Novo Nordisk Fonden - Biovidenskab og Basal Biomedicin - Pseudoexons as disease cause and modifiers of gene expression

Using our own software, we have found that introns in all human genes harbor pseudoexons (PEs). PEs are nonfunctional exons that disrupt the normal mRNA if they are included during splicing. Therefore PEs represents a vulnerable part of our genome. Typically inclusion of PEs lead to NMD degradation of the mRNA and this is therefore not recognized or simply observed as decreased expression of the affected gene. Intronic SNPs/mutations can affect splicing regulatory elements and activate PE inclusion to cause disease.