Transcript mutations of the alpha regulatory subunit of protein kinase A and up-regulation of the RNA-editing gene transcript in lupus T lymphocytes.

Background: Systemic lupus erythematosus (SLE) is an autoimmune disorder characterised by diverse dysfunctions of immune effector cells, including proliferation and cytotoxicity. In T cells from patients with SLE, activity of type 1 protein kinase A isozymes is greatly reduced because of decreased e...

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Published in:Lancet Vol. 360; no. 9336; pp. 842 - 850
Main Authors: Laxminarayana, Dama, Khan, Islam U, Kammer, Gary
Format: research Journal Article
Published: Lancet 9/14/2002
Online Access:View this record in EBSCOhost
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      dt: 9/14/2002
      vid: 360
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      pub: Lancet
      place: Philadelphia, Pennsylvania
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        10.1016/s0140-6736(02)09966-x
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        atl: Transcript mutations of the alpha regulatory subunit of protein kinase A and up-regulation of the RNA-editing gene transcript in lupus T lymphocytes.
      aug:
        au:
          Laxminarayana, Dama
          Khan, Islam U
          Kammer, Gary
        affil: Section on Rheumatology and Clinical Immunology, Department of Internal Medicine, Wake Forest University School of Medicine, Winston-Salem, NC 27157, USA
      sug:
        subj:
          RNA
          Transferases
          Mutation
          T Lymphocytes Metabolism
          Lupus Erythematosus, Systemic
          Genes
          Proteins
          Hydrolases
          DNA
          Nucleotides
          Male
          Sequence Analysis
          Prospective Studies
          Biochemical Phenomena
          Phosphotransferases
          Lupus Erythematosus, Systemic Immunology
          Female
          Human
          Adult
          Gene Expression Physiology
          Carrier Proteins
          Validation Studies
          Comparative Studies
          Evaluation Research
          Multicenter Studies
          Adult: 19-44 years
          Male
          Female
      ab: Background: Systemic lupus erythematosus (SLE) is an autoimmune disorder characterised by diverse dysfunctions of immune effector cells, including proliferation and cytotoxicity. In T cells from patients with SLE, activity of type 1 protein kinase A isozymes is greatly reduced because of decreased expression of the alpha and beta regulatory subunits (RI alpha and RI beta). We aimed to identify a molecular mechanism or mechanisms for this isozyme deficiency by assessing occurrence of mutations in transcripts of the RI alpha subunit in patients with SLE.Methods: We cloned and sequenced cDNA of RI alpha and corresponding genomic DNA of the coding region to detect sequence changes from eight patients with SLE and six healthy controls. Because transcript editing is regulated by adenosine deaminases that act on RNA (ADAR), we quantified expression of ADAR1 transcripts in SLE and control T cells by competitive PCR.Findings: Sequence analyses of cDNA showed heterogeneous transcript mutations, including deletions, transitions, and transversions. We identified 1.22 x 10(-3)/bp transcript mutations in SLE T cells-a frequency 7.5 times higher than that in control T cells. By contrast, we identified no genomic mutations. Two hotspots were identified in the RI alpha subunit transcripts from SLE T cells, one located adjacent to a pseudosubstrate site of the RI alpha subunit and the other a component of the cAMP binding A domain. ADAR1 mRNA content was 3.5 times higher in SLE cells than in control T cells (p=0.001).Interpretation: An RNA-editing enzyme could be converting adenosine to inosine within double-stranded regions of RNA, resulting in transcript mutations. This process could be one mechanism resulting in mutations in the RI alpha subunit of type 1 protein kinase A.
      pubtype: Academic Journal
      doctype:
        research
        Journal Article
      ougenre: Article
    language: English
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