[HTML][HTML] Identification of loss of function mutations in human genes encoding RIG-I and MDA5: implications for resistance to type I diabetes
T Shigemoto, M Kageyama, R Hirai, JP Zheng… - Journal of biological …, 2009 - ASBMB
Retinoic acid-inducible gene I (RIG-I) and melanoma differentiation-associated gene 5
(MDA5) are essential for detecting viral RNA and triggering antiviral responses, including
production of type I interferon. We analyzed the phenotype of non-synonymous mutants of
human RIG-I and MDA5 reported in databases by functional complementation in cell
cultures. Of seven missense mutations of RIG-I, S183I, which occurs within the second
caspase recruitment domain repeat, inactivated this domain and conferred a dominant …
(MDA5) are essential for detecting viral RNA and triggering antiviral responses, including
production of type I interferon. We analyzed the phenotype of non-synonymous mutants of
human RIG-I and MDA5 reported in databases by functional complementation in cell
cultures. Of seven missense mutations of RIG-I, S183I, which occurs within the second
caspase recruitment domain repeat, inactivated this domain and conferred a dominant …