HUMAN RETINA-SPECIFIC AMINE OXIDASE (RAO) - CDNA CLONING, TISSUE EXPRESSION, AND CHROMOSOMAL MAPPING

In search of candidate genes for hereditary retinal disease, we have e mployed a subtractive and differential cDNA cloning strategy and isola ted a novel retina-specific cDNA. Nucleotide sequence analysis reveale d an open reading frame of 2187 bp, which encodes a 729-amino-acid pro tein with a calculated molecular mass of 80,644 Da. The putative prote in contained a conserved domain of copper amine oxidase, which is foun d in various species from bacteria to mammals. It showed the highest h omology to bovine serum amine oxidase, which is believed to control th e level of serum biogenic amines. Northern blot analysis of human adul t 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 (RAG). The RAO gen e (AOC2) was mapped by fluorescence in situ hybridization to human chr omosome 17q21. We propose that AOC2 may be a candidate gene for heredi tary ocular diseases. (C) 1997 Academic Press.