Figure 1
From: Exon identity crisis: disease-causing mutations that disrupt the splicing code
Targets of single-nucleotide polymorphism-induced aberrant pre-mRNA splicing mutations. (a) Schematic diagram of the exon definition complex. 70Â K, 70Â kDa subunit of the U1 snRNP; ESE, exon splicing enhancer; RRM, RNA recognition motif protein domain; SR, serine-arginine rich protein domain; U1 snRNP, U1 small nuclear ribonucleoprotein; U2AF, U2 auxiliary factor; Y, pyrimidine nucleotide. Uppercase indicates donor and acceptor splice site dinucleotides, lowercase indicates adjacent consensus nucleotides. (b) Typical functionality of splicing regulatory elements in wild type (healthy) context. (c) Potential mechanisms for splicing-sensitive mutations. Green squares and arrows indicate splicing enhancers; red indicates silencers; solid boxes indicate constitutive or alternative exons; dashed boxes indicate pseudo-exons.