The newly discovered Titin internal promoter may explain why the severity of dilated cardiomyopathy in patients with truncating mutations in Titin varies dramatically depending on position of the mutation.
Jonathan O Nelson, Kristin A Moore ... Mark M Metzstein
Excess expression of the Gadd45 mRNA accounts for lethality when nonsense-mediated decay is lost in Drosophila and mammalian cells, revealing that this pathway is a critical gene regulatory mechanism.