Complex Selection on Human Polyadenylation Signals Revealed by Polymorphism and Divergence Data.

ABSTRACT: Polyadenylation is a step of mRNA processing which is crucial for its expression and stability. The major polyadenylation signal (PAS) represents a nucleotide hexamer that adheres to the AATAAA consensus sequence. Over a half of human genes have multiple cleavage and polyadenylation sites, resulting in a great diversity of transcripts differing in function, stability, and translational activity. Here, we use available whole-genome human polymorphism data together with data on interspecies divergence to study the patterns of selection acting on PAS hexamers. Common variants of PAS hexamers are depleted of single nucleotide polymorphisms (SNPs), and SNPs within PAS hexamers have a reduced derived allele frequency (DAF) and increased conservation, indicating prevalent negative selection; at t

SUBMITTER: Kainov YA 

PROVIDER: S-EPMC4943204 | biostudies-literature | 2016 Jul

REPOSITORIES: biostudies-literature