Elsevier

Genomics

Volume 40, Issue 2, 1 March 1997, Pages 277-283
Genomics

Regular Article
Human Retina-Specific Amine Oxidase (RAO): cDNA Cloning, Tissue Expression, and Chromosomal Mapping

https://doi.org/10.1006/geno.1996.4570Get rights and content

Abstract

In search of candidate genes for hereditary retinal disease, we have employed a subtractive and differential cDNA cloning strategy and isolated a novel retina-specific cDNA. Nucleotide sequence analysis revealed an open reading frame of 2187 bp, which encodes a 729-amino-acid protein with a calculated molecular mass of 80,644 Da. The putative protein contained a conserved domain of copper amine oxidase, which is found in various species from bacteria to mammals. It showed the highest homology to bovine serum amine oxidase, which is believed to control the level of serum biogenic amines. Northern blot analysis of human adult and fetal tissues revealed that the protein is expressed abundantly and specifically in retina as a 2.7-kb transcript. Thus, we considered this protein a human retina-specific amine oxidase (RAO). The RAO gene (AOC2) was mapped by fluorescencein situhybridization to human chromosome 17q21. We propose that AOC2 may be a candidate gene for hereditary ocular diseases.

References (39)

  • S. Sawai et al.

    Hiatamine H1-receptor in the retina: Species differences

    Biochem. Biophys. Res. Commun.

    (1988)
  • K. Tanizawa et al.

    Cloning and sequencing of phenylethylamine oxidase fromArthrobactor globiformis

    Biochem. Biophys. Res. Commun.

    (1994)
  • K. Yamaki et al.

    The sequence of human retinal S-antigen reveals similarities with a transducin

    FEBS Lett.

    (1988)
  • S. Asakawa et al.

    Human BAC library: Construction and rapid screening

    Gene

    (1997)
  • S. Bardien et al.

    An eighth locus for autosomal dominant retinitis pigmentosa is linked to chromosome 17q

    Hum. Mol. Genet.

    (1995)
  • C. Bowes et al.

    Retinal degeneration in therd

    Nature

    (1990)
  • C.P. Caron et al.

    Putrescine, a source of γ-aminobutyric acid in the adrenal gland of the rat

    Biochem. J.

    (1988)
  • T.P. Dryja et al.

    A point mutation of the rhodopsin gene in one form of retinitis pigmentosa

    Nature

    (1990)
  • T.P. Dryja et al.

    Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa

    Proc. Natl. Acad. Sci. USA

    (1995)
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      Besides AOC1, three additional AOC genes have been identified. A retina-specific amine oxidase with unknown function is encoded by AOC2 (8) and vascular adhesion protein-1 (VAP-1) by AOC3 (9). The VAP-1 enzyme is an endothelial transmembrane protein that mediates leukocyte rolling and putatively transmigration during inflammation (10).

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      The translated sequences of AOC2 and AOC3 share 65% identity, but AOC1 only shares ∼38% identity with either AOC2 or AOC3 [43]. The Tyr precursor for TPQ, the active-site base (i.e. Asp), three His for the copper-binding site, and a Tyr residue that has a hydrogen bond interaction with the TPQ cofactor are all conserved [44–46]. AOC1 and AOC2 contain predicted secretion signals at their N-termini, while AOC3 does not contain a secretion signal, but has a helical transmembrane (type II) domain.

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    Sequence data from this article have been deposited with the DDBJ/GenBank/EMBL Data Libraries under Accession No. D88213.

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