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
This site is protected by hCaptcha and its Privacy Policy and Terms of Service apply