Accelerated 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 changesA 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 processHumanized dopamine D4.7 receptor male mice display risk‐taking behavior and deficits of social recognition and working memory in light/dark‐dependent manner
Alachkar A, Phan A, Dabbous T, Alhassen S, Alhassen W, Reynolds B, Rubinstein M, Ferré S, Civelli O. Humanized dopamine D4.7 receptor male mice display risk‐taking behavior and deficits of social recognition and working memory in light/dark‐dependent manner. Journal Of Neuroscience Research 2024, 102: e25299. PMID: 38361407, PMCID: PMC11503891, DOI: 10.1002/jnr.25299.Peer-Reviewed Original ResearchConceptsPsychiatric disordersBehavioral phenotypesImpaired social recognition memoryEtiology of psychiatric disordersAttention-deficit hyperactivity disorderDopamine D<sub>4</sub> receptor (DWorking memory deficitsSocial recognition memoryDark phaseRisk-taking behaviorRecognition memoryWorking memoryMemory deficitsR miceIncreased risk behaviorSocial recognitionSpecific behaviorsBehavioral featuresDisordersMale miceDopaminePotential causal relationshipRisk behaviorsLight phaseDeficits