Gene Symbol: Pde6a
Description: phosphodiesterase 6A, cGMP-specific, rod, alpha
Alias: Pdea, nmf282, rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha, GMP-PDE alpha, cGMP phosphodiesterase alpha
Species: mouse
Products:     Pde6a

Top Publications

  1. Li T, Volpp K, Applebury M. Bovine cone photoreceptor cGMP phosphodiesterase structure deduced from a cDNA clone. Proc Natl Acad Sci U S A. 1990;87:293-7 pubmed
    ..The presence of a C-terminal CAAX (Cys-aliphatic-aliphatic-Xaa) motif suggests the cone enzyme may be posttranslationally modified by proteolysis, methylation, and isoprenylation. ..
  2. Pittler S, Zhang Y, Chen S, Mears A, Zack D, Ren Z, et al. Functional analysis of the rod photoreceptor cGMP phosphodiesterase alpha-subunit gene promoter: Nrl and Crx are required for full transcriptional activity. J Biol Chem. 2004;279:19800-7 pubmed
    ..expression of the cGMP phosphodiesterase type 6 (PDE6) genes, we have characterized the promoter of the human PDE6A gene that encodes the catalytic alpha-subunit...
  3. Bibb L, Holt J, Tarttelin E, Hodges M, Gregory Evans K, Rutherford A, et al. Temporal and spatial expression patterns of the CRX transcription factor and its downstream targets. Critical differences during human and mouse eye development. Hum Mol Genet. 2001;10:1571-9 pubmed
    ..These data support concerns about the extent to which we can extrapolate from rodent models regarding embryonic development and disease pathophysiology. ..
  4. Lipkin V, Khramtsov N, Vasilevskaya I, Atabekova N, Muradov K, Gubanov V, et al. Beta-subunit of bovine rod photoreceptor cGMP phosphodiesterase. Comparison with the phosphodiesterase family. J Biol Chem. 1990;265:12955-9 pubmed
    ..The beta-subunit is 72% identical to the rod cGMP phosphodiesterase alpha-subunit...
  5. Wong B, Chan J, Cazenave Gassiot A, Poh R, Foo J, Galam D, et al. Mfsd2a Is a Transporter for the Essential ω-3 Fatty Acid Docosahexaenoic Acid (DHA) in Eye and Is Important for Photoreceptor Cell Development. J Biol Chem. 2016;291:10501-14 pubmed publisher
    ..These findings identify LPC transport via Mfsd2a as an important pathway for DHA uptake in eye and for development of photoreceptor membrane discs. ..
  6. Sothilingam V, Garcia Garrido M, Jiao K, Buena Atienza E, Sahaboglu A, Trifunović D, et al. Retinitis pigmentosa: impact of different Pde6a point mutations on the disease phenotype. Hum Mol Genet. 2015;24:5486-99 pubmed publisher
    Mutations in the PDE6A gene can cause rod photoreceptors degeneration and the blinding disease retinitis pigmentosa (RP)...
  7. Deng W, Sakurai K, Kolandaivelu S, Kolesnikov A, Dinculescu A, Li J, et al. Cone phosphodiesterase-6?' restores rod function and confers distinct physiological properties in the rod phosphodiesterase-6?-deficient rd10 mouse. J Neurosci. 2013;33:11745-53 pubmed publisher
    ..Together, these results demonstrate that cone PDE6?' can functionally substitute for rod PDE?? in vivo, conferring treated rods with distinct physiological properties. ..
  8. Kolandaivelu S, Huang J, Hurley J, Ramamurthy V. AIPL1, a protein associated with childhood blindness, interacts with alpha-subunit of rod phosphodiesterase (PDE6) and is essential for its proper assembly. J Biol Chem. 2009;284:30853-61 pubmed publisher
    ..Our studies establish that AIPL1 interacts with the catalytic subunit (alpha) of PDE6 and is needed for the proper assembly of functional rod PDE6 subunits. ..
  9. Yau K, Baylor D. Cyclic GMP-activated conductance of retinal photoreceptor cells. Annu Rev Neurosci. 1989;12:289-327 pubmed

More Information


  1. Won J, Shi L, Hicks W, Wang J, Naggert J, Nishina P. Translational vision research models program. Adv Exp Med Biol. 2012;723:391-7 pubmed publisher
    ..The new alleles described herein will be a useful resource to further examine the role of the affected molecules and the effects of their disruption within the retina. ..
  2. Kolandaivelu S, Chang B, Ramamurthy V. Rod phosphodiesterase-6 (PDE6) catalytic subunits restore cone function in a mouse model lacking cone PDE6 catalytic subunit. J Biol Chem. 2011;286:33252-9 pubmed publisher
    ..Interestingly, we also found that functional PDE6 is required for trafficking of M-opsin to cone outer segments. ..
  3. Wert K, Sancho Pelluz J, Tsang S. Mid-stage intervention achieves similar efficacy as conventional early-stage treatment using gene therapy in a pre-clinical model of retinitis pigmentosa. Hum Mol Genet. 2014;23:514-23 pubmed publisher
  4. Sikela J, Adamson M, Wilson Shaw D, Kozak C. Genetic mapping of the gene for Ca2+/calmodulin-dependent protein kinase IV (Camk-4) to mouse chromosome 18. Genomics. 1990;8:579-82 pubmed
    ..This raises the possibility that a defect in Camk-4 may be responsible for one of these mutant phenotypes. ..
  5. Bazhin A, Tambor V, Dikov B, Philippov P, Schadendorf D, Eichmüller S. cGMP-phosphodiesterase 6, transducin and Wnt5a/Frizzled-2-signaling control cGMP and Ca(2+) homeostasis in melanoma cells. Cell Mol Life Sci. 2010;67:817-28 pubmed publisher
    ..Thus, the aberrant expression of PDE6 may control cGMP metabolism and calcium homeostasis in melanoma cells. ..
  6. Baehr W, Champagne M, Lee A, Pittler S. Complete cDNA sequences of mouse rod photoreceptor cGMP phosphodiesterase alpha- and beta-subunits, and identification of beta'-, a putative beta-subunit isozyme produced by alternative splicing of the beta-subunit gene. FEBS Lett. 1991;278:107-14 pubmed
    ..A 300 residue segment thought to contain the active site is present in the C-terminal half of alpha, beta and beta'. ..
  7. Danciger M, Kozak C, Adamson M, Farber D. Chromosomal localization of the murine genes for the alpha- and beta-subunits of calcium/calmodulin-dependent protein kinase II. Mamm Genome. 1992;3:122-5 pubmed
  8. Taylor R, Shows K, Zhao Y, Pittler S. A PDE6A promoter fragment directs transcription predominantly in the photoreceptor. Biochem Biophys Res Commun. 2001;282:543-7 pubmed
    ..mice were established to determine the spatial expression pattern directed by an upstream fragment of the PDE6A gene...
  9. Barren B, Gakhar L, Muradov H, Boyd K, Ramaswamy S, Artemyev N. Structural basis of phosphodiesterase 6 inhibition by the C-terminal region of the gamma-subunit. EMBO J. 2009;28:3613-22 pubmed publisher
    ..Comparison of the two PDE5/6cd structures shows an overlap between the sildenafil and Pgamma(70-87)-binding sites, thereby providing critical insights into the side effects of PDE5 inhibitors on vision. ..
  10. Mu J, Naggert J, Nishina P, Cheah Y, Paigen B. Strain distribution pattern in AXB and BXA recombinant inbred strains for loci on murine chromosomes 10, 13, 17, and 18. Mamm Genome. 1993;4:148-52 pubmed
    ..D17Mit20, D17Mit3, D17Mit2, D18Mit17, D18Mit9, and D18Mit4), the restriction fragment length polymorphisms Pdea and Csfmr, and the biochemical marker AS-1...
  11. Murphy D, Singh R, Kolandaivelu S, Ramamurthy V, Stoilov P. Alternative Splicing Shapes the Phenotype of a Mutation in BBS8 To Cause Nonsyndromic Retinitis Pigmentosa. Mol Cell Biol. 2015;35:1860-70 pubmed publisher
    ..These intronic sequences are sufficient for photoreceptor-cell-specific splicing of heterologous exons, including an exon with a randomized sequence. ..
  12. Sakamoto K, McCluskey M, Wensel T, Naggert J, Nishina P. New mouse models for recessive retinitis pigmentosa caused by mutations in the Pde6a gene. Hum Mol Genet. 2009;18:178-92 pubmed publisher
    ..positional candidate cloning strategy, we have identified missense mutations within the catalytic domain of the Pde6a gene in two mouse models from an ethyl nitrosourea chemical mutagenesis screen...
  13. Ronquillo C, Hanke Gogokhia C, Revelo M, Frederick J, Jiang L, Baehr W. Ciliopathy-associated IQCB1/NPHP5 protein is required for mouse photoreceptor outer segment formation. FASEB J. 2016;30:3400-3412 pubmed
    ..Ronquillo, C. C., Hanke-Gogokhia, C., Revelo, M. P., Frederick, J. M., Jiang, L., Baehr, W. Ciliopathy-associated IQCB1/NPHP5 protein is required for mouse photoreceptor outer segment formation. ..
  14. Wert K, Davis R, Sancho Pelluz J, Nishina P, Tsang S. Gene therapy provides long-term visual function in a pre-clinical model of retinitis pigmentosa. Hum Mol Genet. 2013;22:558-67 pubmed publisher
    ..These results suggest that RP due to PDE6? deficiency in humans, in addition to PDE6? deficiency, is also likely to be treatable by gene therapy. ..
  15. Goto M, Ikeyama K, Tsutsumi M, Denda S, Denda M. Phosphodiesterase inhibitors block the acceleration of skin permeability barrier repair by red light. Exp Dermatol. 2011;20:568-71 pubmed publisher
    ..Our results indicate phosphodiesterase 6 is involved in the recovery-accelerating effect of red light on the disrupted epidermal permeability barrier. ..
  16. Danciger M, Kozak C, Li T, Applebury M, Farber D. Genetic mapping demonstrates that the alpha-subunit of retinal cGMP-phosphodiesterase is not the site of the rd mutation. Exp Eye Res. 1990;51:185-9 pubmed
    ..We have used a bovine cDNA for the alpha-subunit of cGMP-PDE to map its gene Pdea to mouse chromosome 18 at a distance of 21 centimorgans (cM) from the Mbp locus...
  17. Ovchinnikov YuA -, Lipkin V, Kumarev V, Gubanov V, Khramtsov N, Akhmedov N, et al. Cyclic GMP phosphodiesterase from cattle retina. Amino acid sequence of the gamma-subunit and nucleotide sequence of the corresponding cDNA. FEBS Lett. 1986;204:288-92 pubmed
    ..The enzyme gamma-subunit contains 87 amino acid residues, its N-terminal amino group being acetylated. ..
  18. Ovchinnikov YuA -, Gubanov V, Khramtsov N, Ischenko K, Zagranichny V, Muradov K, et al. Cyclic GMP phosphodiesterase from bovine retina. Amino acid sequence of the alpha-subunit and nucleotide sequence of the corresponding cDNA. FEBS Lett. 1987;223:169-73 pubmed
    ..The partial primary structure of the enzyme beta-subunit has also been elucidated. A significant homology has been found between the alpha- and beta-subunits of cGMP phosphodiesterase. ..
  19. Johnson K, Davisson M. A multipoint genetic linkage map of mouse chromosome 18. Genomics. 1992;13:1143-9 pubmed
    ..3-Tpi-10-11.8-(Egr-1, Hmg17-rs9)-2.1-Fgfa-2.2-Grl-1-10.1-(Cdx-1, Csfmr, Pdgfrb, Pdea, Rps14)-2.1-Adrb-2-22.9-Mbp...