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Evolutionary Innovations in Conserved Regulatory Elements Associate With Developmental Genes in Mammals.


ABSTRACT: Transcriptional enhancers orchestrate cell type- and time point-specific gene expression programs. Genetic variation within enhancer sequences is an important contributor to phenotypic variation including evolutionary adaptations and human disease. Certain genes and pathways may be more prone to regulatory evolution than others, with different patterns across diverse organisms, but whether such patterns exist has not been investigated at a sufficient scale. To address this question, we identified signatures of accelerated sequence evolution in conserved enhancer elements throughout the mammalian phylogeny at an unprecedented scale. While different genes and pathways were enriched for regulatory evolution in different parts of the tree, we found a striking overall pattern of pleiotropic gen

SUBMITTER: Uebbing S 

PROVIDER: S-EPMC11465374 | biostudies-literature | 2024 Oct

REPOSITORIES: biostudies-literature