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Signal sequence and DNA-mediated expression of human lysosomal alpha-galactosidase A.
Twelve complementary DNA clones for human lysosomal alpha-galactosidase A were isolated from an Okayama-Berg library constructed from SV40-transformed human fibroblasts. The identity of these clones was confirmed by complete colinearity of the nucleotide-deduced amino acid sequence with that determined by direct chemical sequencing of human placental alpha-galactosidase A. Hybridization of the alpha-galactosidase A cDNA to genomic DNA from individuals with varying numbers of X chromosomes as well as from interspecies somatic-cell hybrids showed only a single locus in the genome at Xq 13.1-Xq 22. One cDNA clone (pcD-AG210) contained the complete coding sequence for both the signal peptide and mature alpha-galactosidase A. The signal peptide of 31 amino acids contains the expected hydrophobic domains consisting of Leu-Gly-Cys-Ala-Leu-Ala-Leu and Phe-Leu-Ala-Leu-Val and has Ala at the signal peptidase cleavage site. Twelve out of fifteen G residues flanking the 5' end of the cDNA in pcD-AG210 were removed and the truncated fragment was ligated into the original vector. This construct, pcD-AG502, encoded enzymatically active human alpha-galactosidase A in monkey COS cells.
PMID: 3036505 [PubMed - indexed for MEDLINE]
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Cited by 9 PubMed Central articles
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alpha-Galactosidase A deficient mice: a model of Fabry disease.
Ohshima T, Murray GJ, Swaim WD, Longenecker G, Quirk JM, Cardarelli CO, Sugimoto Y, Pastan I, Gottesman MM, Brady RO, et al.
Proc Natl Acad Sci U S A. 1997 Mar 18; 94(6):2540-4.
[Proc Natl Acad Sci U S A. 1997]
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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.
Miyamura N, Araki E, Matsuda K, Yoshimura R, Furukawa N, Tsuruzoe K, Shirotani T, Kishikawa H, Yamaguchi K, Shichiri M.
J Clin Invest. 1996 Oct 15; 98(8):1809-17.
[J Clin Invest. 1996]
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Editing of human alpha-galactosidase RNA resulting in a pyrimidine to purine conversion.
Novo FJ, Kruszewski A, MacDermot KD, Goldspink G, Górecki DC.
Nucleic Acids Res. 1995 Jul 25; 23(14):2636-40.
[Nucleic Acids Res. 1995]
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