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

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.
AuthorsA Simon, J Lagercrantz, S Bajalica-Lagercrantz, U Eriksson
JournalGenomics (Genomics) Vol. 36 Issue 3 Pg. 424-30 (Sep 15 1996) ISSN: 0888-7543 [Print] UNITED STATES
PMID8884265 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
Chemical References
  • DNA, Complementary
  • Alcohol Oxidoreductases
  • retinol dehydrogenase
  • Alcohol Oxidoreductases (chemistry, 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

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