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Molecular characterization of human and bovine rod photoreceptor cGMP phosphodiesterase alpha-subunit and chromosomal localization of the human gene

Academic Article
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Overview

authors

  • Pittler, S. J.
  • Baehr, W.
  • Wasmuth, J. J.
  • McConnell, D. G.
  • Champagne, M. S.
  • Vantuinen, P.
  • Ledbetter, D.
  • Davis, Ronald

publication date

  • February 1990

journal

  • Genomics  Journal

abstract

  • Defects in proteins that function in photoreceptor signal transduction are prime suspects as causes of some human hereditary retinal degenerations. We have characterized cDNA clones encoding the alpha-subunit of human and bovine rod cell cGMP phosphodiesterase a key phototransduction enzyme. Clones from both species contain an open reading frame capable of coding for an approximately 100-kDa polypeptide of 859 amino acids, 94% of which are identical. Two or more transcripts were detected in both human and bovine retinal poly(A)+ RNA preparations, although the human transcripts ranging from 5.3 to 4.9 kb are significantly larger than the two bovine transcripts of 4.6 and 4.0 kb. The bovine and human genes appear to exist in single copy, with the bovine gene spanning more than 140 kb of genomic DNA. Somatic cell hybrids were used to map the human gene to the long arm of chromosome 5 (5q31.2----q34). Finally, the use of the candidate gene approach in the study of hereditary retinal dystrophies is discussed.

subject areas

  • 3',5'-Cyclic-GMP Phosphodiesterases
  • Amino Acid Sequence
  • Animals
  • Base Sequence
  • Cattle
  • Chromosome Mapping
  • Chromosomes, Human, Pair 5
  • DNA
  • Genes
  • Humans
  • Hybrid Cells
  • Molecular Sequence Data
  • Photoreceptor Cells
  • Retinal Diseases
  • Sequence Homology, Nucleic Acid
  • Transcription, Genetic
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Identity

International Standard Serial Number (ISSN)

  • 0888-7543

Digital Object Identifier (DOI)

  • 10.1016/0888-7543(90)90567-e

PubMed ID

  • 2155175
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Additional Document Info

start page

  • 272

end page

  • 283

volume

  • 6

issue

  • 2

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