Resumen:
Systemic lupus erythematosus (SLE) and Rheumatoid arthritis (RA) are systemic and
autoimmune rheumatic diseases resulting from the loss of immune self tolerance through
overproduction and secretion of cytokines by leukocytes. Here we show that the expression
of RSAD2, a type 1 interferon-inducible gene involved in broad antiviral cell responses, is
increased in SLE and RA patients in the form of two novel shorter isoforms. Sequencing of
the whole cDNA for these novel RSAD2 isoforms show they are originated from the
simultaneous use of 5´ and 3´ alternative splicing sites in the pre-mRNAs of two previously
reported RSAD2 isoforms. This form of alternative splicing produces isoforms that lack
important functional domains that renders them unable to both fight viral infections and
interfere with the secretion of soluble proteins, like cytokines. Our work suggests a link
between alternative splicing in humans and rheumatic diseases.
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