title: A splice variant of ADAMTS13 is expressed in human hepatic stellate cells and cancerous tissues.
abstract: 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.
authors.affiliation: Department of Cell and Developmental Biology, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
authors.forename: Noam
authors.initials: N
authors.lastname: Shomron
authors.forename: Nobuko
authors.initials: N
authors.lastname: Hamasaki-Katagiri
authors.forename: Ryan
authors.initials: R
authors.lastname: Hunt
authors.forename: Klilah
authors.initials: K
authors.lastname: Hershko
authors.forename: Elie
authors.initials: E
authors.lastname: Pommier
authors.forename: S
authors.initials: S
authors.lastname: Geetha
authors.forename: Adam
authors.initials: A
authors.lastname: Blaisdell
authors.forename: Alexandra
authors.initials: A
authors.lastname: Dobkin
authors.forename: Andrew
authors.initials: A
authors.lastname: Marple
authors.forename: Isabella
authors.initials: I
authors.lastname: Roma
authors.forename: Jordan
authors.initials: J
authors.lastname: Newell
authors.forename: Courtni
authors.initials: C
authors.lastname: Allen
authors.forename: Scott
authors.initials: S
authors.lastname: Friedman
authors.forename: Chava
authors.initials: C
authors.lastname: Kimchi-Sarfaty
mesh_terms: D051722:ADAM Proteins / Q000235:genetics / Q000378:metabolism*; D000071120:ADAMTS13 Protein; D017398:Alternative Splicing; D000818:Animals; D016466:CHO Cells; D006528:Carcinoma, Hepatocellular / Q000201:enzymology*; D045744:Cell Line, Tumor; D018389:Codon, Nonsense; D006224:Cricetinae; D003412:Cricetulus; D015971:Gene Expression Regulation, Enzymologic; D015972:Gene Expression Regulation, Neoplastic; D055166:Hepatic Stellate Cells / Q000201:enzymology*; D006801:Humans; D007438:Introns; D008113:Liver Neoplasms / Q000201:enzymology*; D020033:Protein Isoforms; D012333:RNA, Messenger / Q000378:metabolism; D013379:Substrate Specificity; D014162:Transfection; D014841:von Willebrand Factor / Q000378:metabolism
chemical_list: D018389:Codon, Nonsense; D020033:Protein Isoforms; D012333:RNA, Messenger; D014841:von Willebrand Factor; D051722:ADAM Proteins; D000071120:ADAMTS13 Protein; C099604:ADAMTS13 protein, human