PDE6B

Phosphodiesterase 6B, cGMP-specific, rod, beta (congenital stationary night blindness 3, autosomal dominant)
Identifiers
Symbols	PDE6B ; CSNB3; PDEB; rd1
External IDs	Template:OMIM5 Template:MGI HomoloGene: 237
Gene ontology Molecular function Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Biological process Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO
RNA expression pattern
File:PBB GE PDE6B 210304 at tn.png
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

Phosphodiesterase 6B, cGMP-specific, rod, beta (congenital stationary night blindness 3, autosomal dominant), also known as PDE6B, is a human gene.

Mice homozygous for the rd mutation display hereditary retinal degeneration which has been considered a model for human retinitis pigmentosa. In affected animals, the retinal rod photoreceptor cells begin degenerating at about postnatal day 8, and by 4 weeks no photoreceptors are left. Farber and Lolley (1974, 1976) showed that degeneration is preceded by accumulation of cyclic GMP in the retina and is correlated with deficient activity of the rod photoreceptor cGMP-phosphodiesterase. Bennett et al. (1996) tested the possibility of altering the course of retinal degeneration through subretinal injection of recombinant replication defective adenovirus that contained the murine cDNA for wildtype beta-PDE. Subretinal injection of rd mice was carried out 4 days after birth, before the onset of rd retinal degeneration. Following therapy, beta-PDE transcripts and enzyme activity were detected, and histologic studies revealed that photoreceptor cell death was significantly retarded.[supplied by OMIM]

Further reading

• Lerner LE, Piri N, Farber DB (2007). "Transcriptional and post-transcriptional regulation of the rod cGMP-phosphodiesterase beta-subunit gene. Recent advances and current concepts". Adv. Exp. Med. Biol. 572: 217–29. PMID 17249578.CS1 maint: Multiple names: authors list (link)
• Farber DB, Lolley RN (1976). "Enzymic basis for cyclic GMP accumulation in degenerative photoreceptor cells of mouse retina". Journal of cyclic nucleotide research. 2 (3): 139–48. PMID 6493.
• Bateman JB, Klisak I, Kojis T; et al. (1992). "Assignment of the beta-subunit of rod photoreceptor cGMP phosphodiesterase gene PDEB (homolog of the mouse rd gene) to human chromosome 4p16". Genomics. 12 (3): 601–3. PMID 1313787.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Altherr MR, Wasmuth JJ, Seldin MF; et al. (1992). "Chromosome mapping of the rod photoreceptor cGMP phosphodiesterase beta-subunit gene in mouse and human: tight linkage to the Huntington disease region (4p16.3)". Genomics. 12 (4): 750–4. PMID 1315306.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Collins C, Hutchinson G, Kowbel D; et al. (1992). "The human beta-subunit of rod photoreceptor cGMP phosphodiesterase: complete retinal cDNA sequence and evidence for expression in brain". Genomics. 13 (3): 698–704. PMID 1322354.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Catty P, Pfister C, Bruckert F, Deterre P (1992). "The cGMP phosphodiesterase-transducin complex of retinal rods. Membrane binding and subunits interactions". J. Biol. Chem. 267 (27): 19489–93. PMID 1326553.CS1 maint: Multiple names: authors list (link)
• Khramtsov NV, Feshchenko EA, Suslova VA; et al. (1993). "[Structural studies of cDNA and the gene for the beta-subunit of cGMP phosphodiesterase from human retina]". Bioorg. Khim. 18 (12): 1551–4. PMID 1338685.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Weber B, Riess O, Hutchinson G; et al. (1991). "Genomic organization and complete sequence of the human gene encoding the beta-subunit of the cGMP phosphodiesterase and its localisation to 4p 16.3". Nucleic Acids Res. 19 (22): 6263–8. PMID 1720239.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Farber DB, Lolley RN (1974). "Cyclic guanosine monophosphate: elevation in degenerating photoreceptor cells of the C3H mouse retina". Science. 186 (4162): 449–51. PMID 4369896.
• McLaughlin ME, Ehrhart TL, Berson EL, Dryja TP (1995). "Mutation spectrum of the gene encoding the beta subunit of rod phosphodiesterase among patients with autosomal recessive retinitis pigmentosa". Proc. Natl. Acad. Sci. U.S.A. 92 (8): 3249–53. PMID 7724547.CS1 maint: Multiple names: authors list (link)
• Gal A, Orth U, Baehr W; et al. (1994). "Heterozygous missense mutation in the rod cGMP phosphodiesterase beta-subunit gene in autosomal dominant stationary night blindness". Nat. Genet. 7 (4): 551. doi:10.1038/ng0894-551a. PMID 7951329.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Gal A, Orth U, Baehr W; et al. (1994). "Heterozygous missense mutation in the rod cGMP phosphodiesterase beta-subunit gene in autosomal dominant stationary night blindness". Nat. Genet. 7 (1): 64–8. doi:10.1038/ng0594-64. PMID 8075643.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• McLaughlin ME, Sandberg MA, Berson EL, Dryja TP (1993). "Recessive mutations in the gene encoding the beta-subunit of rod phosphodiesterase in patients with retinitis pigmentosa". Nat. Genet. 4 (2): 130–4. doi:10.1038/ng0693-130. PMID 8394174.CS1 maint: Multiple names: authors list (link)
• Khramtsov NV, Feshchenko EA, Suslova VA; et al. (1993). "The human rod photoreceptor cGMP phosphodiesterase beta-subunit. Structural studies of its cDNA and gene". FEBS Lett. 327 (3): 275–8. PMID 8394243.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Valverde D, Solans T, Grinberg D; et al. (1996). "A novel mutation in exon 17 of the beta-subunit of rod phosphodiesterase in two RP sisters of a consanguineous family". Hum. Genet. 97 (1): 35–8. PMID 8557257.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Danciger M, Blaney J, Gao YQ; et al. (1996). "Mutations in the PDE6B gene in autosomal recessive retinitis pigmentosa". Genomics. 30 (1): 1–7. doi:10.1006/geno.1995.0001. PMID 8595886.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Bennett J, Tanabe T, Sun D; et al. (1996). "Photoreceptor cell rescue in retinal degeneration (rd) mice by in vivo gene therapy". Nat. Med. 2 (6): 649–54. PMID 8640555.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Gao YQ, Danciger M, Zhao DY; et al. (1996). "Screening of the PDE6B gene in patients with autosomal dominant retinitis pigmentosa". Exp. Eye Res. 62 (2): 149–54. doi:10.1006/exer.1996.0019. PMID 8698075.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Suslova VA, Suslov ON, Kim EE, Lipkin VM (1996). "[Organization of the gene for the beta-subunit of human photoreceptor cyclic GMP phosphodiesterase]". Bioorg. Khim. 22 (4): 256–63. PMID 8768262.CS1 maint: Multiple names: authors list (link)
• Valverde D, Baiget M, Seminago R; et al. (1997). "Identification of a novel R552O mutation in exon 13 of the beta-subunit of rod phosphodiesterase gene in a Spanish family with autosomal recessive retinitis pigmentosa". Hum. Mutat. 8 (4): 393–4. doi:10.1002/humu.1380080403. PMID 8956055.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)