본문 바로가기
KERD
논문KCI 등재

DNA regulatory element cooperation and competition in transcription

1

조회

0

다운로드

0

인용

0

참고문헌

키워드

주제분류화학

초록

Regulation of eukaryotic transcription is a complex process thatenables precise temporal and spatial control of gene expression. Promoters, which are cis-regulatory elements (CREs) located proximalto the transcription start site (TSS), selectively integrateregulatory cues from distal CREs, or enhancers, and their associatedtranscriptional machinery. In this review, we discuss currentknowledge regarding CRE cooperation and competitionimpacting gene expression, including features of enhancer-promoter,enhancer-enhancer, and promoter-promoter interplay. We also provide an overview of recent insights into the underlyingmolecular mechanisms that facilitate physical and functionalinteraction of regulatory elements, such as the involvementof enhancer RNAs and biomolecular condensates.

Abstract

Regulation of eukaryotic transcription is a complex process thatenables precise temporal and spatial control of gene expression. Promoters, which are cis-regulatory elements (CREs) located proximalto the transcription start site (TSS), selectively integrateregulatory cues from distal CREs, or enhancers, and their associatedtranscriptional machinery. In this review, we discuss currentknowledge regarding CRE cooperation and competitionimpacting gene expression, including features of enhancer-promoter,enhancer-enhancer, and promoter-promoter interplay. We also provide an overview of recent insights into the underlyingmolecular mechanisms that facilitate physical and functionalinteraction of regulatory elements, such as the involvementof enhancer RNAs and biomolecular condensates.

참고문헌 (110)

  1. Wienert B, "Wake-up sleepy gene : reactivating fetal globin for -hemoglobinopathies", Trends Genet, 34, pp.927~940 (2018)
  2. Bauer DE, "An erythroid enhancer of BCL11A subject to genetic variation determines fetal hemoglobin level", Science, 342, pp.253~257 (2013)
  3. Frangoul H, "CRISPR-Cas9 gene editing for sickle cell disease and -thalassemia", N Engl J Med, 384, pp.252~260 (2021)
  4. Friedman MJ, "Transcriptional and epigenetic regulation of context-dependent plasticity in T-helper lineages", Immune Netw, 23, pp.e5~ (2023)
  5. Schoenfelder S, "Long-range enhancerpromoter contacts in gene expression control", Nat Rev Genet, 20, pp.437~455 (2019)
  6. Zhang D, "Engineering threedimensional genome folding", Nat Genet, 53, pp.602~611 (2021)
  7. Friedman MJ, "Dynamics of viral and host 3D genome structure upon infection", J Microbiol Biotechnol, 32, pp.1515~1526 (2022)
  8. Benabdallah NS, "Decreased enhancer-promoter proximity accompanying enhancer activation", Mol Cell, 76, pp.473~484 (2019)
  9. Alexander JM, "Live-cell imaging reveals enhancer-dependent Sox2 transcription in the absence of enhancer proximity", Elife, 8, pp.41769~ (2019)
  10. Wang H, "Engineering 3D genome organization", Nat Rev Genet, 22, pp.343~360 (2021)
  11. Deng W, "Controlling longrange genomic interactions at a native locus by targeted tethering of a looping factor", Cell, 149, pp.1233~1244 (2012)
  12. Deng W, "Reactivation of developmentally silenced globin genes by forced chromatin looping", Cell, 158, pp.849~860 (2014)
  13. Breda L, "Forced chromatin looping raises fetal hemoglobin in adult sickle cells to higher levels than pharmacologic inducers", Blood, 128, pp.1139~1143 (2016)
  14. Hao N, "Programmable DNA looping using engineered bivalent dCas9 complexes", Nat Commun, 8, pp.1628~ (2017)
  15. Morgan SL, "Manipulation of nuclear architecture through CRISPR-mediated chromosomal looping", Nat Commun, 8, pp.15993~ (2017)
  16. Kim JH, "LADL : light-activated dynamic looping for endogenous gene expression control", Nat Methods, 16, pp.633~639 (2019)
  17. Qin G, "Manipulating complex chromatin folding via CRISPR-guided bioorthogonal chemistry", Proc Natl Acad Sci U S A, 119, pp.e2204725119~ (2022)
  18. Panigrahi AK, "Enhancer-promoter entanglement explains their transcriptional interdependence", Proc Natl Acad Sci U S A, 120, pp.e2216436120~ (2023)
  19. Zhang Y, "Chromatin connectivity maps reveal dynamic promoter-enhancer long-range associations", Nature, 504, pp.306~310 (2013)
  20. Szutorisz H, "The role of enhancers as centres for general transcription factor recruitment", Trends Biochem Sci, 30, pp.593~599 (2005)
  21. Panigrahi A, "Mechanisms of enhancer action : the known and the unknown", Genome Biol, 22, pp.108~ (2021)
  22. Baek I, "Single-molecule studies reveal branched pathways for activator-dependent assembly of RNA polymerase II preinitiation complexes", Mol Cell, 81, pp.3576~3588 (2021)
  23. Gorbea Colón JJ, "Structural basis of a transcription pre-initiation complex on a divergent promoter", Mol Cell, 83, pp.574~588 (2023)
  24. Oh S, "Enhancer release and retargeting activates disease-susceptibility genes", Nature, 595, pp.735~740 (2021)
  25. Chen Q, "Enhancer RNAs in transcriptional regulation : recent insights", Front Cell DevBiol, 11, pp.1205540~ (2023)
  26. Kim TK, "Widespread transcription at neuronal activity-regulated enhancers", Nature, 465, pp.182~187 (2010)
  27. Li W, "Enhancers as non-coding RNA transcription units : recent insights and future perspectives", Nat Rev Genet, 17, pp.207~223 (2016)
  28. Hou TY, "Spirits in the material world : enhancer RNAs in transcriptional regulation", Trends Biochem Sci, 46, pp.138~153 (2021)
  29. Li W, "Functional roles of enhancer RNAs for oestrogen-dependent transcriptional activation", Nature, 498, pp.516~520 (2013)
  30. Park A, "Global epigenomic analysis of KSHV-infected primary effusion lymphoma identifies functional MYC superenhancers and enhancer RNAs", Proc Natl Acad Sci U S A, 117, pp.21618~21627 (2020)
  31. Xiang JF, "Human colorectal cancer-specific CCAT1-L lncRNA regulates long-range chromatin interactions at the MYC locus", Cell Res, 24, pp.513~531 (2014)
  32. Hsieh CL, "Enhancer RNAs participate in androgen receptor-driven looping that selectively enhances gene activation", Proc Natl Acad Sci U S A, 111, pp.7319~7324 (2014)
  33. Tan SH, "The enhancer RNA", Blood, 134, pp.239~251 (2019)
  34. Sigova AA, "Transcription factor trapping by RNA in gene regulatory elements", Science, 350, pp.978~981 (2015)
  35. Rahnamoun H, "RNAs interact with BRD4 to promote enhanced chromatin engagement and transcription activation", Nat Struct Mol Biol, 25, pp.687~697 (2018)
  36. Bose DA, "RNA binding to CBP stimulates histone acetylation and transcription", Cell, 168, pp.135~149 (2017)
  37. Hou TY, "Analysis of estrogen-regulated enhancer RNAs identifies a functional motif required for enhancer assembly and gene expression", Cell Rep, 39, pp.110944~ (2022)
  38. Schaukowitch K, "Enhancer RNA facilitates NELF release from immediate early genes", Mol Cell, 56, pp.29~42 (2014)
  39. Gorbovytska V, "Enhancer RNAs stimulate Pol II pause release by harnessing multivalent interactions to NELF", Nat Commun, 13, pp.2429~ (2022)
  40. Tsai PF, "A muscle-specific enhancer RNA mediates cohesin recruitment and regulates transcription in trans", Mol Cell, 71, pp.129~141 (2018)
  41. Alvarez-Dominguez JR, "Emerging mechanisms of long noncoding RNA function during normal and malignant hematopoiesis", Blood, 130, pp.1965~1975 (2017)
  42. Nair SJ, "Phase separation of ligand-activated enhancers licenses cooperative chromosomal enhancer assembly", Nat Struct Mol Biol, 26, pp.193~203 (2019)
  43. Lee JH, "Enhancer RNA m6A methylation facilitates transcriptional condensate formation and gene activation", Mol Cell, 81, pp.3368~3385 (2021)
  44. Li Y, "N(6)-methyladenosine cotranscriptionally directs the demethylation of histone H3K9me2", Nat Genet, 52, pp.870~877 (2020)
  45. Liu J, "N(6)-methyladenosine of chromosome-associated regulatory RNA regulates chromatin state and transcription", Science, 367, pp.580~586 (2020)
  46. Deng S, "RNA m(6)A regulates transcription via DNA demethylation and chromatin accessibility", Nat Genet, 54, pp.1427~1437 (2022)
  47. Lin Y, "Toxic PR polydipeptides encoded by the C9orf72 repeat expansion target LC domain polymers", Cell, 167, pp.789~802 (2016)
  48. Gamliel A, "Long-distance association of topological boundaries through nuclear condensates", Proc Natl Acad Sci U S A, 119, pp.e2206216119~ (2022)
  49. Wang B, "Liquid-liquid phase separation in human health and diseases", Signal Transduct Target Ther, 6, pp.290~ (2021)
  50. Dignon GL, "Temperature-controlled liquid-liquid phase separation of disordered proteins", ACS Cent Sci, 5, pp.821~830 (2019)
  51. Harami GM, "Phase separation by ssDNA binding protein controlled via protein-protein and protein-DNA interactions", Proc Natl Acad Sci U S A, 117, pp.26206~26217 (2020)
  52. Last MGF, "pH-controlled coacervate-membrane interactions within liposomes", ACS Nano, 14, pp.4487~4498 (2020)
  53. Shakya A, "DNA local-flexibilitydependent assembly of phase-separated liquid droplets", Biophys J, 115, pp.1840~1847 (2018)
  54. Boija A, "Transcription factors activate genes through the phase-separation capacity of their activation domains", Cell, 175, pp.1842~1855 (2018)
  55. Khong A, "The stress granule transcriptome reveals principles of mRNA accumulation in stress granules", Mol Cell, 68, pp.808~820 (2017)
  56. Somasundaram K, "LncRNAs divide and rule : the master regulators of phase separation", Front Genet, 13, pp.930792~ (2022)
  57. Sartorelli V, "Enhancer RNAs are an important regulatory layer of the epigenome", Nat Struct Mol Biol, 27, pp.521~528 (2020)
  58. Deng S, "RNA m(6)A regulates transcription via DNA demethylation and chromatin accessibility", Nat Genet, 54, pp.1427~1437 (2022)
  59. Henninger JE, "RNAmediated feedback control of transcriptional condensates", Cell, 184, pp.207~225 (2021)
  60. Blobel GA, "Testing the super-enhancer concept", Nat Rev Genet, 22, pp.749~755 (2021)
  61. Xu J, "Transcriptional silencing of {gamma}-globin by BCL11A involves longrange interactions and cooperation with SOX6", GenesDev, 24, pp.783~798 (2010)
  62. Stamatoyannopoulos G, "Control of globin gene expression during development and erythroid differentiation", Exp Hematol, 33, pp.259~271 (2005)
  63. Kim Y, "The distinctive roles of erythroid specific activator GATA-1 and NF-E2in transcription of the human fetal gamma-globin genes", Nucleic Acids Res, 39, pp.6944~6955 (2011)
  64. Fraser P, "Each hypersensitive site of the human beta-globin locus control region confers a different developmental pattern of expression on the globin genes", Genes Dev, 7, pp.106~113 (1993)
  65. Kim J, "The human -globin enhancer LCR HS2 plays a role in forming a TAD by activating chromatin structure at neighboring CTCF sites", FASEB J, 35, pp.e21669~ (2021)
  66. Nieto JM, "Heterozygosity for deletion of hypersensitive site 3 in the human locus control region has an unexpected minor effect on red cell phenotype", J Hum Genet, 59, pp.585~587 (2014)
  67. Navas PA, "The 5’HS4 core element of the human beta-globin locus control region is required for high-level globin gene expression in definitive but not in primitive erythropoiesis", J Mol Biol, 312, pp.17~26 (2001)
  68. Bender MA, "Beta-globin gene switching and DNase I sensitivity of the endogenous beta-globin locus in mice do not require the locus control region", Mol Cell, 5, pp.387~393 (2000)
  69. Grosveld F, "Transcriptional regulation by(super)enhancers : from discovery to mechanisms", Annu Rev Genomics Hum Genet, 22, pp.127~146 (2021)
  70. Whyte WA, "Master transcription factors and mediator establish super-enhancers at key cell identity genes", Cell, 153, pp.307~319 (2013)
  71. Parker SC, "Chromatin stretch enhancer states drive cell-specific gene regulation and harbor human disease risk variants", Proc Natl Acad Sci U S A, 110, pp.17921~17926 (2013)
  72. Zhou RW, "Etiology of super-enhancer reprogramming and activation in cancer", Epigenetics Chromatin, 16, pp.29~ (2023)
  73. Pott S, "What are super-enhancers?", Nat Genet, 47, pp.8~12 (2015)
  74. Tu YH, "Identification of cell states using super-enhancer RNA", BMC Genomics, 22, pp.787~ (2021)
  75. Sabari BR, "Coactivator condensation at super-enhancers links phase separation and gene control", Science, 361, pp.3958~ (2018)
  76. Hnisz D, "Super-enhancers in the control of cell identity and disease", Cell, 155, pp.934~947 (2013)
  77. Shin HY, "Targeting Super-enhancers for disease treatment and diagnosis", Mol Cells, 41, pp.506~514 (2018)
  78. Tang F, "Super-enhancer function and its application in cancer targeted therapy", NPJ Precis Oncol, 4, pp.2~ (2020)
  79. Blayney JW, "Super-enhancers include classical enhancers and facilitators to fully activate gene expression", Cell, 186, pp.5826~5839 (2023)
  80. Hsieh TS, "Enhancer-promoter interactions and transcription are largely maintained upon acute loss of CTCF, cohesin, WAPL or YY1", Nat Genet, 54, pp.1919~1932 (2022)
  81. Conte C, "Promoter competition as a mechanism of transcriptional interference mediated by retrotransposons", EMBO J, 21, pp.3908~3916 (2002)
  82. Dixon JR, "Topological domains in mammalian genomes identified by analysis of chromatin interactions", Nature, 485, pp.376~380 (2012)
  83. Choi OR, "Developmental regulation of beta-globin gene switching", Cell, 55, pp.17~26 (1988)
  84. Ohtsuki S, "Different core promoters possess distinct regulatory activities in the Drosophila embryo", Genes Dev, 12, pp.547~556 (1998)
  85. Sharpe J, "Selectivity, sharing and competitive interactions in the regulation of Hoxb genes", EMBO J, 17, pp.1788~1798 (1998)
  86. Cho SW, "Promoter of lncRNA gene PVT1 is a tumor-suppressor DNA boundary element", Cell, 173, pp.1398~1412 (2018)
  87. Fu B, "CRISPR-Cas9-mediated gene editing of the BCL11A enhancer for pediatric ", Nat Med, 28, pp.1573~1580 (2022)
  88. Topfer SK, "Disrupting the adult globin promoter alleviates promoter competition and reactivates fetal globin gene expression", Blood, 139, pp.2107~2118 (2022)
  89. Voon HP, "Controlling alpha-globin : a review of alpha-globin expression and its impact on beta-thalassemia", Haematologica, 93, pp.1868~1876 (2008)
  90. De Gobbi M, "A regulatory SNP causes a human genetic disease by creating a new transcriptional promoter", Science, 312, pp.1215~1217 (2006)
  91. Lower KM, "Adventitious changes in long-range gene expression caused by polymorphic structural variation and promoter competition", Proc Natl Acad Sci U S A, 106, pp.21771~21776 (2009)
  92. Jin EH, "Association between promoter polymorphisms of TFF1, TFF2, and TFF3 and the risk of gastric and diffuse gastric cancers in a Korean population", J Korean Med Sci, 30, pp.1035~1041 (2015)
  93. Leeman-Neill RJ, "Noncoding mutations cause super-enhancer retargeting resulting in protein synthesis dysregulation during B cell lymphoma progression", Nat Genet, 55, pp.2160~2174 (2023)
  94. Kimura S, "Enhancer retargeting of CDX2 and UBTF : : ATXN7L3 define a subtype of high-risk B-progenitor acute lymphoblastic leukemia", Blood, 139, pp.3519~3531 (2022)
  95. Yang M, "13q12. 2deletions in acute lymphoblastic leukemia lead to upregulation of FLT3 through enhancer hijacking", Blood, 136, pp.946~956 (2020)
  96. Shu C, "ERR-activated GPR35 promotes immune infiltration level of macrophages in gastric cancer tissues", Cell Death Discov, 8, pp.444~ (2022)
  97. Ajima R, "Formal proof of the requirement of MESP1 and MESP2 in mesoderm specification and their transcriptional control via specific enhancers in mice", Development, 148, pp.194613~ (2021)
  98. Nakamura T, "Topologically associating domains define the impact of de novo promoter variants on autism spectrum disorder risk", Cell Genom, 4, pp.100488~ (2024)
  99. Bai F, "A distal enhancer guides the negative selection of toxic glycoalkaloids during tomato domestication", Nat Commun, 15, pp.2894~ (2024)
  100. Bateman JR, "Altering enhancerpromoter linear distance impacts promoter competition in cis and in trans", Genetics, 222, pp.98~ (2022)
  101. Carleton JB, "Multiplex enhancer interference reveals collaborative control of gene regulation by estrogen receptor -bound enhancers", Cell Syst, 5, pp.333~344 (2017)
  102. Xie S, "Multiplexed engineering and analysis of combinatorial enhancer activity in single cells", Mol Cell, 66, pp.285~299 (2017)
  103. Morris JA, "Discovery of target genes and pathways at GWAS loci by pooled single-cell CRISPR screens", Science, 380, pp.7699~ (2023)
  104. Friedman MJ, "Enhancer-promoter specificity in gene transcription : molecular mechanisms and disease associations", Exp Mol Med, 56, pp.772~787 (2024)
  105. Feehley T, "Drugging the epigenome in the age of precision medicine", Clin Epigenetics, 15, pp.6~ (2023)
  106. Cappelluti MA, "Durable and efficient gene silencing in vivo by hit-andrun epigenome editing", Nature, 627, pp.416~423 (2024)
  107. Pachano T, "Orphan CpG islands amplify poised enhancer regulatory activity and determine target gene responsiveness", Nat Genet, 53, pp.1036~1049 (2021)
  108. Amabile A, "Inheritable silencing of endogenous genes by hit-and-run targeted epigenetic editing", Cell, 167, pp.219~232 (2016)
  109. Gourisankar S, "Rewiring cancer drivers to activate apoptosis", Nature, 620, pp.417~425 (2023)
  110. Wan L, "Inflammatory immune-associated eRNA : mechanisms, functions and therapeutic prospects", Front Immunol, 13, pp.849451~ (2022)

관련 논문AI추천

이 간행물의 다른 논문 (6건)