Human retina-specific amine oxidase (RAO): cDNA cloning, tissue expression, and chromosomal mapping

Journal Article · Sat Mar 01 00:00:00 EST 1997 · Genomics

DOI:https://doi.org/10.1006/geno.1996.4570· OSTI ID:518475

Imamura, Yutaka; Kubota, Ryo; Wang, Yimin ^[1]

---

1. Keio Univ. School of Medicine, Tokyo (Japan); and others

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 fluorescence in situ hybridization to human chromosome 17q21. We propose that AOC2 may be a candidate gene for hereditary ocular diseases. 38 refs., 4 figs.

• OSTI ID: 518475
• Journal Information: Genomics, Vol. 40, Issue 2; Other Information: PBD: 1 Mar 1997
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
AMINE OXIDASES
DNA-CLONING
GENE REGULATION
TISSUE DISTRIBUTION
GENETIC MAPPING
DNA SEQUENCING
TRANSCRIPTION
GENE MUTATIONS
HUMAN CHROMOSOME 17
SENSE ORGANS DISEASES
PATHOGENESIS
PATIENTS
HEREDITARY DISEASES
NUCLEOTIDES
PROTEINS
IN-SITU HYBRIDIZATION
FLUORESCENCE