title: Editing of human alpha-galactosidase RNA resulting in a pyrimidine to purine conversion.
abstract: During a study of the gene coding for alpha-galactosidase (EC 3.2.1.22), the lysosomal enzyme deficient in Fabry's disease, RT-PCR amplification of alpha-galactosidase mRNAs obtained from three different tissues isolated from males revealed a substantial number of clones with a U to A conversion at the nucleotide position 1187. Such a modification of the coding sequence would result in an amino acid substitution in the C-terminal region (Phe396Tyr) of the enzyme. Neither PCR analysis of the genomic sequence nor the RT-PCR amplification of RNA obtained by in vitro transcription of the wild-type cDNA showed this change in the sequence. Multiple genes, pseudogenes are allelic variants were excluded. Hence, we propose RNA editing as a mechanism responsible for this base change in the alpha-galactosidase RNA.
authors.affiliation: Department of Clinical Genetics, Royal Free Hospital School of Medicine, London, UK.
authors.forename: F J
authors.initials: FJ
authors.lastname: Novo
authors.forename: A
authors.initials: A
authors.lastname: Kruszewski
authors.forename: K D
authors.initials: KD
authors.lastname: MacDermot
authors.forename: G
authors.initials: G
authors.lastname: Goldspink
authors.forename: D C
authors.initials: DC
authors.lastname: Górecki
mesh_terms: D001483:Base Sequence; D017931:DNA Primers / Q000235:genetics; D018076:DNA, Complementary / Q000737:chemistry / Q000235:genetics; D015252:Deoxyribonucleases, Type II Site-Specific; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009690:Nucleic Acid Conformation; D016133:Polymerase Chain Reaction; D017393:RNA Editing / Q000235:genetics*; D000519:alpha-Galactosidase / Q000235:genetics*
chemical_list: D017931:DNA Primers; D018076:DNA, Complementary; D015252:Deoxyribonucleases, Type II Site-Specific; C040158:GTAC-specific type II deoxyribonucleases; D000519:alpha-Galactosidase