Editing of Human Alpha-galactosidase RNA Resulting in a Pyrimidine to Purine Conversion

Overview

Journal Nucleic Acids Res

Publisher Oxford University Press

Specialty Biochemistry

Date 1995 Jul 25

PMID 7503918

Citations 10

Authors

F J Novo

A Kruszewski

K D Macdermot

G Goldspink

D C Gorecki

Affiliations

Soon will be listed here.

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.

Citing Articles

Integrated sequencing of exome and mRNA of large-sized single cells.

Wang L, Guo J, Cao W, Zhang M, He J, Li Z Sci Rep. 2018; 8(1):384.

PMID: 29321653 PMC: 5762704. DOI: 10.1038/s41598-017-18730-y.

Enigmatic in vivo GlcNAc-1-phosphotransferase (GNPTG) transcript correction to wild type in two mucolipidosis III gamma siblings homozygous for nonsense mutations.

Velho R, Ludwig N, Alegra T, Sperb-Ludwig F, Guarany N, Matte U J Hum Genet. 2016; 61(6):555-60.

PMID: 26935170 DOI: 10.1038/jhg.2016.13.

When you can't trust the DNA: RNA editing changes transcript sequences.

Knoop V Cell Mol Life Sci. 2010; 68(4):567-86.

PMID: 20938709 PMC: 11114842. DOI: 10.1007/s00018-010-0538-9.

Structure-function relationships in alpha-galactosidase A.

Garman S Acta Paediatr. 2007; 96(455):6-16.

PMID: 17391432 PMC: 3065945. DOI: 10.1111/j.1651-2227.2007.00198.x.

Transglycosylation: a mechanism for RNA modification (and editing?).

Garcia G, Kittendorf J Bioorg Chem. 2005; 33(3):229-51.

PMID: 15888313 PMC: 2802272. DOI: 10.1016/j.bioorg.2005.01.001.

References

Zuker M, Stiegler P . Optimal computer folding of large RNA sequences using thermodynamics and auxiliary information. Nucleic Acids Res. 1981; 9(1):133-48. PMC: 326673. DOI: 10.1093/nar/9.1.133. View

Nutt S, Hoo K, Rampersad V, Deverill R, Elliott C, Fletcher E . Molecular characterization of the human EAA5 (GluR7) receptor: a high-affinity kainate receptor with novel potential RNA editing sites. Recept Channels. 1994; 2(4):315-26. View

Gribskov M, Burgess R, Devereux J . PEPPLOT, a protein secondary structure analysis program for the UWGCG sequence analysis software package. Nucleic Acids Res. 1986; 14(1):327-34. PMC: 339416. DOI: 10.1093/nar/14.1.327. View

Bishop D, Calhoun D, Bernstein H, Hantzopoulos P, Quinn M, Desnick R . Human alpha-galactosidase A: nucleotide sequence of a cDNA clone encoding the mature enzyme. Proc Natl Acad Sci U S A. 1986; 83(13):4859-63. PMC: 323842. DOI: 10.1073/pnas.83.13.4859. View

Benne R, van den Burg J, Brakenhoff J, Sloof P, VAN Boom J, Tromp M . Major transcript of the frameshifted coxII gene from trypanosome mitochondria contains four nucleotides that are not encoded in the DNA. Cell. 1986; 46(6):819-26. DOI: 10.1016/0092-8674(86)90063-2. View

Tsuji S, Martin B, Kaslow D, MIGEON B, Choudary P, Stubbleflied B . Signal sequence and DNA-mediated expression of human lysosomal alpha-galactosidase A. Eur J Biochem. 1987; 165(2):275-80. DOI: 10.1111/j.1432-1033.1987.tb11438.x. View

Powell L, Wallis S, Pease R, Edwards Y, Knott T, Scott J . A novel form of tissue-specific RNA processing produces apolipoprotein-B48 in intestine. Cell. 1987; 50(6):831-40. DOI: 10.1016/0092-8674(87)90510-1. View

Jameson B, Wolf H . The antigenic index: a novel algorithm for predicting antigenic determinants. Comput Appl Biosci. 1988; 4(1):181-6. DOI: 10.1093/bioinformatics/4.1.181. View

Kornreich R, Desnick R, Bishop D . Nucleotide sequence of the human alpha-galactosidase A gene. Nucleic Acids Res. 1989; 17(8):3301-2. PMC: 317741. DOI: 10.1093/nar/17.8.3301. View

10.

Beutler E, Gelbart T . Gaucher disease associated with a unique KpnI restriction site: identification of the amino-acid substitution. Ann Hum Genet. 1990; 54(2):149-53. DOI: 10.1111/j.1469-1809.1990.tb00371.x. View

11.

Bostrom K, Garcia Z, Poksay K, Johnson D, Lusis A, Innerarity T . Apolipoprotein B mRNA editing. Direct determination of the edited base and occurrence in non-apolipoprotein B-producing cell lines. J Biol Chem. 1990; 265(36):22446-52. View

12.

Kojima T, Ishimaru S, Higashijima S, Takayama E, Akimaru H, Sone M . Identification of a different-type homeobox gene, BarH1, possibly causing Bar (B) and Om(1D) mutations in Drosophila. Proc Natl Acad Sci U S A. 1991; 88(10):4343-7. PMC: 51655. DOI: 10.1073/pnas.88.10.4343. View

13.

Shah R, Knott T, Legros J, Navaratnam N, Greeve J, Scott J . Sequence requirements for the editing of apolipoprotein B mRNA. J Biol Chem. 1991; 266(25):16301-4. View

14.

Sommer B, Kohler M, Sprengel R, Seeburg P . RNA editing in brain controls a determinant of ion flow in glutamate-gated channels. Cell. 1991; 67(1):11-9. DOI: 10.1016/0092-8674(91)90568-j. View

15.

Hodges P, Scott J . Apolipoprotein B mRNA editing: a new tier for the control of gene expression. Trends Biochem Sci. 1992; 17(2):77-81. DOI: 10.1016/0968-0004(92)90506-5. View

16.

Beier H, Lee M, Sekiya T, Kuchino Y, Nishimura S . Two nucleotides next to the anticodon of cytoplasmic rat tRNA(Asp) are likely generated by RNA editing. Nucleic Acids Res. 1992; 20(11):2679-83. PMC: 336907. DOI: 10.1093/nar/20.11.2679. View

17.

Backus J, Smith H . Three distinct RNA sequence elements are required for efficient apolipoprotein B (apoB) RNA editing in vitro. Nucleic Acids Res. 1992; 20(22):6007-14. PMC: 334467. DOI: 10.1093/nar/20.22.6007. View

18.

Lonergan K, Gray M . Editing of transfer RNAs in Acanthamoeba castellanii mitochondria. Science. 1993; 259(5096):812-6. DOI: 10.1126/science.8430334. View

19.

Janke A, Paabo S . Editing of a tRNA anticodon in marsupial mitochondria changes its codon recognition. Nucleic Acids Res. 1993; 21(7):1523-5. PMC: 309357. DOI: 10.1093/nar/21.7.1523. View

20.

Teng B, Burant C, Davidson N . Molecular cloning of an apolipoprotein B messenger RNA editing protein. Science. 1993; 260(5115):1816-9. DOI: 10.1126/science.8511591. View