Human retina-specific amine oxidase: Genomic structure of the gene (AOC2), alternatively spliced variant, and mRNA expression in retina

Yutaka Imamura, Setsuko Noda, Yukihiko Mashima, Jun Kudoh, Yoshihisa Oguchi, Nobuyoshi Shimizu

Research output: Contribution to journalArticle

30 Citations (Scopus)

Abstract

Previously, we reported the isolation of cDNA for human retina-specific amine oxidase (RAO) and the expression of RAO exclusively in retina. Bacterial artificial chromosome clones containing the human RAO gene (AOC2) were mapped to human chromosome 17q21 (Imamura et al., 1997, Genomics 40: 277-283). Here, we report the complete genomic structure of the RAO gene, including 5' flanking sequence, and mRNA expression in retina. The human RAO gene spans 6 kb and is composed of four exons corresponding to the amino acid sequence 1-530, 530-598, 598-641, and 642-729 separated by three introns of 3000, 310, and 351 bp. Screening of a human retina cDNA library revealed the existence of an alternatively spliced cDNA variant with an additional 81 bp at the end of exon 2. The sizes of exons and the locations of exon/intron boundaries in the human RAO gene showed remarkable similarity to those of the human kidney diamine oxidase gene (AOC1). In situ hybridization revealed that mRNA coding for RAO is expressed preferentially in the ganglion cell layer of the mouse retina. We designed four sets of PCR primers to amplify four exons, which will be valuable for analyzing mutations in patients with ocular diseases affecting the retinal ganglion cell layer.

Original languageEnglish
Pages (from-to)293-298
Number of pages6
JournalGenomics
Volume51
Issue number2
DOIs
Publication statusPublished - 1998 Jul 15

ASJC Scopus subject areas

  • Genetics

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