The Human Accelerated Region HAR202 Controls NPAS3 Expression in the Developing Forebrain Displaying Differential Enhancer Activity Between Modern and Archaic Human Sequences
Caporale A, Cinalli A, Rubinstein M, Franchini L. The Human Accelerated Region HAR202 Controls NPAS3 Expression in the Developing Forebrain Displaying Differential Enhancer Activity Between Modern and Archaic Human Sequences. Molecular Biology And Evolution 2024, 41: msae186. PMID: 39241178, PMCID: PMC11461159, DOI: 10.1093/molbev/msae186.Peer-Reviewed Original ResearchArchaic humansHuman lineageLiving relativesNPAS3 expressionComparative functional analysisMouse developing brainNervous systemEnhancer reporter assaysZebrafish nervous systemOrthologous sequencesTransgenic miceDeveloping brainNucleotide substitutionsPhenotypic evolutionTranscriptional enhancersHuman sequenceChimpanzeesNeurodevelopmental genesCognitive abilitiesMiceHumansPhenotypic differencesHOMOReporter expressionExpression patternsAccelerated evolution in the human lineage led to gain and loss of transcriptional enhancers in the RBFOX1 locus
Berasain L, Beati P, Trigila A, Rubinstein M, Franchini L. Accelerated evolution in the human lineage led to gain and loss of transcriptional enhancers in the RBFOX1 locus. Science Advances 2024, 10: eadl1049. PMID: 38924416, PMCID: PMC11204294, DOI: 10.1126/sciadv.adl1049.Peer-Reviewed Original ResearchConceptsTranscriptional enhancersGoal of evolutionary biologyHuman lineageZebrafish reporter assayGene regulatory networksPotential regulatory elementsHuman-specific traitsChimpanzee sequencesRBFOX1 locusRegulatory elementsRegulatory networksRegulatory modificationsEvolutionary biologyAccelerated evolutionTarget genesGene expressionGenesDevelopmental stagesLociLineagesReporter assayExpressionRBFOX1SplicingTemporal changes