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 patternsA mammalian tripartite enhancer cluster controls hypothalamic Pomc expression, food intake, and body weight
Rojo D, Hael C, Soria A, de Souza F, Low M, Franchini L, Rubinstein M. A mammalian tripartite enhancer cluster controls hypothalamic Pomc expression, food intake, and body weight. Proceedings Of The National Academy Of Sciences Of The United States Of America 2024, 121: e2322692121. PMID: 38652744, PMCID: PMC11067048, DOI: 10.1073/pnas.2322692121.Peer-Reviewed Original ResearchConceptsFood intakeControl of food intakeHypothalamic POMC expressionBody weight homeostasisHypothalamic arcuate neuronsConvergent evolutionary processesReporter gene expressionPurifying selectionArcuate neuronsDeletion eventsMouse genomeMolecular evolutionWeight homeostasisFemale miceAdult micePOMC expressionTranscriptional enhancersMutant miceEnhancer mutantsTranscription factorsPlacental mammalsMammalian ordersGene expressionMiceEvolutionary process