2019
DOI: 10.3390/cells8101281
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Enhancer Dysfunction in 3D Genome and Disease

Abstract: Spatiotemporal patterns of gene expression depend on enhancer elements and other factors during individual development and disease progression. The rapid progress of high-throughput techniques has led to well-defined enhancer chromatin properties. Various genome-wide methods have revealed a large number of enhancers and the discovery of three-dimensional (3D) genome architecture showing the distant interacting mechanisms of enhancers that loop to target gene promoters. Whole genome sequencing projects directed… Show more

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Cited by 15 publications
(15 citation statements)
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“…Our current understanding of these mechanisms is far from complete [ 194 ]. Further studies are necessary because comprehensive knowledge of the function of these genomic elements is highly important for multiple applications in biotechnological and medical fields [ 272 , 273 ].…”
Section: Discussionmentioning
confidence: 99%
“…Our current understanding of these mechanisms is far from complete [ 194 ]. Further studies are necessary because comprehensive knowledge of the function of these genomic elements is highly important for multiple applications in biotechnological and medical fields [ 272 , 273 ].…”
Section: Discussionmentioning
confidence: 99%
“…The interaction between enhancers and promoters is regulated by transcription factors (TF) and chromatin modifier proteins that act together within protein complexes. 24 A systematic analysis of 542 TF has shown that the effect of DNA methylation on TF specificity is more widespread and complex than previously established: 60% of the classified TF were affected by DNA methylation. 25 Several major classes of TF are inhibited by the presence of methylated CpG dinucleotides in their binding site.…”
Section: Dna Methylation and Phenotypic Variability In Cystic Fibrosismentioning
confidence: 99%
“…Enhancers are long‐distance regulatory sequences that modulate gene transcription by interacting with the promoter region via chromatin loops. The interaction between enhancers and promoters is regulated by transcription factors (TF) and chromatin modifier proteins that act together within protein complexes . A systematic analysis of 542 TF has shown that the effect of DNA methylation on TF specificity is more widespread and complex than previously established: 60% of the classified TF were affected by DNA methylation .…”
Section: Dna Methylation and Phenotypic Variability In Cystic Fibrosismentioning
confidence: 99%
“…63 In parallel, cheaper technologies such synthetic long reads and optical mapping have been developed to efficiently detect SVs. 66,67 Another potential improvement in GS are bioinformatics tools and algorithms to detect triplet expansion, 37 retrotransposition events, 68 mosaic SVs, 69 or regulatory variants within non-coding regions such as promoters and enhancers, [70][71][72] or miRNA binding sites. 73 These improvements could increase the diagnostic yield of about 1% to 10%.…”
Section: Optimization Of Bioinformatics and Sequencing Toolsmentioning
confidence: 99%