N. Shomron (1), N. Hamasaki-Katagiri (2), R. Hunt (2), K. Hershko (2), E. Pommier (2), S. Geetha (2), A. Blaisdell (2), A. Marple (3), I. Roma (3), J. Newell (2), C. Allen (2), S. Friedman (4), C. Kimchi-Sarfaty (2)
(1) Department of Cell and Developmental Biology, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; (2) Center for Biologics Evaluation and Research, Food and Drug Administration, Bethesda, Maryland, USA; (3) Laboratory of Cell Biology, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA; (4) Division of Liver Diseases, Mount Sinai School of Medicine, New York, New York, USA
Although ADAMTS13, the von Willebrand factor (VWF)-cleaving protease, is expressed in a range of tissues, the physiological significance of tissue-specific ADAMTS13 alternative splicing isoforms have yet to be clarified. Screening a panel of human tissues and cell lines revealed a spliced ADAMTS13 transcript in hepatic stellate cells and a hepatoma cell line that retains the 25th intron. A nonsense codon within the intron truncates the protease, which gains 64 novel amino acids in lieu of both CUB domains. This isoform, while retaining VWF-cleaving capability, accumulates intracellularly and its biological inaccessibility may prevent its participation in regulating haemostasis and other physiologic functions.
ADAMTS13, TTP, alternative splicing, intron retention, CUB domain
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Theme Issue Article for Theme Issue "GTH - State of the Art"
V. Huck (1), M. F. Schneider (2), C. Gorzelanny (1), S. W. Schneider (1)
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