title: Primary structure of human 11-cis retinol dehydrogenase and organization and chromosomal localization of the corresponding gene.
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.
authors.affiliation: Ludwig Institute for Cancer Research, Stockholm Branch, Sweden.
authors.forename: A
authors.initials: A
authors.lastname: Simon
authors.forename: J
authors.initials: J
authors.lastname: Lagercrantz
authors.forename: S
authors.initials: S
authors.lastname: Bajalica-Lagercrantz
authors.forename: U
authors.initials: U
authors.lastname: Eriksson
mesh_terms: D000429:Alcohol Oxidoreductases / Q000737:chemistry / Q000235:genetics*; D000595:Amino Acid Sequence; D000818:Animals; D002417:Cattle; D002874:Chromosome Mapping; D002881:Chromosomes, Human, Pair 12; D003001:Cloning, Molecular; D018076:DNA, Complementary; D005128:Eye Diseases / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008969:Molecular Sequence Data; D017386:Sequence Homology, Amino Acid
chemical_list: D018076:DNA, Complementary; D000429:Alcohol Oxidoreductases; C022520:retinol dehydrogenase