8.2% of the Human genome is constrained: variation in rates of turnover across functional element classes in the human lineage.

ABSTRACT: Ten years on from the finishing of the human reference genome sequence, it remains unclear what fraction of the human genome confers function, where this sequence resides, and how much is shared with other mammalian species. When addressing these questions, functional sequence has often been equated with pan-mammalian conserved sequence. However, functional elements that are short-lived, including those contributing to species-specific biology, will not leave a footprint of long-lasting negative selection. Here, we address these issues by identifying and characterising sequence that has been constrained with respect to insertions and deletions for pairs of eutherian genomes over a range of divergences. Within noncoding sequence, we find increasing amounts of mutually constrained sequence a

SUBMITTER: Rands CM 

PROVIDER: S-EPMC4109858 | biostudies-literature | 2014 Jul

REPOSITORIES: biostudies-literature