Cloning and gene structure of the rod cGMP phosphodiesterase delta subunit gene (PDED) in man and mouse

Eur J Hum Genet. 1998 May-Jun;6(3):283-90. doi: 10.1038/sj.ejhg.5200215.

Abstract

Rod-specific cGMP phosphodiesterase (PDE) is a key enzyme of the phototransduction cascade, and mutations in its catalytic subunits have been associated with retinal degenerative diseases. The bovine delta-subunit solubilises the normally membrane-bound PDE and is the only subunit expressed in extraocular tissues. We isolated the human and mouse orthologs, and found 78% identity at the DNA level and 98% identity at the protein level. The Caenorhabditis elegans homolog shows 69% identity at the protein level. The human PDED gene consisted of 5 exons spanning at least 30 kb of genomic DNA. Northern blot analysis showed a 1.3 kb transcript in human retina, heart, brain, placenta, liver, and skeletal muscle. Fluorescence in situ hybridisation (FISH) and radiation hybrid mapping localised the human PDED gene to chromosome 2q37. A preliminary screen of all 5 exons in 20 unrelated patients with autosomal recessive retinitis pigmentosa revealed no PDED mutations.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • 3',5'-Cyclic-GMP Phosphodiesterases / genetics*
  • Amino Acid Sequence
  • Animals
  • Base Sequence
  • Cattle
  • Chromosome Mapping
  • Cloning, Molecular
  • DNA Primers
  • DNA, Complementary
  • Exons
  • Humans
  • Introns
  • Mice
  • Molecular Sequence Data
  • Mutation
  • Polymorphism, Single-Stranded Conformational
  • RNA, Messenger / genetics
  • Sequence Homology, Amino Acid
  • Sequence Homology, Nucleic Acid
  • Species Specificity

Substances

  • DNA Primers
  • DNA, Complementary
  • RNA, Messenger
  • 3',5'-Cyclic-GMP Phosphodiesterases

Associated data

  • GENBANK/AF039216
  • GENBANK/AF042833
  • GENBANK/AF042834
  • GENBANK/AF042835

Grants and funding