Exonic splice regulation imposes strong selection at synonymous sites

• Published in: Genome research Vol. 28; no. 10; pp. 1442 - 1454
• Main Authors: Savisaar, Rosina, Hurst, Laurence D
• Format: Journal Article
• Language: English
• Published: United States Cold Spring Harbor Laboratory Press 01.10.2018
• Subjects: Enhancer Elements, Genetic; Enhancers; Evolution; Evolution, Molecular; Exons; Gene Expression Regulation; Genetic disorders; Humans; Mutation; Natural selection; Nucleotide sequence; Polymorphism, Genetic; Regulation; Regulatory sequences; RNA Splice Sites; RNA Splicing; RNA, Messenger - genetics; RNA, Messenger - metabolism; Selection, Genetic; Silent Mutation; Splicing

What proportion of coding sequence nucleotides have roles in splicing, and how strong is the selection that maintains them? Despite a large body of research into exonic splice regulatory signals, these questions have not been answered. This is because, to our knowledge, previous investigations have...