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. 1995 Jul 25;23(14):2636–2640. doi: 10.1093/nar/23.14.2636

Editing of human alpha-galactosidase RNA resulting in a pyrimidine to purine conversion.

F J Novo 1, A Kruszewski 1, K D MacDermot 1, G Goldspink 1, D C Górecki 1
PMCID: PMC307086  PMID: 7503918

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.

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Selected References

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