2020
Loss of Extreme Long-Range Enhancers in Human Neural Crest Drives a Craniofacial Disorder
Long H, Osterwalder M, Welsh I, Hansen K, Davies J, Liu Y, Koska M, Adams A, Aho R, Arora N, Ikeda K, Williams R, Sauka-Spengler T, Porteus M, Mohun T, Dickel D, Swigut T, Hughes J, Higgs D, Visel A, Selleri L, Wysocka J. Loss of Extreme Long-Range Enhancers in Human Neural Crest Drives a Craniofacial Disorder. Cell Stem Cell 2020, 27: 765-783.e14. PMID: 32991838, PMCID: PMC7655526, DOI: 10.1016/j.stem.2020.09.001.Peer-Reviewed Original ResearchConceptsPierre Robin sequenceClusters of enhancersNon-coding mutationsHuman craniofacial disordersRegulate SOX9 expressionLong-range enhancersCell differentiation modelCraniofacial disordersGene desertSOX9 geneMorphological variationGene expressionGenesSynergistic activitySOX9 expressionPhenotypic specificityProgenitor developmentRobin sequenceCongenital malformationsEnhanced activityMouse modelEnhanceropathiesExpressionRestricted windowExpression reduction
2009
Transcriptional features of genomic regulatory blocks
Akalin A, Fredman D, Arner E, Dong X, Bryne J, Suzuki H, Daub C, Hayashizaki Y, Lenhard B. Transcriptional features of genomic regulatory blocks. Genome Biology 2009, 10: r38. PMID: 19374772, PMCID: PMC2688929, DOI: 10.1186/gb-2009-10-4-r38.Peer-Reviewed Original ResearchMeSH KeywordsAcetylationBase SequenceCell DifferentiationConserved SequenceCpG IslandsEpigenesis, GeneticGene Expression RegulationGene Regulatory NetworksGenome, HumanHumansMacrophagesModels, GeneticPromoter Regions, GeneticRegulatory Sequences, Nucleic AcidTranscription Initiation SiteTranscription, GeneticConceptsTranscription start siteRegulatory inputsTarget genesStart siteRegulatory blocksMapping of transcription start sitesTranscription Factor Binding SitesAlternative transcription start sitesGenomic regulatory blocksLong CpG islandFactor binding sitesRepressive histone modificationsTarget gene promotersResponse of genesTarget gene expressionMouse embryonic stem cell linesGene desertChromosomal regionsCpG islandsHistone modificationsExpression dataAcetylation stateEpigenetic featuresTranscriptional activityTranscription factors
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