2022
Population-level variation in enhancer expression identifies disease mechanisms in the human brain
Dong P, Hoffman G, Apontes P, Bendl J, Rahman S, Fernando M, Zeng B, Vicari J, Zhang W, Girdhar K, Townsley K, Misir R, Brennand K, Haroutunian V, Voloudakis G, Fullard J, Roussos P. Population-level variation in enhancer expression identifies disease mechanisms in the human brain. Nature Genetics 2022, 54: 1493-1503. PMID: 36163279, PMCID: PMC9547946, DOI: 10.1038/s41588-022-01170-4.Peer-Reviewed Original ResearchConceptsExpression quantitative trait lociPopulation-level variationTranscriptome-wide association studyQuantitative trait lociSpecific transcriptomeTrait lociTrait heritabilitySpecific transcriptionEnhancer functionGenetic mechanismsTarget genesAssociation studiesDisease locusNeuropsychiatric diseasesRisk variantsGenesRobust expressionTranscriptomeFunctional interpretationDisease mechanismsEnhancerDiseased statesLociHuman brainBrain samples
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
2019
Integrating the Epigenome to Identify Drivers of Hepatocellular Carcinoma
Hlady RA, Sathyanarayan A, Thompson JJ, Zhou D, Wu Q, Pham K, Lee J, Liu C, Robertson KD. Integrating the Epigenome to Identify Drivers of Hepatocellular Carcinoma. Hepatology 2019, 69: 639-652. PMID: 30136421, PMCID: PMC6351162, DOI: 10.1002/hep.30211.Peer-Reviewed Original ResearchConceptsHistone modification profilesPromoter/enhancer functionGenome-wide assessmentTranscription of genesEpigenetic marksHistone modificationsEpigenome deregulationEpigenetic regulatorsBioinformatics strategyEpigenetic mechanismsModification profilesEpigenetic underpinningsLiver epigenomeEpigenetic profilesEnhancer functionEpigenetic parametersEpigenomeDecrease cell viabilityDriver lociSignificant deregulationCancer initiationTranscriptionHuman cancersCancer cell linesCell lines
1990
The mouse albumin enhancer contains a negative regulatory element that interacts with a novel DNA-binding protein.
Herbst RS, Boczko EM, Darnell JE, Babiss LE. The mouse albumin enhancer contains a negative regulatory element that interacts with a novel DNA-binding protein. Molecular And Cellular Biology 1990, 10: 3896-3905. PMID: 2370857, PMCID: PMC360900, DOI: 10.1128/mcb.10.8.3896.Peer-Reviewed Original ResearchConceptsDNA-binding sitesMouse albumin enhancerNovel DNA-binding proteinAlbumin enhancerNegative regulatory domainDNA-binding proteinsNegative regulatory regionDNA-binding activityNegative regulatory elementPositive-acting elementsOrientation-independent fashionRegulatory domainRegulatory regionsAlbumin gene transcriptionGene transcriptionRegulatory elementsEnhancer functionNew proteinsCap siteTissue specificityAlbumin geneCell typesProteinNonhepatic cellsEnhancerThe Mouse Albumin Enhancer Contains a Negative Regulatory Element That Interacts with a Novel DNA-Binding Protein
Herbst R, Boczko E, Darnell J, Babiss L. The Mouse Albumin Enhancer Contains a Negative Regulatory Element That Interacts with a Novel DNA-Binding Protein. Molecular And Cellular Biology 1990, 10: 3896-3905. DOI: 10.1128/mcb.10.8.3896-3905.1990.Peer-Reviewed Original ResearchDNA-binding sitesMouse albumin enhancerNovel DNA binding proteinAlbumin enhancerNegative regulatory domainDNA binding proteinNegative regulatory regionDNA-binding activityNegative regulatory elementPositive-acting elementsOrientation-independent fashionRegulatory domainRegulatory regionsAlbumin gene transcriptionGene transcriptionRegulatory elementsEnhancer functionNew proteinsCap siteTissue specificityAlbumin geneCell typesProteinNonhepatic cellsEnhancer
This site is protected by hCaptcha and its Privacy Policy and Terms of Service apply