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Xenopus laevis as a Model to Identify Translation Impairment
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Xenopus laevis as a Model to Identify Translation Impairment

Published on: September 27, 2015

Elevated adenosine deaminase activity and hereditary hemolytic anemia. Evidence for abnormal translational control of

E G Chottiner, H J Cloft, A P Tartaglia

    The Journal of Clinical Investigation
    |March 1, 1987
    PubMed

    We have investigated the molecular basis of the marked elevation in erythrocyte adenosine deaminase (ADA) activity in a kindred with hereditary hemolytic anemia. Red cell ADA-specific activity was verified to be 70- to 100-fold normal levels. Western blots demonstrated a corresponding increase in erythrocyte ADA-specific immunoreactive protein. Analysis of genomic DNA revealed no evidence for amplification or major structural changes in the ADA gene. ADA-specific messenger RNA (mRNA) from proband reticulocytes was comparable in size and amount to mRNA from control reticulocytes. Translation of proband poly A+ reticulocyte mRNA in a rabbit reticulocyte lysate system and immunoprecipitation of 35S-labeled protein products with anti-ADA antibody yielded a band of approximately 42,000 apparent mol wt that was absent in translation products from control reticulocyte mRNAs. These data suggest that the increased ADA activity in red cells in this disorder results from the increased translation of an aberrant ADA mRNA.

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