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Nucleic Acids Research, 1995, Vol. 23, No. 14 2636-2640
© 1995

RNA

Editing of human {alpha}-galactosidase RNA resulting in a pyrimidine top purine conversion

F.J. Novo1,2, A. Kruszewski1,3,+, K.D macDermot1, G. Goldspink2 and D.C. Górecki1,3,*

1Department of Clinical Genetics Rowland Hill Street, London NW3 2PF, UK 2Department of Anatomy and Developemntal Biology Rowland Hill Street, London NW3 2PF, UK 3Molecular Neurobiology Unit, Royal Free Hospital School of Medicine Rowland Hill Street, London NW3 2PF, UK

*To whom correspondence should be addressed

Received April 20, 1995. Accepted June 12, 1995.

During a study of the gene coding for {alpha}-galactosidase (EC 3.2.1.22 [EC] ), 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-termlnal 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 or allelic variants were excluded. Hence, we propose RNA editing as a mechanism responsible for this base change in the {alpha}-galactosidase RNA.

Permanent address: Department of Immunology, Central Clinical Hospital, Military School of Medicine, CSK WAM, Szaserów 128, 00–909 Warsaw, Poland


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 Genome ResHome page
M. Blow, P. A. Futreal, R. Wooster, and M. R. Stratton
A survey of RNA editing in human brain
Genome Res., December 1, 2004; 14(12): 2379 - 2387.
[Abstract] [Full Text] [PDF]


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