2020
Massively parallel discovery of human-specific substitutions that alter enhancer activity
Uebbing S, Gockley J, Reilly SK, Kocher AA, Geller E, Gandotra N, Scharfe C, Cotney J, Noonan JP. Massively parallel discovery of human-specific substitutions that alter enhancer activity. Proceedings Of The National Academy Of Sciences Of The United States Of America 2020, 118: e2007049118. PMID: 33372131, PMCID: PMC7812811, DOI: 10.1073/pnas.2007049118.Peer-Reviewed Original ResearchConceptsHuman-specific substitutionsHuman-gained enhancersGenetic changesEnhancer functionEnhancer activityHuman-specific genetic changesHuman evolutionGene regulatory elementsBackground genetic variationAncestral functionRegulatory evolutionEnhancer assaysGenetic variationRegulatory elementsNeural stem cellsHuman traitsNovel activityNonadditive wayRegulatory activityStem cellsFunctional impactDifferential activityParallel discoveryEnhancerEvolution
2006
Accelerated Evolution of Conserved Noncoding Sequences in Humans
Prabhakar S, Noonan JP, Pääbo S, Rubin EM. Accelerated Evolution of Conserved Noncoding Sequences in Humans. Science 2006, 314: 786-786. PMID: 17082449, DOI: 10.1126/science.1130738.Peer-Reviewed Original ResearchConceptsNoncoding sequencesNeuronal cell adhesionConserved Noncoding SequencesCis-regulatory changesHuman-specific substitutionsCell adhesionHuman regulatory sequencesPhenotypic divergenceAdaptive substitutionsGene regulationAccelerated evolutionIndependent evolutionRegulatory sequencesAdhesion genesHuman evolutionNeuronal phenotypeDifferent neuronal phenotypesGenesSequenceSimilar enrichmentBrain developmentChimpanzeesEvolutionMammalsAdhesion