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Gene Review

PDE6B  -  phosphodiesterase 6B, cGMP-specific, rod,...

Homo sapiens

Synonyms: CSNB3, CSNBAD2, GMP-PDE beta, PDEB, RP40, ...
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Disease relevance of PDE6B

  • Transgenic mice carrying the H258N mutation in the gene encoding the beta-subunit of phosphodiesterase-6 (PDE6B) provide a model for human congenital stationary night blindness [1].
  • The positive photoreceptor-rescue effect of calcium channel blockers reported in the rd mouse was thus not generalizable to another species with retinal degeneration due to mutation in the PDE6B gene [2].
  • All 22 exons including 196 bp of the 5' region of the PDEB gene have been assessed for mutations by using single-strand conformational polymorphism analysis in 14 patients from 13 unrelated families with autosomal recessive retinitis pigmentosa (ARRP) [3].
  • The two mutants, rd1 and rd2, thus far isolated have been analyzed for virus particle production (using radiolabeled precursors and by electron microscopy) and for the status of intracellular viral precursors [4].

High impact information on PDE6B


Chemical compound and disease context of PDE6B


Biological context of PDE6B

  • The exon organization of the PDE11A catalytic domain was very similar to those of PDE5A and PDE6B [10].
  • The molecular cloning of the cDNA encoding for the PDEB represents the first step in establishing whether this gene plays a causative role in any one of the several human hereditary retinopathies or, based on its localization to chromosome 4p 16.3, in the pathogenesis of Huntington disease [11].
  • This was followed by denaturing gradient gel electrophoresis (DGGE) and single-strand conformation polymorphism electrophoresis (SSCPE) of the 22 exons and a portion of the 5' untranslated region of the PDE6B gene in the probands of each family in which the PDE6B locus could not be ruled out from segregating with disease [12].
  • Initial analysis of the families was made with a dinucleotide repeat polymorphism adjacent to the gene for rod cGMP-phosphodiesterase (PDE6B) [12].
  • Missense mutations of the PDEB gene causing arRP have been reported in a limited region (codon 527-codon 699) in which codon 535 is located [13].

Anatomical context of PDE6B


Associations of PDE6B with chemical compounds

  • We tested the hypothesis that diltiazem treatment would similarly rescue the canine rcd1 model of RP, which is also caused by a null mutation in the PDE6B gene [2].
  • CONCLUSIONS: Isoleucine at codon 535 in the PDEB gene is conserved among various mammals [13].
  • Antigen PDEB was purified from pigeon dropping extracts and characterized as a basic glycoprotein, containing 93% protein and 7% carbohydrate, with a molecular weight of approximately 51,000 [14].
  • The two affected sisters are homozygous for a T to G transversion in codon 699 of the PDEB gene, leading to the substitution of a leucine by an arginine residue [15].

Other interactions of PDE6B

  • Thus, this family has adCSNB caused by a different gene from the previously identified RHO, PDE6B, and GNAT1 [16].
  • Individuals with CSNB in the Rambusch pedigree were found to carry the H258N allele of PDE6B (MIM# 180072); a similar mutation was not found in RP patients [1].
  • These genes include rhodopsin, beta-subunit of rod cGMP phosphodiesterase (PDEB), alpha-subunit of rod cGMP phosphodiesterase (PDEA), and alpha-subunit of rod cGMP-gated channel [13].

Analytical, diagnostic and therapeutic context of PDE6B


  1. Transgenic mice carrying the H258N mutation in the gene encoding the beta-subunit of phosphodiesterase-6 (PDE6B) provide a model for human congenital stationary night blindness. Tsang, S.H., Woodruff, M.L., Jun, L., Mahajan, V., Yamashita, C.K., Pedersen, R., Lin, C.S., Goff, S.P., Rosenberg, T., Larsen, M., Farber, D.B., Nusinowitz, S. Hum. Mutat. (2007) [Pubmed]
  2. Calcium channel blocker D-cis-diltiazem does not slow retinal degeneration in the PDE6B mutant rcd1 canine model of retinitis pigmentosa. Pearce-Kelling, S.E., Aleman, T.S., Nickle, A., Laties, A.M., Aguirre, G.D., Jacobson, S.G., Acland, G.M. Mol. Vis. (2001) [Pubmed]
  3. The search for mutations in the gene for the beta subunit of the cGMP phosphodiesterase (PDEB) in patients with autosomal recessive retinitis pigmentosa. Riess, O., Noerremoelle, A., Weber, B., Musarella, M.A., Hayden, M.R. Am. J. Hum. Genet. (1992) [Pubmed]
  4. A rapid screening procedure for the isolation of nonconditional replication mutants of Mason-Pfizer monkey virus: identification of a mutant defective in pol. Chatterjee, S., Bradac, J., Hunter, E. Virology (1985) [Pubmed]
  5. Autosomal recessive retinitis pigmentosa caused by mutations in the alpha subunit of rod cGMP phosphodiesterase. Huang, S.H., Pittler, S.J., Huang, X., Oliveira, L., Berson, E.L., Dryja, T.P. Nat. Genet. (1995) [Pubmed]
  6. Exclusion of DNA changes in the beta-subunit of the c-GMP phosphodiesterase gene as the cause for Huntington's disease. Riess, O., Noerremoelle, A., Collins, C., Mah, D., Weber, B., Hayden, M.R. Nat. Genet. (1992) [Pubmed]
  7. Apoptosis in retinal degeneration involves cross-talk between apoptosis-inducing factor (AIF) and caspase-12 and is blocked by calpain inhibitors. Sanges, D., Comitato, A., Tammaro, R., Marigo, V. Proc. Natl. Acad. Sci. U.S.A. (2006) [Pubmed]
  8. Gene for autosomal dominant congenital stationary night blindness maps to the same region as the gene for the beta-subunit of the rod photoreceptor cGMP phosphodiesterase (PDEB) in chromosome 4p16.3. Gal, A., Xu, S., Piczenik, Y., Eiberg, H., Duvigneau, C., Schwinger, E., Rosenberg, T. Hum. Mol. Genet. (1994) [Pubmed]
  9. Significant photoreceptor rescue by treatment with a combination of antioxidants in an animal model for retinal degeneration. Sanz, M.M., Johnson, L.E., Ahuja, S., Ekström, P.A., Romero, J., van Veen, T. Neuroscience (2007) [Pubmed]
  10. Genomic organization of the human phosphodiesterase PDE11A gene. Evolutionary relatedness with other PDEs containing GAF domains. Yuasa, K., Kanoh, Y., Okumura, K., Omori, K. Eur. J. Biochem. (2001) [Pubmed]
  11. The human beta-subunit of rod photoreceptor cGMP phosphodiesterase: complete retinal cDNA sequence and evidence for expression in brain. Collins, C., Hutchinson, G., Kowbel, D., Riess, O., Weber, B., Hayden, M.R. Genomics (1992) [Pubmed]
  12. Mutations in the PDE6B gene in autosomal recessive retinitis pigmentosa. Danciger, M., Blaney, J., Gao, Y.Q., Zhao, D.Y., Heckenlively, J.R., Jacobson, S.G., Farber, D.B. Genomics (1995) [Pubmed]
  13. A novel homozygous Ile535Asn mutation in the rod cGMP phosphodiesterase beta-subunit gene in two brothers of a Japanese family with autosomal recessive retinitis pigmentosa. Saga, M., Mashima, Y., Akeo, K., Kudoh, J., Oguchi, Y., Shimizu, N. Curr. Eye Res. (1998) [Pubmed]
  14. The antigens of pigeon breeder's disease. III. Immunologically related antigens of pigeon dropping extracts: PDE1,2,A and B. Fredricks, W.W., Tebo, T.H. Int. Arch. Allergy Appl. Immunol. (1980) [Pubmed]
  15. A novel mutation in exon 17 of the beta-subunit of rod phosphodiesterase in two RP sisters of a consanguineous family. Valverde, D., Solans, T., Grinberg, D., Balcells, S., Vilageliu, L., Bayés, M., Chivelet, P., Besmond, C., Goossens, M., González-Duarte, R., Baiget, M. Hum. Genet. (1996) [Pubmed]
  16. A dominant form of congenital stationary night blindness (adCSNB) in a large Chinese family. Liu, X., Zhuang, S., Hu, S., Zhang, F., Lin, B., Li, X., Xu, D., Chen, S.H. Ann. Hum. Genet. (2005) [Pubmed]
  17. Temporal and spatial expression patterns of the CRX transcription factor and its downstream targets. Critical differences during human and mouse eye development. Bibb, L.C., Holt, J.K., Tarttelin, E.E., Hodges, M.D., Gregory-Evans, K., Rutherford, A., Lucas, R.J., Sowden, J.C., Gregory-Evans, C.Y. Hum. Mol. Genet. (2001) [Pubmed]
  18. The antigens of pigeon breeder's disease. I. Studies on unfractionated pigeon dropping extracts. Fredricks, W.W., Tebo, T.H. Int. Arch. Allergy Appl. Immunol. (1977) [Pubmed]
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