Literature DB >> 8385352

Localization of a retroviral element within the rd gene coding for the beta subunit of cGMP phosphodiesterase.

C Bowes1, T Li, W N Frankel, M Danciger, J M Coffin, M L Applebury, D B Farber.   

Abstract

Retinal degeneration in the rd mouse is inherited as an autosomal recessive trait and is caused by a defect in the gene encoding the beta subunit of cGMP phosphodiesterase. Recently, a close genetic association of the rd gene with an endogenous xenotropic murine leukemia virus (Xmv-28) was established by linkage analysis using recombinant inbred strains of mice. In this study, genomic DNA mapping and sequence analyses clarify the position of the proviral sequences in relation to the rd gene. We find that the Xmv-28 provirus is integrated into intron I of the rd gene 1511 bp downstream of the exon-intron boundary. The transcriptional orientation of the provirus is opposite to that of the gene for the beta subunit of cGMP phosphodiesterase. Reverse transcription-PCR demonstrates that the integrated Xmv-28 sequences are transcribed in the retina. The provirus is present in every strain of rd mouse tested.

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Year:  1993        PMID: 8385352      PMCID: PMC46215          DOI: 10.1073/pnas.90.7.2955

Source DB:  PubMed          Journal:  Proc Natl Acad Sci U S A        ISSN: 0027-8424            Impact factor:   11.205


  24 in total

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Authors:  H E Varmus
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Authors:  W Herr
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Authors:  A Schnieke; K Harbers; R Jaenisch
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Authors:  R R O'Neill; C E Buckler; T S Theodore; M A Martin; R Repaske
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Authors:  K Harbers; M Kuehn; H Delius; R Jaenisch
Journal:  Proc Natl Acad Sci U S A       Date:  1984-03       Impact factor: 11.205

7.  Retinal degeneration is rescued in transgenic rd mice by expression of the cGMP phosphodiesterase beta subunit.

Authors:  J Lem; J G Flannery; T Li; M L Applebury; D B Farber; M I Simon
Journal:  Proc Natl Acad Sci U S A       Date:  1992-05-15       Impact factor: 11.205

8.  Identification of a nonsense mutation in the rod photoreceptor cGMP phosphodiesterase beta-subunit gene of the rd mouse.

Authors:  S J Pittler; W Baehr
Journal:  Proc Natl Acad Sci U S A       Date:  1991-10-01       Impact factor: 11.205

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Authors:  N G Copeland; K W Hutchison; N A Jenkins
Journal:  Cell       Date:  1983-06       Impact factor: 41.582

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Review 7.  Structural and molecular bases of rod photoreceptor morphogenesis and disease.

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