Primary structure of human 11-cis retinol dehydrogenase and organization and chromosomal localization of the corresponding gene

Genomics. 1996 Sep 15;36(3):424-30. doi: 10.1006/geno.1996.0487.

Abstract

The universal chromophore of visual pigments in higher animals is 11-cis retinaldehyde. The final step in the biosynthetic pathway generating this compound is catalyzed by 11-cis retinol dehydrogenase, a membrane-bound enzyme abundantly expressed in the retinal pigment epithelium of the eye. In this work we demonstrate that the primary structure of human 11-cis retinol dehydrogenase is highly conserved with 91% identity to the bovine enzyme. The gene encoding 11-cis retinol dehydrogenase spans over approximately 4.1 kb of DNA and is divided into four translated exons. Analysis of a panel of somatic cells hybrids and fluorescence in situ hybridization on metaphase chromosomes revealed that the gene is located on chromosome 12q13-q14. Due to the unique role of 11-cis retinol dehydrogenase in the generation of visual pigments, it is a candidate gene for involvement in hereditary eye disease.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alcohol Oxidoreductases / chemistry
  • Alcohol Oxidoreductases / genetics*
  • Amino Acid Sequence
  • Animals
  • Cattle
  • Chromosome Mapping
  • Chromosomes, Human, Pair 12*
  • Cloning, Molecular
  • DNA, Complementary
  • Eye Diseases / genetics
  • Humans
  • In Situ Hybridization, Fluorescence
  • Molecular Sequence Data
  • Sequence Homology, Amino Acid

Substances

  • DNA, Complementary
  • Alcohol Oxidoreductases
  • retinol dehydrogenase

Associated data

  • GENBANK/U43559