS , Wysokenski DM , Wang KX , Ziegler RJ , Marshall J , McNeilly D , Cherry M , Osburn W , Cheng SH. Optimization of plasmid vectors for high-level expression in lung epithelial cells. Hum Gene Ther 1997;8:575–584.

Ioannou YA , Bishop DF , Desnick RJ. Overexpression of human α-galactosidase A results in its intracellular aggregation, crystallization in lysosomes and selective secretion. J Cell Biol 1992;119:1137–1150.