The contribution of evolutionarily volatile promoters to molecular phenotypes and human trait variation

• Published in: Genome Biology Vol. 23; no. 1; p. 89
• Main Authors: Young, Robert S, Talmane, Lana, Marion de Procé, Sophie, Taylor, Martin S
• Format: Journal Article
• Language: English
• Published: England BioMed Central 04.04.2022; BMC
• Subjects: Animals; Binding sites; Divergence; Evolution; Evolution & development; Gene deletion; Gene expression; Gene mapping; Genetic diversity; Genome, Human; Genomes; Humans; Insertion; Mammals; Molecular phenotype; Mutation; Mutation Rate; Mutation rates; Phenotype; Phenotypes; Phenotypic variations; Population; Promoter; Promoter Regions, Genetic; Promoters; QTL; Quantitative Trait Loci; RNA polymerase; Trait; Transcription initiation; Transcription regulation; Volatility; Promoter; QTL; Evolution; Molecular phenotype; Trait; Transcription regulation

Promoters are sites of transcription initiation that harbour a high concentration of phenotype-associated genetic variation. The evolutionary gain and loss of promoters between species (collectively, termed turnover) is pervasive across mammalian genomes and may play a prominent role in driving huma...