Click here to close
Hello! We notice that you are using Internet Explorer, which is not supported by Xenbase and may cause the site to display incorrectly.
We suggest using a current version of Chrome,
FireFox, or Safari.
Invest Ophthalmol Vis Sci
2009 Jun 01;506:2591-8. doi: 10.1167/iovs.08-2010.
Show Gene links
Show Anatomy links
Regulatory sequences in the 3' untranslated region of the human cGMP-phosphodiesterase beta-subunit gene.
Verardo MR
,
Viczian A
,
Piri N
,
Akhmedov NB
,
Knox BE
,
Farber DB
.
???displayArticle.abstract???
Rod cGMP-phosphodiesterase, a key enzyme in visual transduction, is important for retinal integrity and function. Mutations in the gene encoding the phosphodiesterase beta-subunit (PDEbeta) cause retinal degeneration in animals and humans. Here the authors tested the hypothesis that elements in the 3' untranslated region (3' UTR) of the PDEbeta gene are involved in the regulation of PDEbeta expression. Involvement of the 3' UTR of PDEbeta mRNA in the regulation of PDEbeta expression was assessed by Y-79 retinoblastoma cells or the heads of Xenopus laevis tadpoles with constructs containing the SV40 or PDEbeta promoter, the luciferase cDNA, and either the SV40 or the PDEbeta 3' UTR (or fragments of its sequence). Compared with the SV40 3' UTR (used as control), the entire PDEbeta 3' UTR decreased reporter gene expression in Y-79 retinoblastoma cells as well as in SY5Y neuroblastoma and 293 human embryonic kidney cell lines. However, the authors observed that two 100-nucleotide fragments from the PDEbeta 3' UTR increased while its noncanonical poly-adenylation signal abolished reporter gene expression in Y-79 retinoblastoma cells and in ex vivo experiments using Xenopus tadpole heads. In particular, an 11-nucleotide element (EURE) in one of the 100-nucleotide fragments was responsible for the upregulation of luciferase expression. These studies indicate that the 3' UTR of the PDEbeta mRNA is involved in the complex regulation of this gene's expression in the retina. Moreover, the results show that the PDEbeta poly-A signal has a dominant inhibitory effect over two other regions in the 3' UTR that stimulate gene expression.
Batni,
Characterization of the Xenopus rhodopsin gene.
1996, Pubmed,
Xenbase
Batni,
Characterization of the Xenopus rhodopsin gene.
1996,
Pubmed
,
Xenbase
Bayés,
Homozygous tandem duplication within the gene encoding the beta-subunit of rod phosphodiesterase as a cause for autosomal recessive retinitis pigmentosa.
1995,
Pubmed
Bessant,
A mutation in NRL is associated with autosomal dominant retinitis pigmentosa.
1999,
Pubmed
Boado,
Ten nucleotide cis element in the 3'-untranslated region of the GLUT1 glucose transporter mRNA increases gene expression via mRNA stabilization.
1998,
Pubmed
Bowes,
Retinal degeneration in the rd mouse is caused by a defect in the beta subunit of rod cGMP-phosphodiesterase.
1990,
Pubmed
Chao,
A mammalian SRB protein associated with an RNA polymerase II holoenzyme.
1996,
Pubmed
Collins,
The human beta-subunit of rod photoreceptor cGMP phosphodiesterase: complete retinal cDNA sequence and evidence for expression in brain.
1992,
Pubmed
Conne,
The 3' untranslated region of messenger RNA: A molecular 'hotspot' for pathology?
2000,
Pubmed
Craft,
Cone arrestin identified by targeting expression of a functional family.
1994,
Pubmed
Danciger,
Mutations in the PDE6B gene in autosomal recessive retinitis pigmentosa.
1995,
Pubmed
Danciger,
A homozygous PDE6B mutation in a family with autosomal recessive retinitis pigmentosa.
1996,
Pubmed
Di Polo,
Rod photoreceptor-specific gene expression in human retinoblastoma cells.
1995,
Pubmed
Di Polo,
Isolation and initial characterization of the 5' flanking region of the human and murine cyclic guanosine monophosphate-phosphodiesterase beta-subunit genes.
1996,
Pubmed
Di Polo,
Transcriptional activation of the human rod cGMP-phosphodiesterase beta-subunit gene is mediated by an upstream AP-1 element.
1997,
Pubmed
Freund,
De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis.
1998,
Pubmed
Freund,
Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor.
1997,
Pubmed
Gal,
Heterozygous missense mutation in the rod cGMP phosphodiesterase beta-subunit gene in autosomal dominant stationary night blindness.
1994,
Pubmed
Gao,
Association of the Asn306Ser variant of the SP4 transcription factor and an intronic variant in the beta-subunit of transducin with digenic disease.
2007,
Pubmed
Grzybowska,
Regulatory functions of 3'UTRs.
2001,
Pubmed
Hurwitz,
Immunologic characterization of the photoreceptor outer segment cyclic GMP phosphodiesterase.
1984,
Pubmed
Keene,
Why is Hu where? Shuttling of early-response-gene messenger RNA subsets.
1999,
Pubmed
Lerner,
The rod cGMP-phosphodiesterase beta-subunit promoter is a specific target for Sp4 and is not activated by other Sp proteins or CRX.
2002,
Pubmed
,
Xenbase
Lerner,
Transcriptional regulation of the cGMP phosphodiesterase beta-subunit gene.
2000,
Pubmed
Lerner,
Nrl and Sp nuclear proteins mediate transcription of rod-specific cGMP-phosphodiesterase beta-subunit gene: involvement of multiple response elements.
2001,
Pubmed
,
Xenbase
Liu,
Role of the 3'-untranslated region of RPE65 mRNA in the translational regulation of the RPE65 gene: identification of a specific translation inhibitory element.
1998,
Pubmed
Mani,
Immediate upstream sequence of arrestin directs rod-specific expression in Xenopus.
1999,
Pubmed
,
Xenbase
McLaughlin,
Recessive mutations in the gene encoding the beta-subunit of rod phosphodiesterase in patients with retinitis pigmentosa.
1993,
Pubmed
McLaughlin,
Mutation spectrum of the gene encoding the beta subunit of rod phosphodiesterase among patients with autosomal recessive retinitis pigmentosa.
1995,
Pubmed
Pesole,
Structural and functional features of eukaryotic mRNA untranslated regions.
2001,
Pubmed
Piri,
Translational regulation of the rod photoreceptor cGMP-phosphodiesterase: the role of the 5'- and 3'-untranslated regions.
2006,
Pubmed
Piri,
Differential expression of rod photoreceptor cGMP-phosphodiesterase alpha and beta subunits: mRNA and protein levels.
2003,
Pubmed
Sheets,
Point mutations in AAUAAA and the poly (A) addition site: effects on the accuracy and efficiency of cleavage and polyadenylation in vitro.
1990,
Pubmed
Suber,
Irish setter dogs affected with rod/cone dysplasia contain a nonsense mutation in the rod cGMP phosphodiesterase beta-subunit gene.
1993,
Pubmed
Tanguay,
Translational efficiency is regulated by the length of the 3' untranslated region.
1996,
Pubmed
Weber,
Genomic organization and complete sequence of the human gene encoding the beta-subunit of the cGMP phosphodiesterase and its localisation to 4p 16.3.
1991,
Pubmed