The Deep Intronic c.903+469T > C Mutation in the MTRR Gene Creates an SF2/ASF Binding Exonic Splicing Enhancer, Which Leads to Pseudoexon Activation and Causes the cbIE Type of Homocystinuria

Abstract

The study demonstrates by various methods that mutation c.903+469T>C activates a pseudoexon in the MTRR gene by increasing the affinity of an exon splicing enhancer for the SF2/ASF splicing factor.

Keywords

• MTRR
• ESE
• SF2/ASF
• Pre-mRNA splicing
• cblE
• homocystinuria
• methionine synthase reductase
• disease-causing mutations
• comparative genomics
• deficiency
• expression
• sequence
• donor
• disruption
• prediction
• resource