PDE6B

From Wikipedia, the free encyclopedia

Phosphodiesterase 6B, cGMP-specific, rod, beta (congenital stationary night blindness 3, autosomal dominant)

Identifiers

PDE6B; CSNB3; PDEB; rd1

External IDs

Gene ontology
Molecular Function:	• hydrolase activity • 3',5'-cyclic-GMP phosphodiesterase activity
Cellular Component:	• membrane
Biological Process:	• signal transduction • visual perception • phototransduction, visible light • response to stimulus

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_000283 (mRNA)
NP_000274 (protein)

NM_008806 (mRNA)
NP_032832 (protein)

Location

Chr 4: 0.61 - 0.65 Mb

Chr 5: 108.63 - 108.67 Mb

Pubmed search

[1]

[2]

Phosphodiesterase 6B, cGMP-specific, rod, beta (congenital stationary night blindness 3, autosomal dominant), also known as PDE6B, is a human gene.^[1]

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]^[1]

[edit] References

^ ^a ^b Entrez Gene: PDE6B phosphodiesterase 6B, cGMP-specific, rod, beta (congenital stationary night blindness 3, autosomal dominant).

[edit] 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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.