| First Author | Lorenz B | Year | 1998 |
| Journal | Eur J Hum Genet | Volume | 6 |
| Issue | 3 | Pages | 283-90 |
| PubMed ID | 9781033 | Mgi Jnum | J:49020 |
| Mgi Id | MGI:1276323 | Doi | 10.1038/sj.ejhg.5200215 |
| Citation | Lorenz B, et al. (1998) Cloning and gene structure of the rod cGMP phosphodiesterase delta subunit gene (PDED) in man and mouse. Eur J Hum Genet 6(3):283-90 |
| abstractText | 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 Q-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. |
