Modeling the Evolutionary Architectures of Transcribed Human Enhancer Sequences Reveals Distinct Origins, Functions, and Associations with Human Trait Variation.

ABSTRACT: Despite the importance of gene regulatory enhancers in human biology and evolution, we lack a comprehensive model of enhancer evolution and function. This substantially limits our understanding of the genetic basis of species divergence and our ability to interpret the effects of noncoding variants on human traits. To explore enhancer sequence evolution and its relationship to regulatory function, we traced the evolutionary origins of transcribed human enhancer sequences with activity across diverse tissues and cellular contexts from the FANTOM5 consortium. The transcribed enhancers are enriched for sequences of a single evolutionary age ("simple" evolutionary architectures) compared with enhancers that are composites of sequences of multiple evolutionary ages ("complex" evolutionary archi

SUBMITTER: Fong SL 

PROVIDER: S-EPMC8382917 | biostudies-literature | 2021 Aug

REPOSITORIES: biostudies-literature