메뉴 건너뛰기




Volumn 57, Issue , 2016, Pages 57-67

Gene regulation at a distance: From remote enhancers to 3D regulatory ensembles

Author keywords

3D chromatin organization; Distant enhancers; Enhancer promoter specificity

Indexed keywords

CIS ACTING ELEMENT; COHESIN; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR CTCF;

EID: 84981331875     PISSN: 10849521     EISSN: 10963634     Source Type: Journal    
DOI: 10.1016/j.semcdb.2016.06.017     Document Type: Review
Times cited : (71)

References (158)
  • 1
    • 77958107370 scopus 로고    scopus 로고
    • Insulators as mediators of intra- and inter-chromosomal interactions: a common evolutionary theme
    • [1] Ong, C.-T., Corces, V.G., Insulators as mediators of intra- and inter-chromosomal interactions: a common evolutionary theme. J. Biol., 8, 2009, 73.
    • (2009) J. Biol. , vol.8 , pp. 73
    • Ong, C.-T.1    Corces, V.G.2
  • 2
    • 79551655285 scopus 로고    scopus 로고
    • Functional and mechanistic diversity of distal transcription enhancers
    • [2] Bulger, M., Groudine, M., Functional and mechanistic diversity of distal transcription enhancers. Cell 144 (2011), 327–339.
    • (2011) Cell , vol.144 , pp. 327-339
    • Bulger, M.1    Groudine, M.2
  • 3
    • 84872540994 scopus 로고    scopus 로고
    • DNA-binding specificities of human transcription factors
    • [3] Jolma, A., Yan, J., Whitington, T., Toivonen, J., Nitta, K.R., Rastas, P., et al. DNA-binding specificities of human transcription factors. Cell 152 (2013), 327–339.
    • (2013) Cell , vol.152 , pp. 327-339
    • Jolma, A.1    Yan, J.2    Whitington, T.3    Toivonen, J.4    Nitta, K.R.5    Rastas, P.6
  • 4
    • 84907413210 scopus 로고    scopus 로고
    • Determination and inference of eukaryotic transcription factor sequence specificity
    • [4] Weirauch, M.T., Yang, A., Albu, M., Cote, A.G., Montenegro-Montero, A., Drewe, P., et al. Determination and inference of eukaryotic transcription factor sequence specificity. Cell 158 (2014), 1431–1443.
    • (2014) Cell , vol.158 , pp. 1431-1443
    • Weirauch, M.T.1    Yang, A.2    Albu, M.3    Cote, A.G.4    Montenegro-Montero, A.5    Drewe, P.6
  • 5
    • 84947717868 scopus 로고    scopus 로고
    • DNA-dependent formation of transcription factor pairs alters their binding specificity
    • [5] Jolma, A., Yin, Y., Nitta, K.R., Dave, K., Popov, A., Taipale, M., et al. DNA-dependent formation of transcription factor pairs alters their binding specificity. Nature 527 (2015), 384–388.
    • (2015) Nature , vol.527 , pp. 384-388
    • Jolma, A.1    Yin, Y.2    Nitta, K.R.3    Dave, K.4    Popov, A.5    Taipale, M.6
  • 6
    • 84899450857 scopus 로고    scopus 로고
    • Transcriptional enhancers: from properties to genome-wide predictions
    • [6] Shlyueva, D., Stampfel, G., Stark, A., Transcriptional enhancers: from properties to genome-wide predictions. Nat. Rev. Genet. 15 (2014), 272–286.
    • (2014) Nat. Rev. Genet. , vol.15 , pp. 272-286
    • Shlyueva, D.1    Stampfel, G.2    Stark, A.3
  • 7
    • 84863890567 scopus 로고    scopus 로고
    • Genomic approaches towards finding cis-regulatory modules in animals
    • [7] Hardison, R.C., Taylor, J., Genomic approaches towards finding cis-regulatory modules in animals. Nat. Rev. Genet. 13 (2012), 469–483.
    • (2012) Nat. Rev. Genet. , vol.13 , pp. 469-483
    • Hardison, R.C.1    Taylor, J.2
  • 8
    • 84920972445 scopus 로고    scopus 로고
    • Low affinity binding site clusters confer hox specificity and regulatory robustness
    • [8] Crocker, J., Abe, N., Rinaldi, L., McGregor, A.P., Frankel, N., Wang, S., et al. Low affinity binding site clusters confer hox specificity and regulatory robustness. Cell 160 (2015), 191–203.
    • (2015) Cell , vol.160 , pp. 191-203
    • Crocker, J.1    Abe, N.2    Rinaldi, L.3    McGregor, A.P.4    Frankel, N.5    Wang, S.6
  • 10
    • 40149095913 scopus 로고    scopus 로고
    • Transcription factors bind thousands of active and inactive regions in the Drosophila blastoderm
    • [10] Li, X.-Y., MacArthur, S., Bourgon, R., Nix, D., Pollard, D.A., Iyer, V.N., et al. Transcription factors bind thousands of active and inactive regions in the Drosophila blastoderm. PLoS Biol., 6, 2008, e27.
    • (2008) PLoS Biol. , vol.6 , pp. e27
    • Li, X.-Y.1    MacArthur, S.2    Bourgon, R.3    Nix, D.4    Pollard, D.A.5    Iyer, V.N.6
  • 11
    • 77951935861 scopus 로고    scopus 로고
    • Genome-wide MyoD binding in skeletal muscle cells: a potential for broad cellular reprogramming
    • [11] Cao, Y., Yao, Z., Sarkar, D., Lawrence, M., Sanchez, G.J., Parker, M.H., et al. Genome-wide MyoD binding in skeletal muscle cells: a potential for broad cellular reprogramming. Dev. Cell 18 (2010), 662–674.
    • (2010) Dev. Cell , vol.18 , pp. 662-674
    • Cao, Y.1    Yao, Z.2    Sarkar, D.3    Lawrence, M.4    Sanchez, G.J.5    Parker, M.H.6
  • 12
    • 53549125545 scopus 로고    scopus 로고
    • A genome-scale analysis of the cis-regulatory circuitry underlying sonic hedgehog-mediated patterning of the mammalian limb
    • [12] Vokes, S.A., Ji, H., Wong, W.H., McMahon, A.P., A genome-scale analysis of the cis-regulatory circuitry underlying sonic hedgehog-mediated patterning of the mammalian limb. Genes Dev. 22 (2008), 2651–2663.
    • (2008) Genes Dev. , vol.22 , pp. 2651-2663
    • Vokes, S.A.1    Ji, H.2    Wong, W.H.3    McMahon, A.P.4
  • 13
    • 70449132583 scopus 로고    scopus 로고
    • Combinatorial binding predicts spatio-temporal cis-regulatory activity
    • [13] Zinzen, R.P., Girardot, C., Gagneur, J., Braun, M., Furlong, E.E.M., Combinatorial binding predicts spatio-temporal cis-regulatory activity. Nature 462 (2009), 65–70.
    • (2009) Nature , vol.462 , pp. 65-70
    • Zinzen, R.P.1    Girardot, C.2    Gagneur, J.3    Braun, M.4    Furlong, E.E.M.5
  • 14
    • 84866303839 scopus 로고    scopus 로고
    • A high-throughput chromatin immunoprecipitation approach reveals principles of dynamic gene regulation in mammals
    • [14] Garber, M., Yosef, N., Goren, A., Raychowdhury, R., Thielke, A., Guttman, M., et al. A high-throughput chromatin immunoprecipitation approach reveals principles of dynamic gene regulation in mammals. Mol. Cell 47 (2012), 810–822.
    • (2012) Mol. Cell , vol.47 , pp. 810-822
    • Garber, M.1    Yosef, N.2    Goren, A.3    Raychowdhury, R.4    Thielke, A.5    Guttman, M.6
  • 15
    • 60149091656 scopus 로고    scopus 로고
    • ChIP-seq accurately predicts tissue-specific activity of enhancers
    • [15] Visel, A., Blow, M.J., Li, Z., Zhang, T., Akiyama, J.A., Holt, A., et al. ChIP-seq accurately predicts tissue-specific activity of enhancers. Nature 457 (2009), 854–858.
    • (2009) Nature , vol.457 , pp. 854-858
    • Visel, A.1    Blow, M.J.2    Li, Z.3    Zhang, T.4    Akiyama, J.A.5    Holt, A.6
  • 16
    • 38649099445 scopus 로고    scopus 로고
    • High-resolution mapping and characterization of open chromatin across the genome
    • [16] Boyle, A.P., Davis, S., Shulha, H.P., Meltzer, P., Margulies, E.H., Weng, Z., et al. High-resolution mapping and characterization of open chromatin across the genome. Cell 132 (2008), 311–322.
    • (2008) Cell , vol.132 , pp. 311-322
    • Boyle, A.P.1    Davis, S.2    Shulha, H.P.3    Meltzer, P.4    Margulies, E.H.5    Weng, Z.6
  • 17
    • 34250369627 scopus 로고    scopus 로고
    • FAIRE (Formaldehyde-Assisted Isolation of Regulatory Elements) isolates active regulatory elements from human chromatin
    • [17] Giresi, P.G., Kim, J., McDaniell, R.M., Iyer, V.R., Lieb, J.D., FAIRE (Formaldehyde-Assisted Isolation of Regulatory Elements) isolates active regulatory elements from human chromatin. Genome Res. 17 (2007), 877–885.
    • (2007) Genome Res. , vol.17 , pp. 877-885
    • Giresi, P.G.1    Kim, J.2    McDaniell, R.M.3    Iyer, V.R.4    Lieb, J.D.5
  • 18
    • 84888877924 scopus 로고    scopus 로고
    • Transposition of native chromatin for fast and sensitive epigenomic profiling of open chromatin, DNA-binding proteins and nucleosome position
    • [18] Buenrostro, J.D., Giresi, P.G., Zaba, L.C., Chang, H.Y., Greenleaf, W.J., Transposition of native chromatin for fast and sensitive epigenomic profiling of open chromatin, DNA-binding proteins and nucleosome position. Nat. Methods 10 (2013), 1213–1218.
    • (2013) Nat. Methods , vol.10 , pp. 1213-1218
    • Buenrostro, J.D.1    Giresi, P.G.2    Zaba, L.C.3    Chang, H.Y.4    Greenleaf, W.J.5
  • 19
    • 84355163093 scopus 로고    scopus 로고
    • DNA-binding factors shape the mouse methylome at distal regulatory regions
    • [19] Stadler, M.B., Murr, R., Burger, L., Ivanek, R., Lienert, F., Schöler, A., et al. DNA-binding factors shape the mouse methylome at distal regulatory regions. Nature 480 (2011), 490–495.
    • (2011) Nature , vol.480 , pp. 490-495
    • Stadler, M.B.1    Murr, R.2    Burger, L.3    Ivanek, R.4    Lienert, F.5    Schöler, A.6
  • 20
    • 68149150830 scopus 로고    scopus 로고
    • H3.3/H2A.Z double variant-containing nucleosomes mark nucleosome-free regions of active promoters and other regulatory regions
    • [20] Jin, C., Zang, C., Wei, G., Cui, K., Peng, W., Zhao, K., et al. H3.3/H2A.Z double variant-containing nucleosomes mark nucleosome-free regions of active promoters and other regulatory regions. Nat. Genet. 41 (2009), 941–945.
    • (2009) Nat. Genet. , vol.41 , pp. 941-945
    • Jin, C.1    Zang, C.2    Wei, G.3    Cui, K.4    Peng, W.5    Zhao, K.6
  • 21
    • 79951516056 scopus 로고    scopus 로고
    • A unique chromatin signature uncovers early developmental enhancers in humans
    • [21] Rada-Iglesias, A., Bajpai, R., Swigut, T., Brugmann, S.A., Flynn, R.A., Wysocka, J., A unique chromatin signature uncovers early developmental enhancers in humans. Nature 470 (2011), 279–283.
    • (2011) Nature , vol.470 , pp. 279-283
    • Rada-Iglesias, A.1    Bajpai, R.2    Swigut, T.3    Brugmann, S.A.4    Flynn, R.A.5    Wysocka, J.6
  • 22
    • 84856239091 scopus 로고    scopus 로고
    • Tissue-specific analysis of chromatin state identifies temporal signatures of enhancer activity during embryonic development
    • [22] Bonn, S., Zinzen, R.P., Girardot, C., Gustafson, E.H., Perez-Gonzalez, A., Delhomme, N., et al. Tissue-specific analysis of chromatin state identifies temporal signatures of enhancer activity during embryonic development. Nat. Genet. 44 (2012), 148–156.
    • (2012) Nat. Genet. , vol.44 , pp. 148-156
    • Bonn, S.1    Zinzen, R.P.2    Girardot, C.3    Gustafson, E.H.4    Perez-Gonzalez, A.5    Delhomme, N.6
  • 23
    • 65549104157 scopus 로고    scopus 로고
    • Histone modifications at human enhancers reflect global cell-type-specific gene expression
    • [23] Heintzman, N.D., Hon, G.C., Hawkins, R.D., Kheradpour, P., Stark, A., Harp, L.F., et al. Histone modifications at human enhancers reflect global cell-type-specific gene expression. Nature 459 (2009), 108–112.
    • (2009) Nature , vol.459 , pp. 108-112
    • Heintzman, N.D.1    Hon, G.C.2    Hawkins, R.D.3    Kheradpour, P.4    Stark, A.5    Harp, L.F.6
  • 25
    • 84864462544 scopus 로고    scopus 로고
    • A map of the cis-regulatory sequences in the mouse genome
    • [25] Shen, Y., Yue, F., McCleary, D.F., Ye, Z., Edsall, L., Kuan, S., et al. A map of the cis-regulatory sequences in the mouse genome. Nature 488 (2012), 116–120.
    • (2012) Nature , vol.488 , pp. 116-120
    • Shen, Y.1    Yue, F.2    McCleary, D.F.3    Ye, Z.4    Edsall, L.5    Kuan, S.6
  • 26
    • 79955583542 scopus 로고    scopus 로고
    • Mapping and analysis of chromatin state dynamics in nine human cell types
    • [26] Ernst, J., Kheradpour, P., Mikkelsen, T.S., Shoresh, N., Ward, L.D., Epstein, C.B., et al. Mapping and analysis of chromatin state dynamics in nine human cell types. Nature 473 (2011), 43–49.
    • (2011) Nature , vol.473 , pp. 43-49
    • Ernst, J.1    Kheradpour, P.2    Mikkelsen, T.S.3    Shoresh, N.4    Ward, L.D.5    Epstein, C.B.6
  • 27
    • 84907420733 scopus 로고    scopus 로고
    • Regulatory analysis of the C: elegans genome with spatiotemporal resolution
    • [27] Araya, C.L., Kawli, T., Kundaje, A., Jiang, L., Wu, B., Vafeados, D., et al. Regulatory analysis of the C: elegans genome with spatiotemporal resolution. Nature 512 (2014), 400–405.
    • (2014) Nature , vol.512 , pp. 400-405
    • Araya, C.L.1    Kawli, T.2    Kundaje, A.3    Jiang, L.4    Wu, B.5    Vafeados, D.6
  • 28
    • 84907263788 scopus 로고    scopus 로고
    • Comparative analysis of regulatory information and circuits across distant species
    • [28] Boyle, A.P., Araya, C.L., Brdlik, C., Cayting, P., Cheng, C., Cheng, Y., et al. Comparative analysis of regulatory information and circuits across distant species. Nature 512 (2014), 453–456.
    • (2014) Nature , vol.512 , pp. 453-456
    • Boyle, A.P.1    Araya, C.L.2    Brdlik, C.3    Cayting, P.4    Cheng, C.5    Cheng, Y.6
  • 29
    • 77952367798 scopus 로고    scopus 로고
    • Widespread transcription at neuronal activity-regulated enhancers
    • [29] Kim, T.-K., Hemberg, M., Gray, J.M., Costa, A.M., Bear, D.M., Wu, J., et al. Widespread transcription at neuronal activity-regulated enhancers. Nature 465 (2010), 182–187.
    • (2010) Nature , vol.465 , pp. 182-187
    • Kim, T.-K.1    Hemberg, M.2    Gray, J.M.3    Costa, A.M.4    Bear, D.M.5    Wu, J.6
  • 30
    • 84923796255 scopus 로고    scopus 로고
    • Gene regulation: transcribed enhancers lead waves of coordinated transcription in transitioning mammalian cells
    • [30] Arner, E., Daub, C.O., Vitting-Seerup, K., Andersson, R., Lilje, B., Drabløs, F., et al. Gene regulation: transcribed enhancers lead waves of coordinated transcription in transitioning mammalian cells. Science 347 (2015), 1010–1014.
    • (2015) Science , vol.347 , pp. 1010-1014
    • Arner, E.1    Daub, C.O.2    Vitting-Seerup, K.3    Andersson, R.4    Lilje, B.5    Drabløs, F.6
  • 31
    • 84907437678 scopus 로고    scopus 로고
    • Tissue-specific RNA expression marks distant-acting developmental enhancers
    • [31] Wu, H., Nord, A.S., Akiyama, J.A., Shoukry, M., Afzal, V., Rubin, E.M., et al. Tissue-specific RNA expression marks distant-acting developmental enhancers. PLoS Genet., 10, 2014, e1004610.
    • (2014) PLoS Genet. , vol.10 , pp. e1004610
    • Wu, H.1    Nord, A.S.2    Akiyama, J.A.3    Shoukry, M.4    Afzal, V.5    Rubin, E.M.6
  • 32
    • 84876836223 scopus 로고    scopus 로고
    • Modification of enhancer chromatin: what, how, and why?
    • [32] Calo, E., Wysocka, J., Modification of enhancer chromatin: what, how, and why?. Mol. Cell 49 (2013), 825–837.
    • (2013) Mol. Cell , vol.49 , pp. 825-837
    • Calo, E.1    Wysocka, J.2
  • 33
    • 0019811465 scopus 로고
    • Expression of a beta-globin gene is enhanced by remote SV40 DNA sequences
    • [33] Banerji, J., Rusconi, S., Schaffner, W., Expression of a beta-globin gene is enhanced by remote SV40 DNA sequences. Cell 27 (1981), 299–308.
    • (1981) Cell , vol.27 , pp. 299-308
    • Banerji, J.1    Rusconi, S.2    Schaffner, W.3
  • 34
    • 33846112470 scopus 로고    scopus 로고
    • VISTA Enhancer Browser–a database of tissue-specific human enhancers
    • [34] Visel, A., Minovitsky, S., Dubchak, I., Pennacchio, L.A., VISTA Enhancer Browser–a database of tissue-specific human enhancers. Nucleic Acids Res. 35 (2007), D88–D92.
    • (2007) Nucleic Acids Res. , vol.35 , pp. D88-D92
    • Visel, A.1    Minovitsky, S.2    Dubchak, I.3    Pennacchio, L.A.4
  • 35
    • 84905642951 scopus 로고    scopus 로고
    • Genome-scale functional characterization of Drosophila developmental enhancers in vivo
    • [35] Kvon, E.Z., Kazmar, T., Stampfel, G., Yáñez-Cuna, J.O., Pagani, M., Schernhuber, K., et al. Genome-scale functional characterization of Drosophila developmental enhancers in vivo. Nature 512 (2014), 91–95.
    • (2014) Nature , vol.512 , pp. 91-95
    • Kvon, E.Z.1    Kazmar, T.2    Stampfel, G.3    Yáñez-Cuna, J.O.4    Pagani, M.5    Schernhuber, K.6
  • 36
    • 84939255435 scopus 로고    scopus 로고
    • Decoding enhancers using massively parallel reporter assays
    • [36] Inoue, F., Ahituv, N., Decoding enhancers using massively parallel reporter assays. Genomics 106 (2015), 159–164.
    • (2015) Genomics , vol.106 , pp. 159-164
    • Inoue, F.1    Ahituv, N.2
  • 37
    • 84903640603 scopus 로고    scopus 로고
    • Quantitative genome-wide enhancer activity maps for five Drosophila species show functional enhancer conservation and turnover during cis-regulatory evolution
    • [37] Arnold, C.D., Gerlach, D., Spies, D., Matts, J.A., Sytnikova, Y.A., Pagani, M., et al. Quantitative genome-wide enhancer activity maps for five Drosophila species show functional enhancer conservation and turnover during cis-regulatory evolution. Nat. Genet. 46 (2014), 685–692.
    • (2014) Nat. Genet. , vol.46 , pp. 685-692
    • Arnold, C.D.1    Gerlach, D.2    Spies, D.3    Matts, J.A.4    Sytnikova, Y.A.5    Pagani, M.6
  • 38
    • 84894598129 scopus 로고    scopus 로고
    • Rapid and pervasive changes in genome-wide enhancer usage during mammalian development
    • [38] Nord, A.S., Blow, M.J., Attanasio, C., Akiyama, J.A., Holt, A., Hosseini, R., et al. Rapid and pervasive changes in genome-wide enhancer usage during mammalian development. Cell 155 (2013), 1521–1531.
    • (2013) Cell , vol.155 , pp. 1521-1531
    • Nord, A.S.1    Blow, M.J.2    Attanasio, C.3    Akiyama, J.A.4    Holt, A.5    Hosseini, R.6
  • 39
    • 84905593782 scopus 로고    scopus 로고
    • Enhancer loops appear stable during development and are associated with paused polymerase
    • [39] Ghavi-Helm, Y., Klein, F.A., Pakozdi, T., Ciglar, L., Noordermeer, D., Huber, W., et al. Enhancer loops appear stable during development and are associated with paused polymerase. Nature 512 (2014), 96–100.
    • (2014) Nature , vol.512 , pp. 96-100
    • Ghavi-Helm, Y.1    Klein, F.A.2    Pakozdi, T.3    Ciglar, L.4    Noordermeer, D.5    Huber, W.6
  • 40
    • 0034986652 scopus 로고    scopus 로고
    • A BAC transgenic analysis of the Mrf4/Myf5 locus reveals interdigitated elements that control activation and maintenance of gene expression during muscle development
    • [40] Carvajal, J.J., Cox, D., Summerbell, D., Rigby, P.W., A BAC transgenic analysis of the Mrf4/Myf5 locus reveals interdigitated elements that control activation and maintenance of gene expression during muscle development. Development 128 (2001), 1857–1868.
    • (2001) Development , vol.128 , pp. 1857-1868
    • Carvajal, J.J.1    Cox, D.2    Summerbell, D.3    Rigby, P.W.4
  • 41
    • 84875249885 scopus 로고    scopus 로고
    • An integrated holo-Enhancer unit defines tissue and gene specificity of the fgf8 regulatory landscape
    • [41] Marinić, M., Aktas, T., Ruf, S., Spitz, F., An integrated holo-Enhancer unit defines tissue and gene specificity of the fgf8 regulatory landscape. Dev. Cell 24 (2013), 530–542.
    • (2013) Dev. Cell , vol.24 , pp. 530-542
    • Marinić, M.1    Aktas, T.2    Ruf, S.3    Spitz, F.4
  • 42
    • 3042696502 scopus 로고    scopus 로고
    • Mouse limb deformity mutations disrupt a global control region within the large regulatory landscape required for Gremlin expression
    • [42] Zuniga, A., Michos, O., Spitz, F., Haramis, A.-P.G., Panman, L., Galli, A., et al. Mouse limb deformity mutations disrupt a global control region within the large regulatory landscape required for Gremlin expression. Genes Dev. 18 (2004), 1553–1564.
    • (2004) Genes Dev. , vol.18 , pp. 1553-1564
    • Zuniga, A.1    Michos, O.2    Spitz, F.3    Haramis, A.-P.G.4    Panman, L.5    Galli, A.6
  • 43
    • 0042810698 scopus 로고    scopus 로고
    • A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly
    • [43] Lettice, L.A., Heaney, S.J.H., Purdie, L.A., Li, L., de Beer, P., Oostra, B.A., et al. A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly. Hum. Mol. Genet. 12 (2003), 1725–1735.
    • (2003) Hum. Mol. Genet. , vol.12 , pp. 1725-1735
    • Lettice, L.A.1    Heaney, S.J.H.2    Purdie, L.A.3    Li, L.4    de Beer, P.5    Oostra, B.A.6
  • 44
    • 84861456609 scopus 로고    scopus 로고
    • Coding exons function as tissue-specific enhancers of nearby genes
    • [44] Birnbaum, R.Y., Clowney, E.J., Agamy, O., Kim, M.J., Zhao, J., Yamanaka, T., et al. Coding exons function as tissue-specific enhancers of nearby genes. Genome Res. 22 (2012), 1059–1068.
    • (2012) Genome Res. , vol.22 , pp. 1059-1068
    • Birnbaum, R.Y.1    Clowney, E.J.2    Agamy, O.3    Kim, M.J.4    Zhao, J.5    Yamanaka, T.6
  • 45
    • 81855227640 scopus 로고    scopus 로고
    • A regulatory archipelago controls hox genes transcription in digits
    • [45] Montavon, T., Soshnikova, N., Mascrez, B., Joye, E., Thevenet, L., Splinter, E., et al. A regulatory archipelago controls hox genes transcription in digits. Cell 147 (2011), 1132–1145.
    • (2011) Cell , vol.147 , pp. 1132-1145
    • Montavon, T.1    Soshnikova, N.2    Mascrez, B.3    Joye, E.4    Thevenet, L.5    Splinter, E.6
  • 46
    • 84903607220 scopus 로고    scopus 로고
    • Long-range enhancers regulating Myc expression are required for normal facial morphogenesis
    • [46] Uslu, V.V., Petretich, M., Ruf, S., Langenfeld, K., Fonseca, N.A., Marioni, J.C., et al. Long-range enhancers regulating Myc expression are required for normal facial morphogenesis. Nat. Genet. 46 (2014), 753–758.
    • (2014) Nat. Genet. , vol.46 , pp. 753-758
    • Uslu, V.V.1    Petretich, M.2    Ruf, S.3    Langenfeld, K.4    Fonseca, N.A.5    Marioni, J.C.6
  • 47
    • 0038613098 scopus 로고    scopus 로고
    • A global control region defines a chromosomal regulatory landscape containing the HoxD cluster
    • [47] Spitz, F., Gonzalez, F., Duboule, D., A global control region defines a chromosomal regulatory landscape containing the HoxD cluster. Cell 113 (2003), 405–417.
    • (2003) Cell , vol.113 , pp. 405-417
    • Spitz, F.1    Gonzalez, F.2    Duboule, D.3
  • 48
    • 11144339384 scopus 로고    scopus 로고
    • Long-range control of gene expression: emerging mechanisms and disruption in disease
    • [48] Kleinjan, D.A., van Heyningen, V., Long-range control of gene expression: emerging mechanisms and disruption in disease. Am. J. Hum. Genet. 76 (2005), 8–32.
    • (2005) Am. J. Hum. Genet. , vol.76 , pp. 8-32
    • Kleinjan, D.A.1    van Heyningen, V.2
  • 49
    • 0021014396 scopus 로고
    • Beta-globin gene inactivation by DNA translocation in gamma beta-thalassaemia
    • [49] Kioussis, D., Vanin, E., deLange, T., Flavell, R.A., Grosveld, F.G., Beta-globin gene inactivation by DNA translocation in gamma beta-thalassaemia. Nature 306 (1983), 662–666.
    • (1983) Nature , vol.306 , pp. 662-666
    • Kioussis, D.1    Vanin, E.2    deLange, T.3    Flavell, R.A.4    Grosveld, F.G.5
  • 50
    • 39049092286 scopus 로고    scopus 로고
    • Beta-globin regulation and long-range interactions
    • [50] Palstra, R.-J., de Laat, W., Grosveld, F., Beta-globin regulation and long-range interactions. Adv. Genet. 61 (2008), 107–142.
    • (2008) Adv. Genet. , vol.61 , pp. 107-142
    • Palstra, R.-J.1    de Laat, W.2    Grosveld, F.3
  • 51
    • 0018240421 scopus 로고
    • A gene complex controlling segmentation in Drosophila
    • [51] Lewis, E.B., A gene complex controlling segmentation in Drosophila. Nature 276 (1978), 565–570.
    • (1978) Nature , vol.276 , pp. 565-570
    • Lewis, E.B.1
  • 52
    • 0025736036 scopus 로고
    • The bx region enhancer, a distant cis-control element of the Drosophila Ubx gene and its regulation by hunchback and other segmentation genes
    • [52] Qian, S., MCVP, The bx region enhancer, a distant cis-control element of the Drosophila Ubx gene and its regulation by hunchback and other segmentation genes. EMBO J., 10, 1991, 1415.
    • (1991) EMBO J. , vol.10 , pp. 1415
    • Qian, S.1    MCVP2
  • 53
    • 84895887720 scopus 로고    scopus 로고
    • Enhancer biology and enhanceropathies
    • [53] Smith, E., Shilatifard, A., Enhancer biology and enhanceropathies. Nat. Struct. Mol. Biol. 21 (2014), 210–219.
    • (2014) Nat. Struct. Mol. Biol. , vol.21 , pp. 210-219
    • Smith, E.1    Shilatifard, A.2
  • 54
    • 77949775636 scopus 로고    scopus 로고
    • Targeted deletion of the 9p21 non-coding coronary artery disease risk interval in mice
    • [54] Visel, A., Zhu, Y., May, D., Afzal, V., Gong, E., Attanasio, C., et al. Targeted deletion of the 9p21 non-coding coronary artery disease risk interval in mice. Nature 464 (2010), 409–412.
    • (2010) Nature , vol.464 , pp. 409-412
    • Visel, A.1    Zhu, Y.2    May, D.3    Afzal, V.4    Gong, E.5    Attanasio, C.6
  • 55
    • 84870674626 scopus 로고    scopus 로고
    • Mice lacking a Myc enhancer that includes human SNP rs6983267 are resistant to intestinal tumors
    • [55] Sur, I.K., Hallikas, O., Vähärautio, A., Yan, J., Turunen, M., Enge, M., et al. Mice lacking a Myc enhancer that includes human SNP rs6983267 are resistant to intestinal tumors. Science 338 (2012), 1360–1363.
    • (2012) Science , vol.338 , pp. 1360-1363
    • Sur, I.K.1    Hallikas, O.2    Vähärautio, A.3    Yan, J.4    Turunen, M.5    Enge, M.6
  • 56
    • 77956295666 scopus 로고    scopus 로고
    • An 8q24 gene desert variant associated with prostate cancer risk confers differential in vivo activity to a MYC enhancer
    • [56] Wasserman, N.F., Aneas, I., Nobrega, M.A., An 8q24 gene desert variant associated with prostate cancer risk confers differential in vivo activity to a MYC enhancer. Genome Res. 20 (2010), 1191–1197.
    • (2010) Genome Res. , vol.20 , pp. 1191-1197
    • Wasserman, N.F.1    Aneas, I.2    Nobrega, M.A.3
  • 57
    • 68149170044 scopus 로고    scopus 로고
    • The common colorectal cancer predisposition SNP rs6983267 at chromosome 8q24 confers potential to enhanced Wnt signaling
    • [57] Tuupanen, S., Turunen, M., Lehtonen, R., Hallikas, O., Vanharanta, S., Kivioja, T., et al. The common colorectal cancer predisposition SNP rs6983267 at chromosome 8q24 confers potential to enhanced Wnt signaling. Nat. Genet. 41 (2009), 885–890.
    • (2009) Nat. Genet. , vol.41 , pp. 885-890
    • Tuupanen, S.1    Turunen, M.2    Lehtonen, R.3    Hallikas, O.4    Vanharanta, S.5    Kivioja, T.6
  • 58
    • 79951473520 scopus 로고    scopus 로고
    • 9p21 DNA variants associated with coronary artery disease impair interferon-γ signalling response
    • [58] Harismendy, O., Notani, D., Song, X., Rahim, N.G., Tanasa, B., Heintzman, N., et al. 9p21 DNA variants associated with coronary artery disease impair interferon-γ signalling response. Nature 470 (2011), 264–268.
    • (2011) Nature , vol.470 , pp. 264-268
    • Harismendy, O.1    Notani, D.2    Song, X.3    Rahim, N.G.4    Tanasa, B.5    Heintzman, N.6
  • 59
    • 84925356022 scopus 로고    scopus 로고
    • A PAX1 enhancer locus is associated with susceptibility to idiopathic scoliosis in females
    • [59] Sharma, S., Londono, D., Eckalbar, W.L., Gao, X., Zhang, D., Mauldin, K., et al. A PAX1 enhancer locus is associated with susceptibility to idiopathic scoliosis in females. Nat. Commun., 6, 2015, 6452.
    • (2015) Nat. Commun. , vol.6 , pp. 6452
    • Sharma, S.1    Londono, D.2    Eckalbar, W.L.3    Gao, X.4    Zhang, D.5    Mauldin, K.6
  • 60
    • 55049105999 scopus 로고    scopus 로고
    • Disruption of an AP-2alpha binding site in an IRF6 enhancer is associated with cleft lip
    • [60] Rahimov, F., Marazita, M.L., Visel, A., Cooper, M.E., Hitchler, M.J., Rubini, M., et al. Disruption of an AP-2alpha binding site in an IRF6 enhancer is associated with cleft lip. Nat. Genet. 40 (2008), 1341–1347.
    • (2008) Nat. Genet. , vol.40 , pp. 1341-1347
    • Rahimov, F.1    Marazita, M.L.2    Visel, A.3    Cooper, M.E.4    Hitchler, M.J.5    Rubini, M.6
  • 61
    • 34547498546 scopus 로고    scopus 로고
    • A genome-wide association scan of tag SNPs identifies a susceptibility variant for colorectal cancer at 8q24.21
    • [61] Tomlinson, I., Webb, E., Carvajal-Carmona, L., Broderick, P., Kemp, Z., Spain, S., et al. A genome-wide association scan of tag SNPs identifies a susceptibility variant for colorectal cancer at 8q24.21. Nat. Genet. 39 (2007), 984–988.
    • (2007) Nat. Genet. , vol.39 , pp. 984-988
    • Tomlinson, I.1    Webb, E.2    Carvajal-Carmona, L.3    Broderick, P.4    Kemp, Z.5    Spain, S.6
  • 62
    • 34247563453 scopus 로고    scopus 로고
    • Genome-wide association study identifies a second prostate cancer susceptibility variant at 8q24
    • [62] Gudmundsson, J., Sulem, P., Manolescu, A., Amundadottir, L.T., Gudbjartsson, D., Helgason, A., et al. Genome-wide association study identifies a second prostate cancer susceptibility variant at 8q24. Nat. Genet. 39 (2007), 631–637.
    • (2007) Nat. Genet. , vol.39 , pp. 631-637
    • Gudmundsson, J.1    Sulem, P.2    Manolescu, A.3    Amundadottir, L.T.4    Gudbjartsson, D.5    Helgason, A.6
  • 63
    • 68149180890 scopus 로고    scopus 로고
    • Genome-wide association study identifies five susceptibility loci for glioma
    • [63] Shete, S., Hosking, F.J., Robertson, L.B., Dobbins, S.E., Sanson, M., Malmer, B., et al. Genome-wide association study identifies five susceptibility loci for glioma. Nat. Genet. 41 (2009), 899–904.
    • (2009) Nat. Genet. , vol.41 , pp. 899-904
    • Shete, S.1    Hosking, F.J.2    Robertson, L.B.3    Dobbins, S.E.4    Sanson, M.5    Malmer, B.6
  • 64
    • 63449105241 scopus 로고    scopus 로고
    • Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24
    • [64] Birnbaum, S., Ludwig, K.U., Reutter, H., Herms, S., Steffens, M., Rubini, M., et al. Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24. Nat. Genet. 41 (2009), 473–477.
    • (2009) Nat. Genet. , vol.41 , pp. 473-477
    • Birnbaum, S.1    Ludwig, K.U.2    Reutter, H.3    Herms, S.4    Steffens, M.5    Rubini, M.6
  • 66
    • 84929206967 scopus 로고    scopus 로고
    • Multiple functional variants in long-range enhancer elements contribute to the risk of SNP rs965513 in thyroid cancer
    • [66] He, H., Li, W., Liyanarachchi, S., Srinivas, M., Wang, Y., Akagi, K., et al. Multiple functional variants in long-range enhancer elements contribute to the risk of SNP rs965513 in thyroid cancer. Proc. Natl. Acad. Sci. U. S. A. 112 (2015), 6128–6133.
    • (2015) Proc. Natl. Acad. Sci. U. S. A. , vol.112 , pp. 6128-6133
    • He, H.1    Li, W.2    Liyanarachchi, S.3    Srinivas, M.4    Wang, Y.5    Akagi, K.6
  • 68
    • 0041508221 scopus 로고    scopus 로고
    • Distinct regulators of Shh transcription in the floor plate and notochord indicate separate origins for these tissues in the mouse node
    • [68] Jeong, Y., Distinct regulators of Shh transcription in the floor plate and notochord indicate separate origins for these tissues in the mouse node. Development 130 (2003), 3891–3902.
    • (2003) Development , vol.130 , pp. 3891-3902
    • Jeong, Y.1
  • 69
    • 0035448880 scopus 로고    scopus 로고
    • Large scale transgenic and cluster deletion analysis of the HoxD complex separate an ancestral regulatory module from evolutionary innovations
    • [69] Spitz, F., Gonzalez, F., Peichel, C., Vogt, T.F., Duboule, D., Zákány, J., Large scale transgenic and cluster deletion analysis of the HoxD complex separate an ancestral regulatory module from evolutionary innovations. Genes Dev. 15 (2001), 2209–2214.
    • (2001) Genes Dev. , vol.15 , pp. 2209-2214
    • Spitz, F.1    Gonzalez, F.2    Peichel, C.3    Vogt, T.F.4    Duboule, D.5    Zákány, J.6
  • 70
    • 0026593562 scopus 로고
    • Regulatory elements that control the lineage-specific expression of myoD
    • [70] Goldhamer, D.J., Faerman, A., Shani, M., Emerson, C.P., Regulatory elements that control the lineage-specific expression of myoD. Science 256 (1992), 538–542.
    • (1992) Science , vol.256 , pp. 538-542
    • Goldhamer, D.J.1    Faerman, A.2    Shani, M.3    Emerson, C.P.4
  • 71
    • 0027227469 scopus 로고
    • The regulation of myogenin gene expression during the embryonic development of the mouse
    • [71] Yee, S.P., Rigby, P.W., The regulation of myogenin gene expression during the embryonic development of the mouse. Genes Dev. 7 (1993), 1277–1289.
    • (1993) Genes Dev. , vol.7 , pp. 1277-1289
    • Yee, S.P.1    Rigby, P.W.2
  • 74
    • 84886257610 scopus 로고    scopus 로고
    • Fine tuning of craniofacial morphology by distant-acting enhancers
    • 1241006–6
    • [74] Attanasio, C., Nord, A.S., Zhu, Y., Blow, M.J., Li, Z., Liberton, D.K., et al. Fine tuning of craniofacial morphology by distant-acting enhancers. Science, 342, 2013 1241006–6.
    • (2013) Science , vol.342
    • Attanasio, C.1    Nord, A.S.2    Zhu, Y.3    Blow, M.J.4    Li, Z.5    Liberton, D.K.6
  • 75
    • 77954960062 scopus 로고    scopus 로고
    • Phenotypic robustness conferred by apparently redundant transcriptional enhancers
    • [75] Frankel, N., Davis, G.K., Vargas, D., Wang, S., Payre, F., Stern, D.L., Phenotypic robustness conferred by apparently redundant transcriptional enhancers. Nature 466 (2010), 490–493.
    • (2010) Nature , vol.466 , pp. 490-493
    • Frankel, N.1    Davis, G.K.2    Vargas, D.3    Wang, S.4    Payre, F.5    Stern, D.L.6
  • 76
    • 80052007879 scopus 로고    scopus 로고
    • Multiple enhancers ensure precision of gap gene-expression patterns in the Drosophila embryo
    • [76] Perry, M.W., Boettiger, A.N., Levine, M., Multiple enhancers ensure precision of gap gene-expression patterns in the Drosophila embryo. Proc. Natl. Acad. Sci. U. S. A. 108 (2011), 13570–13575.
    • (2011) Proc. Natl. Acad. Sci. U. S. A. , vol.108 , pp. 13570-13575
    • Perry, M.W.1    Boettiger, A.N.2    Levine, M.3
  • 77
    • 84877252837 scopus 로고    scopus 로고
    • A far-upstream (−70 kb) enhancer mediates Sox9 auto-regulation in somatic tissues during development and adult regeneration
    • [77] Mead, T.J., Wang, Q., Bhattaram, P., Dy, P., Afelik, S., Jensen, J., et al. A far-upstream (−70 kb) enhancer mediates Sox9 auto-regulation in somatic tissues during development and adult regeneration. Nucleic Acids Res. 41 (2013), 4459–4469.
    • (2013) Nucleic Acids Res. , vol.41 , pp. 4459-4469
    • Mead, T.J.1    Wang, Q.2    Bhattaram, P.3    Dy, P.4    Afelik, S.5    Jensen, J.6
  • 78
    • 25144525014 scopus 로고    scopus 로고
    • Core transcriptional regulatory circuitry in human embryonic stem cells
    • [78] Boyer, L.A., Lee, T.I., Cole, M.F., Johnstone, S.E., Levine, S.S., Zucker, J.P., et al. Core transcriptional regulatory circuitry in human embryonic stem cells. Cell 122 (2005), 947–956.
    • (2005) Cell , vol.122 , pp. 947-956
    • Boyer, L.A.1    Lee, T.I.2    Cole, M.F.3    Johnstone, S.E.4    Levine, S.S.5    Zucker, J.P.6
  • 79
    • 0029055810 scopus 로고
    • Segmental expression of Hoxb-1 is controlled by a highly conserved autoregulatory loop dependent upon exd/pbx
    • [79] Pöpperl, H., Bienz, M., Studer, M., Chan, S.K., Aparicio, S., Brenner, S., et al. Segmental expression of Hoxb-1 is controlled by a highly conserved autoregulatory loop dependent upon exd/pbx. Cell 81 (1995), 1031–1042.
    • (1995) Cell , vol.81 , pp. 1031-1042
    • Pöpperl, H.1    Bienz, M.2    Studer, M.3    Chan, S.K.4    Aparicio, S.5    Brenner, S.6
  • 80
    • 84915816838 scopus 로고    scopus 로고
    • CRISPR reveals a distal super-enhancer required for sox2 expression in mouse embryonic stem cells
    • [80] Li, Y., Rivera, C.M., Ishii, H., Jin, F., Selvaraj, S., Lee, A.Y., et al. CRISPR reveals a distal super-enhancer required for sox2 expression in mouse embryonic stem cells. PLoS One, 9, 2014, e114485.
    • (2014) PLoS One , vol.9 , pp. e114485
    • Li, Y.1    Rivera, C.M.2    Ishii, H.3    Jin, F.4    Selvaraj, S.5    Lee, A.Y.6
  • 81
    • 84928207423 scopus 로고    scopus 로고
    • Convergence of developmental and oncogenic signaling pathways at transcriptional super-enhancers
    • [81] Hnisz, D., Schuijers, J., Lin, C.Y., Weintraub, A.S., Abraham, B.J., Lee, T.I., et al. Convergence of developmental and oncogenic signaling pathways at transcriptional super-enhancers. Mol. Cell 58 (2015), 362–370.
    • (2015) Mol. Cell , vol.58 , pp. 362-370
    • Hnisz, D.1    Schuijers, J.2    Lin, C.Y.3    Weintraub, A.S.4    Abraham, B.J.5    Lee, T.I.6
  • 83
    • 0032479079 scopus 로고    scopus 로고
    • Going the distance: a current view of enhancer action
    • [83] Blackwood, E.M., Kadonaga, J.T., Going the distance: a current view of enhancer action. Science 281 (1998), 60–63.
    • (1998) Science , vol.281 , pp. 60-63
    • Blackwood, E.M.1    Kadonaga, J.T.2
  • 84
    • 0024334963 scopus 로고
    • An enhancer stimulates transcription in trans when attached to the promoter via a protein bridge
    • [84] Müeller-Storm, H.P., Sogo, J.M., Schaffner, W., An enhancer stimulates transcription in trans when attached to the promoter via a protein bridge. Cell 58 (1989), 767–777.
    • (1989) Cell , vol.58 , pp. 767-777
    • Müeller-Storm, H.P.1    Sogo, J.M.2    Schaffner, W.3
  • 85
    • 84865070200 scopus 로고    scopus 로고
    • Comparing enhancer action in cis and in trans
    • [85] Bateman, J.R., Johnson, J.E., Locke, M.N., Comparing enhancer action in cis and in trans. Genetics 191 (2012), 1143–1155.
    • (2012) Genetics , vol.191 , pp. 1143-1155
    • Bateman, J.R.1    Johnson, J.E.2    Locke, M.N.3
  • 86
    • 84865073467 scopus 로고    scopus 로고
    • Transvection is common throughout the Drosophila genome
    • [86] Mellert, D.J., Truman, J.W., Transvection is common throughout the Drosophila genome. Genetics 191 (2012), 1129–1141.
    • (2012) Genetics , vol.191 , pp. 1129-1141
    • Mellert, D.J.1    Truman, J.W.2
  • 88
    • 84861964135 scopus 로고    scopus 로고
    • Controlling long-range genomic interactions at a native locus by targeted tethering of a looping factor
    • [88] Deng, W., Lee, J., Wang, H., Miller, J., Reik, A., Gregory, P.D., et al. Controlling long-range genomic interactions at a native locus by targeted tethering of a looping factor. Cell 149 (2012), 1233–1244.
    • (2012) Cell , vol.149 , pp. 1233-1244
    • Deng, W.1    Lee, J.2    Wang, H.3    Miller, J.4    Reik, A.5    Gregory, P.D.6
  • 89
    • 84875190221 scopus 로고    scopus 로고
    • Genome architecture: domain organization of interphase chromosomes
    • [89] Bickmore, W.A., van Steensel, B., Genome architecture: domain organization of interphase chromosomes. Cell 152 (2013), 1270–1284.
    • (2013) Cell , vol.152 , pp. 1270-1284
    • Bickmore, W.A.1    van Steensel, B.2
  • 90
    • 84870317191 scopus 로고    scopus 로고
    • 3C-based technologies to study the shape of the genome
    • [90] de Laat, W., Dekker, J., 3C-based technologies to study the shape of the genome. Methods 58 (2012), 189–191.
    • (2012) Methods , vol.58 , pp. 189-191
    • de Laat, W.1    Dekker, J.2
  • 91
    • 79952901680 scopus 로고    scopus 로고
    • Enhancer function: new insights into the regulation of tissue-specific gene expression
    • [91] Ong, C.-T., Corces, V.G., Enhancer function: new insights into the regulation of tissue-specific gene expression. Nat. Rev. Genet. 12 (2011), 283–293.
    • (2011) Nat. Rev. Genet. , vol.12 , pp. 283-293
    • Ong, C.-T.1    Corces, V.G.2
  • 92
    • 84865800494 scopus 로고    scopus 로고
    • The long-range interaction landscape of gene promoters
    • [92] Sanyal, A., Lajoie, B.R., Jain, G., Dekker, J., The long-range interaction landscape of gene promoters. Nature 489 (2012), 109–113.
    • (2012) Nature , vol.489 , pp. 109-113
    • Sanyal, A.1    Lajoie, B.R.2    Jain, G.3    Dekker, J.4
  • 93
    • 84887620842 scopus 로고    scopus 로고
    • A high-resolution map of the three-dimensional chromatin interactome in human cells
    • [93] Jin, F., Li, Y., Dixon, J.R., Selvaraj, S., Ye, Z., Lee, A.Y., et al. A high-resolution map of the three-dimensional chromatin interactome in human cells. Nature 503 (2013), 290–294.
    • (2013) Nature , vol.503 , pp. 290-294
    • Jin, F.1    Li, Y.2    Dixon, J.R.3    Selvaraj, S.4    Ye, Z.5    Lee, A.Y.6
  • 94
    • 84862908850 scopus 로고    scopus 로고
    • Extensive promoter-centered chromatin interactions provide a topological basis for transcription regulation
    • [94] Li, G., Ruan, X., Auerbach, R.K., Sandhu, K.S., Zheng, M., Wang, P., et al. Extensive promoter-centered chromatin interactions provide a topological basis for transcription regulation. Cell 148 (2012), 84–98.
    • (2012) Cell , vol.148 , pp. 84-98
    • Li, G.1    Ruan, X.2    Auerbach, R.K.3    Sandhu, K.S.4    Zheng, M.5    Wang, P.6
  • 95
    • 84930092058 scopus 로고    scopus 로고
    • Mapping long-range promoter contacts in human cells with high-resolution capture Hi-C
    • [95] Mifsud, B., Tavares-Cadete, F., Young, A.N., Sugar, R., Schoenfelder, S., Ferreira, L., et al. Mapping long-range promoter contacts in human cells with high-resolution capture Hi-C. Nat. Genet. 47 (2015), 598–606.
    • (2015) Nat. Genet. , vol.47 , pp. 598-606
    • Mifsud, B.1    Tavares-Cadete, F.2    Young, A.N.3    Sugar, R.4    Schoenfelder, S.5    Ferreira, L.6
  • 96
    • 84924366664 scopus 로고    scopus 로고
    • A discrete transition zone organizes the topological and regulatory autonomy of the adjacent tfap2c and bmp7 genes
    • [96] Tsujimura, T., Klein, F.A., Langenfeld, K., Glaser, J., Huber, W., Spitz, F., A discrete transition zone organizes the topological and regulatory autonomy of the adjacent tfap2c and bmp7 genes. PLoS Genet., 11, 2015, e1004897.
    • (2015) PLoS Genet. , vol.11 , pp. e1004897
    • Tsujimura, T.1    Klein, F.A.2    Langenfeld, K.3    Glaser, J.4    Huber, W.5    Spitz, F.6
  • 97
  • 98
    • 84878860751 scopus 로고    scopus 로고
    • Architectural protein subclasses shape 3D organization of genomes during lineage commitment
    • [98] Phillips-Cremins, J.E., Sauria, M.E.G., Sanyal, A., Gerasimova, T.I., Lajoie, B.R., Bell, J.S.K., et al. Architectural protein subclasses shape 3D organization of genomes during lineage commitment. Cell 153 (2013), 1281–1295.
    • (2013) Cell , vol.153 , pp. 1281-1295
    • Phillips-Cremins, J.E.1    Sauria, M.E.G.2    Sanyal, A.3    Gerasimova, T.I.4    Lajoie, B.R.5    Bell, J.S.K.6
  • 99
    • 5444255213 scopus 로고    scopus 로고
    • The active spatial organization of the beta-globin locus requires the transcription factor EKLF
    • [99] Drissen, R., Palstra, R.-J., Gillemans, N., Splinter, E., Grosveld, F., Philipsen, S., et al. The active spatial organization of the beta-globin locus requires the transcription factor EKLF. Genes Dev. 18 (2004), 2485–2490.
    • (2004) Genes Dev. , vol.18 , pp. 2485-2490
    • Drissen, R.1    Palstra, R.-J.2    Gillemans, N.3    Splinter, E.4    Grosveld, F.5    Philipsen, S.6
  • 100
    • 41949142533 scopus 로고    scopus 로고
    • Transcription and chromatin organization of a housekeeping gene cluster containing an integrated beta-globin locus control region
    • [100] Noordermeer, D., Branco, M.R., Splinter, E., Klous, P., van Ijcken, W., Swagemakers, S., et al. Transcription and chromatin organization of a housekeeping gene cluster containing an integrated beta-globin locus control region. PLoS Genet., 4, 2008, e1000016.
    • (2008) PLoS Genet. , vol.4 , pp. e1000016
    • Noordermeer, D.1    Branco, M.R.2    Splinter, E.3    Klous, P.4    van Ijcken, W.5    Swagemakers, S.6
  • 101
    • 84930091577 scopus 로고    scopus 로고
    • Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions
    • [101] Lupiáñez, D.G., Kraft, K., Heinrich, V., Krawitz, P., Brancati, F., Klopocki, E., et al. Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions. Cell 161 (2015), 1012–1025.
    • (2015) Cell , vol.161 , pp. 1012-1025
    • Lupiáñez, D.G.1    Kraft, K.2    Heinrich, V.3    Krawitz, P.4    Brancati, F.5    Klopocki, E.6
  • 103
    • 84856747483 scopus 로고    scopus 로고
    • Three-dimensional folding and functional organization principles of the Drosophila genome
    • [103] Sexton, T., Yaffe, E., Kenigsberg, E., Bantignies, F., Leblanc, B., Hoichman, M., et al. Three-dimensional folding and functional organization principles of the Drosophila genome. Cell 148 (2012), 458–472.
    • (2012) Cell , vol.148 , pp. 458-472
    • Sexton, T.1    Yaffe, E.2    Kenigsberg, E.3    Bantignies, F.4    Leblanc, B.5    Hoichman, M.6
  • 104
    • 84861100147 scopus 로고    scopus 로고
    • Spatial partitioning of the regulatory landscape of the X-inactivation centre
    • [104] Nora, E.P., Lajoie, B.R., Schulz, E.G., Giorgetti, L., Okamoto, I., Servant, N., et al. Spatial partitioning of the regulatory landscape of the X-inactivation centre. Nature 485 (2012), 381–385.
    • (2012) Nature , vol.485 , pp. 381-385
    • Nora, E.P.1    Lajoie, B.R.2    Schulz, E.G.3    Giorgetti, L.4    Okamoto, I.5    Servant, N.6
  • 105
    • 84861095603 scopus 로고    scopus 로고
    • Topological domains in mammalian genomes identified by analysis of chromatin interactions
    • [105] Dixon, J.R., Selvaraj, S., Yue, F., Kim, A., Li, Y., Shen, Y., et al. Topological domains in mammalian genomes identified by analysis of chromatin interactions. Nature 485 (2012), 376–380.
    • (2012) Nature , vol.485 , pp. 376-380
    • Dixon, J.R.1    Selvaraj, S.2    Yue, F.3    Kim, A.4    Li, Y.5    Shen, Y.6
  • 106
    • 84911478490 scopus 로고    scopus 로고
    • Topologically associating domains are stable units of replication-timing regulation
    • [106] Pope, B.D., Ryba, T., Dileep, V., Yue, F., Wu, W., Denas, O., et al. Topologically associating domains are stable units of replication-timing regulation. Nature 515 (2014), 402–405.
    • (2014) Nature , vol.515 , pp. 402-405
    • Pope, B.D.1    Ryba, T.2    Dileep, V.3    Yue, F.4    Wu, W.5    Denas, O.6
  • 107
    • 84923366733 scopus 로고    scopus 로고
    • Chromatin architecture reorganization during stem cell differentiation
    • [107] Dixon, J.R., Jung, I., Selvaraj, S., Shen, Y., Antosiewicz-Bourget, J.E., Lee, A.Y., et al. Chromatin architecture reorganization during stem cell differentiation. Nature 518 (2015), 331–336.
    • (2015) Nature , vol.518 , pp. 331-336
    • Dixon, J.R.1    Jung, I.2    Selvaraj, S.3    Shen, Y.4    Antosiewicz-Bourget, J.E.5    Lee, A.Y.6
  • 108
    • 84924533047 scopus 로고    scopus 로고
    • Comparative Hi-C reveals that CTCF underlies evolution of chromosomal domain architecture
    • [108] Vietri Rudan, M., Barrington, C., Henderson, S., Ernst, C., Odom, D.T., Tanay, A., et al. Comparative Hi-C reveals that CTCF underlies evolution of chromosomal domain architecture. Cell Rep. 10 (2015), 1297–1309.
    • (2015) Cell Rep. , vol.10 , pp. 1297-1309
    • Vietri Rudan, M.1    Barrington, C.2    Henderson, S.3    Ernst, C.4    Odom, D.T.5    Tanay, A.6
  • 109
    • 84919949716 scopus 로고    scopus 로고
    • A 3D map of the human genome at kilobase resolution reveals principles of chromatin looping
    • [109] Rao, S.S.P., Huntley, M.H., Durand, N.C., Stamenova, E.K., Bochkov, I.D., Robinson, J.T., et al. A 3D map of the human genome at kilobase resolution reveals principles of chromatin looping. Cell 159 (2014), 1665–1680.
    • (2014) Cell , vol.159 , pp. 1665-1680
    • Rao, S.S.P.1    Huntley, M.H.2    Durand, N.C.3    Stamenova, E.K.4    Bochkov, I.D.5    Robinson, J.T.6
  • 110
    • 84895522959 scopus 로고    scopus 로고
    • Functional and topological characteristics of mammalian regulatory domains
    • [110] Symmons, O., Uslu, V.V., Tsujimura, T., Ruf, S., Nassari, S., Schwarzer, W., et al. Functional and topological characteristics of mammalian regulatory domains. Genome Res. 24 (2014), 390–400.
    • (2014) Genome Res. , vol.24 , pp. 390-400
    • Symmons, O.1    Uslu, V.V.2    Tsujimura, T.3    Ruf, S.4    Nassari, S.5    Schwarzer, W.6
  • 111
    • 0033529654 scopus 로고    scopus 로고
    • The protein CTCF is required for the enhancer blocking activity of vertebrate insulators
    • [111] Bell, A.C., West, A.G., Felsenfeld, G., The protein CTCF is required for the enhancer blocking activity of vertebrate insulators. Cell 98 (1999), 387–396.
    • (1999) Cell , vol.98 , pp. 387-396
    • Bell, A.C.1    West, A.G.2    Felsenfeld, G.3
  • 112
    • 0034713275 scopus 로고    scopus 로고
    • CTCF mediates methylation-sensitive enhancer-blocking activity at the H19/Igf2 locus
    • [112] Hark, A.T., Schoenherr, C.J., Katz, D.J., Ingram, R.S., Levorse, J.M., Tilghman, S.M., CTCF mediates methylation-sensitive enhancer-blocking activity at the H19/Igf2 locus. Nature 405 (2000), 486–489.
    • (2000) Nature , vol.405 , pp. 486-489
    • Hark, A.T.1    Schoenherr, C.J.2    Katz, D.J.3    Ingram, R.S.4    Levorse, J.M.5    Tilghman, S.M.6
  • 113
    • 84899415536 scopus 로고    scopus 로고
    • CTCF: an architectural protein bridging genome topology and function
    • [113] Ong, C.-T., Corces, V.G., CTCF: an architectural protein bridging genome topology and function. Nat. Rev. Genet. 15 (2014), 234–246.
    • (2014) Nat. Rev. Genet. , vol.15 , pp. 234-246
    • Ong, C.-T.1    Corces, V.G.2
  • 114
    • 84862777531 scopus 로고    scopus 로고
    • Insulators long-range interactions, and genome function
    • [114] Yang, J., Corces, V.G., Insulators long-range interactions, and genome function. Curr. Opin. Genet. Dev. 22 (2012), 86–92.
    • (2012) Curr. Opin. Genet. Dev. , vol.22 , pp. 86-92
    • Yang, J.1    Corces, V.G.2
  • 115
    • 84869003748 scopus 로고    scopus 로고
    • Gene density, transcription, and insulators contribute to the partition of the Drosophila genome into physical domains
    • [115] Hou, C., Li, L., Qin, Z.S., Corces, V.G., Gene density, transcription, and insulators contribute to the partition of the Drosophila genome into physical domains. Mol. Cell 48 (2012), 471–484.
    • (2012) Mol. Cell , vol.48 , pp. 471-484
    • Hou, C.1    Li, L.2    Qin, Z.S.3    Corces, V.G.4
  • 116
    • 84892445699 scopus 로고    scopus 로고
    • Making connections: insulators organize eukaryotic chromosomes into independent cis −regulatory networks
    • [116] Chetverina, D., Aoki, T., Erokhin, M., Georgiev, P., Schedl, P., Making connections: insulators organize eukaryotic chromosomes into independent cis −regulatory networks. Bioessays 36 (2013), 163–172.
    • (2013) Bioessays , vol.36 , pp. 163-172
    • Chetverina, D.1    Aoki, T.2    Erokhin, M.3    Georgiev, P.4    Schedl, P.5
  • 117
    • 38849121606 scopus 로고    scopus 로고
    • Cohesins functionally associate with CTCF on mammalian chromosome arms
    • [117] Parelho, V., Hadjur, S., Spivakov, M., Leleu, M., Sauer, S., Gregson, H.C., et al. Cohesins functionally associate with CTCF on mammalian chromosome arms. Cell 132 (2008), 422–433.
    • (2008) Cell , vol.132 , pp. 422-433
    • Parelho, V.1    Hadjur, S.2    Spivakov, M.3    Leleu, M.4    Sauer, S.5    Gregson, H.C.6
  • 118
    • 39149121436 scopus 로고    scopus 로고
    • Cohesin mediates transcriptional insulation by CCCTC-binding factor
    • [118] Wendt, K.S., Yoshida, K., Itoh, T., Bando, M., Koch, B., Schirghuber, E., et al. Cohesin mediates transcriptional insulation by CCCTC-binding factor. Nature 451 (2008), 796–801.
    • (2008) Nature , vol.451 , pp. 796-801
    • Wendt, K.S.1    Yoshida, K.2    Itoh, T.3    Bando, M.4    Koch, B.5    Schirghuber, E.6
  • 121
    • 84939246295 scopus 로고    scopus 로고
    • CRISPR inversion of CTCF sites alters genome topology and enhancer/promoter function
    • [121] Guo, Y., Xu, Q., Canzio, D., Shou, J., Li, J., Gorkin, D.U., et al. CRISPR inversion of CTCF sites alters genome topology and enhancer/promoter function. Cell 162 (2015), 900–910.
    • (2015) Cell , vol.162 , pp. 900-910
    • Guo, Y.1    Xu, Q.2    Canzio, D.3    Shou, J.4    Li, J.5    Gorkin, D.U.6
  • 122
    • 84875127327 scopus 로고    scopus 로고
    • CTCF and cohesin: linking gene regulatory elements with their targets
    • [122] Merkenschlager, M., Odom, D.T., CTCF and cohesin: linking gene regulatory elements with their targets. Cell 152 (2013), 1285–1297.
    • (2013) Cell , vol.152 , pp. 1285-1297
    • Merkenschlager, M.1    Odom, D.T.2
  • 123
    • 73649145481 scopus 로고    scopus 로고
    • Cohesin is required for higher-order chromatin conformation at the imprinted IGF2-H19 locus
    • [123] Nativio, R., Wendt, K.S., Ito, Y., Huddleston, J.E., Uribe-Lewis, S., Woodfine, K., et al. Cohesin is required for higher-order chromatin conformation at the imprinted IGF2-H19 locus. PLoS Genet., 5, 2009, e1000739.
    • (2009) PLoS Genet. , vol.5 , pp. e1000739
    • Nativio, R.1    Wendt, K.S.2    Ito, Y.3    Huddleston, J.E.4    Uribe-Lewis, S.5    Woodfine, K.6
  • 124
    • 84916880365 scopus 로고    scopus 로고
    • Control of cell identity genes occurs in insulated neighborhoods in mammalian chromosomes
    • [124] Dowen, J.M., Fan, Z.P., Hnisz, D., Ren, G., Abraham, B.J., Zhang, L.N., et al. Control of cell identity genes occurs in insulated neighborhoods in mammalian chromosomes. Cell 159 (2014), 374–387.
    • (2014) Cell , vol.159 , pp. 374-387
    • Dowen, J.M.1    Fan, Z.P.2    Hnisz, D.3    Ren, G.4    Abraham, B.J.5    Zhang, L.N.6
  • 127
    • 84890504911 scopus 로고    scopus 로고
    • Cohesin-based chromatin interactions enable regulated gene expression within pre-existing architectural compartments
    • [127] Seitan, V., Faure, A., Zhan, Y., McCord, R., Lajoie, B., Ing-Simmons, E., et al. Cohesin-based chromatin interactions enable regulated gene expression within pre-existing architectural compartments. Genome Res., 2013.
    • (2013) Genome Res.
    • Seitan, V.1    Faure, A.2    Zhan, Y.3    McCord, R.4    Lajoie, B.5    Ing-Simmons, E.6
  • 128
    • 77957139539 scopus 로고    scopus 로고
    • Mediator and cohesin connect gene expression and chromatin architecture
    • [128] Kagey, M.H., Newman, J.J., Bilodeau, S., Zhan, Y., Orlando, D.A., van Berkum, N.L., et al. Mediator and cohesin connect gene expression and chromatin architecture. Nature 467 (2010), 430–435.
    • (2010) Nature , vol.467 , pp. 430-435
    • Kagey, M.H.1    Newman, J.J.2    Bilodeau, S.3    Zhan, Y.4    Orlando, D.A.5    van Berkum, N.L.6
  • 129
    • 0032519586 scopus 로고    scopus 로고
    • Different core promoters possess distinct regulatory activities in the Drosophila embryo
    • [129] Ohtsuki, S., Levine, M., Cai, H.N., Different core promoters possess distinct regulatory activities in the Drosophila embryo. Genes Dev. 12 (1998), 547–556.
    • (1998) Genes Dev. , vol.12 , pp. 547-556
    • Ohtsuki, S.1    Levine, M.2    Cai, H.N.3
  • 130
    • 0035477093 scopus 로고    scopus 로고
    • Enhancer-promoter specificity mediated by DPE or TATA core promoter motifs
    • [130] Butler, J.E., Kadonaga, J.T., Enhancer-promoter specificity mediated by DPE or TATA core promoter motifs. Genes Dev. 15 (2001), 2515–2519.
    • (2001) Genes Dev. , vol.15 , pp. 2515-2519
    • Butler, J.E.1    Kadonaga, J.T.2
  • 131
    • 84925543087 scopus 로고    scopus 로고
    • Enhancer-core-promoter specificity separates developmental and housekeeping gene regulation
    • [131] Zabidi, M.A., Arnold, C.D., Schernhuber, K., Pagani, M., Rath, M., Frank, O., et al. Enhancer-core-promoter specificity separates developmental and housekeeping gene regulation. Nature 518 (2015), 556–559.
    • (2015) Nature , vol.518 , pp. 556-559
    • Zabidi, M.A.1    Arnold, C.D.2    Schernhuber, K.3    Pagani, M.4    Rath, M.5    Frank, O.6
  • 132
    • 0037047146 scopus 로고    scopus 로고
    • Promoter-proximal tethering elements regulate enhancer-promoter specificity in the Drosophila Antennapedia complex
    • [132] Calhoun, V.C., Stathopoulos, A., Levine, M., Promoter-proximal tethering elements regulate enhancer-promoter specificity in the Drosophila Antennapedia complex. Proc. Natl. Acad. Sci. U.S.A. 99 (2002), 9243–9247.
    • (2002) Proc. Natl. Acad. Sci. U.S.A. , vol.99 , pp. 9243-9247
    • Calhoun, V.C.1    Stathopoulos, A.2    Levine, M.3
  • 133
    • 84904567038 scopus 로고    scopus 로고
    • 3D trajectories adopted by coding and regulatory DNA elements: first-Passage times for genomic interactions
    • [133] Lucas, J.S., Zhang, Y., Dudko, O.K., Murre, C., 3D trajectories adopted by coding and regulatory DNA elements: first-Passage times for genomic interactions. Cell 158 (2014), 339–352.
    • (2014) Cell , vol.158 , pp. 339-352
    • Lucas, J.S.1    Zhang, Y.2    Dudko, O.K.3    Murre, C.4
  • 134
    • 84898766379 scopus 로고    scopus 로고
    • Development of five digits is controlled by a bipartite long-range cis-regulator
    • [134] Lettice, L.A., Williamson, I., Devenney, P.S., Kilanowski, F., Dorin, J., Hill, R.E., Development of five digits is controlled by a bipartite long-range cis-regulator. Development 141 (2014), 1715–1725.
    • (2014) Development , vol.141 , pp. 1715-1725
    • Lettice, L.A.1    Williamson, I.2    Devenney, P.S.3    Kilanowski, F.4    Dorin, J.5    Hill, R.E.6
  • 135
    • 84855804140 scopus 로고    scopus 로고
    • Shadow enhancers: frequently asked questions about distributed cis-regulatory information and enhancer redundancy
    • [135] Barolo, S., Shadow enhancers: frequently asked questions about distributed cis-regulatory information and enhancer redundancy. Bioessays 34 (2012), 135–141.
    • (2012) Bioessays , vol.34 , pp. 135-141
    • Barolo, S.1
  • 136
    • 84876216563 scopus 로고    scopus 로고
    • Master transcription factors and mediator establish super-enhancers at key cell identity genes
    • [136] Whyte, W.A., Orlando, D.A., Hnisz, D., Abraham, B.J., Lin, C.Y., Kagey, M.H., et al. Master transcription factors and mediator establish super-enhancers at key cell identity genes. Cell 153 (2013), 307–319.
    • (2013) Cell , vol.153 , pp. 307-319
    • Whyte, W.A.1    Orlando, D.A.2    Hnisz, D.3    Abraham, B.J.4    Lin, C.Y.5    Kagey, M.H.6
  • 137
    • 84874415687 scopus 로고    scopus 로고
    • Impact of copy number variations (CNVs) on long-range gene regulation at the HoxD locus
    • [137] Montavon, T., Thevenet, L., Duboule, D., Impact of copy number variations (CNVs) on long-range gene regulation at the HoxD locus. Proc. Natl. Acad. Sci. U. S. A. 109 (2012), 20204–20211.
    • (2012) Proc. Natl. Acad. Sci. U. S. A. , vol.109 , pp. 20204-20211
    • Montavon, T.1    Thevenet, L.2    Duboule, D.3
  • 138
    • 77953098883 scopus 로고    scopus 로고
    • 8q24 prostate, breast, and colon cancer risk loci show tissue-specific long-range interaction with MYC
    • [138] Ahmadiyeh, N., Pomerantz, M.M., Grisanzio, C., Herman, P., Jia, L., Almendro, V., et al. 8q24 prostate, breast, and colon cancer risk loci show tissue-specific long-range interaction with MYC. Proc. Natl. Acad. Sci. U. S. A. 107 (2010), 9742–9746.
    • (2010) Proc. Natl. Acad. Sci. U. S. A. , vol.107 , pp. 9742-9746
    • Ahmadiyeh, N.1    Pomerantz, M.M.2    Grisanzio, C.3    Herman, P.4    Jia, L.5    Almendro, V.6
  • 139
    • 84890717859 scopus 로고    scopus 로고
    • Role of SWI/SNF in acute leukemia maintenance and enhancer-mediated Myc regulation
    • [139] Shi, J., Whyte, W.A., Zepeda-Mendoza, C.J., Milazzo, J.P., Shen, C., Roe, J.S., et al. Role of SWI/SNF in acute leukemia maintenance and enhancer-mediated Myc regulation. Genes Dev. 27 (2013), 2648–2662.
    • (2013) Genes Dev. , vol.27 , pp. 2648-2662
    • Shi, J.1    Whyte, W.A.2    Zepeda-Mendoza, C.J.3    Milazzo, J.P.4    Shen, C.5    Roe, J.S.6
  • 140
    • 84921628643 scopus 로고    scopus 로고
    • A NOTCH1-driven MYC enhancer promotes T cell development, transformation and acute lymphoblastic leukemia
    • [140] Herranz, D., Ambesi-Impiombato, A., Palomero, T., Schnell, S.A., Belver, L., Wendorff, A.A., et al. A NOTCH1-driven MYC enhancer promotes T cell development, transformation and acute lymphoblastic leukemia. Nat. Med. 20 (2014), 1130–1137.
    • (2014) Nat. Med. , vol.20 , pp. 1130-1137
    • Herranz, D.1    Ambesi-Impiombato, A.2    Palomero, T.3    Schnell, S.A.4    Belver, L.5    Wendorff, A.A.6
  • 141
    • 0025107556 scopus 로고
    • A deletion of the human beta-globin locus activation region causes a major alteration in chromatin structure and replication across the entire beta-globin locus
    • [141] Forrester, W.C., Epner, E., Driscoll, M.C., Enver, T., Brice, M., Papayannopoulou, T., et al. A deletion of the human beta-globin locus activation region causes a major alteration in chromatin structure and replication across the entire beta-globin locus. Genes Dev. 4 (1990), 1637–1649.
    • (1990) Genes Dev. , vol.4 , pp. 1637-1649
    • Forrester, W.C.1    Epner, E.2    Driscoll, M.C.3    Enver, T.4    Brice, M.5    Papayannopoulou, T.6
  • 142
    • 67651205709 scopus 로고    scopus 로고
    • Disease-causing 7.4 kb cis-regulatory deletion disrupting conserved non-coding sequences and their interaction with the FOXL2 promotor: implications for mutation screening
    • [142] D'haene, B., Attanasio, C., Beysen, D., Dostie, J., Lemire, E., Bouchard, P., et al. Disease-causing 7.4 kb cis-regulatory deletion disrupting conserved non-coding sequences and their interaction with the FOXL2 promotor: implications for mutation screening. PLoS Genet., 5, 2009, e1000522.
    • (2009) PLoS Genet. , vol.5 , pp. e1000522
    • D'haene, B.1    Attanasio, C.2    Beysen, D.3    Dostie, J.4    Lemire, E.5    Bouchard, P.6
  • 143
    • 84876693685 scopus 로고    scopus 로고
    • 14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype
    • [143] Ellaway, C.J., Ho, G., Bettella, E., Knapman, A., Collins, F., Hackett, A., et al. 14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype. Eur. J. Hum. Genet. 21 (2013), 522–527.
    • (2013) Eur. J. Hum. Genet. , vol.21 , pp. 522-527
    • Ellaway, C.J.1    Ho, G.2    Bettella, E.3    Knapman, A.4    Collins, F.5    Hackett, A.6
  • 144
    • 33846617772 scopus 로고    scopus 로고
    • Long-range conserved non-coding SHOX sequences regulate expression in developing chicken limb and are associated with short stature phenotypes in human patients
    • [144] Sabherwal, N., Bangs, F., Röth, R., Weiss, B., Jantz, K., Tiecke, E., et al. Long-range conserved non-coding SHOX sequences regulate expression in developing chicken limb and are associated with short stature phenotypes in human patients. Hum. Mol. Genet. 16 (2007), 210–222.
    • (2007) Hum. Mol. Genet. , vol.16 , pp. 210-222
    • Sabherwal, N.1    Bangs, F.2    Röth, R.3    Weiss, B.4    Jantz, K.5    Tiecke, E.6
  • 145
    • 61349104285 scopus 로고    scopus 로고
    • Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence
    • [145] Benko, S., Fantes, J.A., Amiel, J., Kleinjan, D.-J., Thomas, S., Ramsay, J., et al. Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence. Nat. Genet. 41 (2009), 359–364.
    • (2009) Nat. Genet. , vol.41 , pp. 359-364
    • Benko, S.1    Fantes, J.A.2    Amiel, J.3    Kleinjan, D.-J.4    Thomas, S.5    Ramsay, J.6
  • 146
    • 14844341770 scopus 로고    scopus 로고
    • Elimination of a long-range cis-regulatory module causes complete loss of limb-specific Shh expression and truncation of the mouse limb
    • [146] Sagai, T., Hosoya, M., Mizushina, Y., Tamura, M., Shiroishi, T., Elimination of a long-range cis-regulatory module causes complete loss of limb-specific Shh expression and truncation of the mouse limb. Development 132 (2005), 797–803.
    • (2005) Development , vol.132 , pp. 797-803
    • Sagai, T.1    Hosoya, M.2    Mizushina, Y.3    Tamura, M.4    Shiroishi, T.5
  • 147
    • 55049108856 scopus 로고    scopus 로고
    • Regulation of a remote Shh forebrain enhancer by the Six3 homeoprotein
    • [147] Jeong, Y., Leskow, F.C., El-Jaick, K., Roessler, E., Muenke, M., Yocum, A., et al. Regulation of a remote Shh forebrain enhancer by the Six3 homeoprotein. Nat. Genet. 40 (2008), 1348–1353.
    • (2008) Nat. Genet. , vol.40 , pp. 1348-1353
    • Jeong, Y.1    Leskow, F.C.2    El-Jaick, K.3    Roessler, E.4    Muenke, M.5    Yocum, A.6
  • 149
    • 84890314164 scopus 로고    scopus 로고
    • Disruption of autoregulatory feedback by a mutation in a remote, ultraconserved PAX6 enhancer causes aniridia
    • [149] Bhatia, S., Bengani, H., Fish, M., Brown, A., Divizia, M.T., de Marco, R., et al. Disruption of autoregulatory feedback by a mutation in a remote, ultraconserved PAX6 enhancer causes aniridia. Am. J. Hum. Genet. 93 (2013), 1126–1134.
    • (2013) Am. J. Hum. Genet. , vol.93 , pp. 1126-1134
    • Bhatia, S.1    Bengani, H.2    Fish, M.3    Brown, A.4    Divizia, M.T.5    de Marco, R.6
  • 150
    • 84897855294 scopus 로고    scopus 로고
    • Obesity-associated variants within FTO form long-range functional connections with IRX3
    • [150] Smemo, S., Tena, J.J., Kim, K.-H., Gamazon, E.R., Sakabe, N.J., Gómez-Marín, C., et al. Obesity-associated variants within FTO form long-range functional connections with IRX3. Nature 507 (2014), 371–375.
    • (2014) Nature , vol.507 , pp. 371-375
    • Smemo, S.1    Tena, J.J.2    Kim, K.-H.3    Gamazon, E.R.4    Sakabe, N.J.5    Gómez-Marín, C.6
  • 151
    • 84898747287 scopus 로고    scopus 로고
    • Restless Legs syndrome-associated intronic common variant in Meis1 alters enhancer function in the developing telencephalon
    • [151] Spieler, D., Kaffe, M., Knauf, F., Bessa, J., Tena, J.J., Giesert, F., et al. Restless Legs syndrome-associated intronic common variant in Meis1 alters enhancer function in the developing telencephalon. Genome Res. 24 (2014), 592–603.
    • (2014) Genome Res. , vol.24 , pp. 592-603
    • Spieler, D.1    Kaffe, M.2    Knauf, F.3    Bessa, J.4    Tena, J.J.5    Giesert, F.6
  • 152
    • 84885620722 scopus 로고    scopus 로고
    • An erythroid enhancer of BCL11A subject to genetic variation determines fetal hemoglobin level
    • [152] Bauer, D.E., Kamran, S.C., Lessard, S., Xu, J., Fujiwara, Y., Lin, C., et al. An erythroid enhancer of BCL11A subject to genetic variation determines fetal hemoglobin level. Science 342 (2013), 253–257.
    • (2013) Science , vol.342 , pp. 253-257
    • Bauer, D.E.1    Kamran, S.C.2    Lessard, S.3    Xu, J.4    Fujiwara, Y.5    Lin, C.6
  • 153
    • 84861584357 scopus 로고    scopus 로고
    • Hereditary mixed polyposis syndrome is caused by a 40-kb upstream duplication that leads to increased and ectopic expression of the BMP antagonist GREM1
    • [153] Jaeger, E., Leedham, S., Lewis, A., Segditsas, S., Becker, M., Cuadrado, P.R., et al. Hereditary mixed polyposis syndrome is caused by a 40-kb upstream duplication that leads to increased and ectopic expression of the BMP antagonist GREM1. Nat. Genet. 44 (2012), 699–703.
    • (2012) Nat. Genet. , vol.44 , pp. 699-703
    • Jaeger, E.1    Leedham, S.2    Lewis, A.3    Segditsas, S.4    Becker, M.5    Cuadrado, P.R.6
  • 154
    • 51849131025 scopus 로고    scopus 로고
    • Triphalangeal thumb-polysyndactyly syndrome and syndactyly type IV are caused by genomic duplications involving the long-range, limb-specific SHH enhancer
    • [154] Sun, M., Ma, F., Zeng, X., Liu, Q., Zhao, X., Wu, F., et al. Triphalangeal thumb-polysyndactyly syndrome and syndactyly type IV are caused by genomic duplications involving the long-range, limb-specific SHH enhancer. J. Med. Genet., 2008.
    • (2008) J. Med. Genet.
    • Sun, M.1    Ma, F.2    Zeng, X.3    Liu, Q.4    Zhao, X.5    Wu, F.6
  • 155
    • 84908232480 scopus 로고    scopus 로고
    • Microduplications encompassing the sonic hedgehog limb enhancer ZRS are associated with haas-type polysyndactyly and Laurin-Sandrow syndrome
    • [155] Lohan, S., Spielmann, M., Doelken, S.C., Flöttmann, R., Muhammad, F., Baig, S.M., et al. Microduplications encompassing the sonic hedgehog limb enhancer ZRS are associated with haas-type polysyndactyly and Laurin-Sandrow syndrome. Clin. Genet., 2014.
    • (2014) Clin. Genet.
    • Lohan, S.1    Spielmann, M.2    Doelken, S.C.3    Flöttmann, R.4    Muhammad, F.5    Baig, S.M.6
  • 156
    • 68149169945 scopus 로고    scopus 로고
    • Duplications of noncoding elements 5’ of SOX9 are associated with brachydactyly-anonychia
    • [156] Kurth, I., Klopocki, E., Stricker, S., van Oosterwijk, J., Vanek, S., Altmann, J., et al. Duplications of noncoding elements 5’ of SOX9 are associated with brachydactyly-anonychia. Nat. Genet. 41 (2009), 862–863.
    • (2009) Nat. Genet. , vol.41 , pp. 862-863
    • Kurth, I.1    Klopocki, E.2    Stricker, S.3    van Oosterwijk, J.4    Vanek, S.5    Altmann, J.6
  • 157
    • 33745602535 scopus 로고    scopus 로고
    • Split-hand/split-foot malformation 3 (SHFM3) at 10q24, development of rapid diagnostic methods and gene expression from the region
    • [157] Lyle, R., Radhakrishna, U., Blouin, J.-L., Gagos, S., Everman, D.B., Gehrig, C., et al. Split-hand/split-foot malformation 3 (SHFM3) at 10q24, development of rapid diagnostic methods and gene expression from the region. Am. J. Med. Genet. A 140 (2006), 1384–1395.
    • (2006) Am. J. Med. Genet. A , vol.140 , pp. 1384-1395
    • Lyle, R.1    Radhakrishna, U.2    Blouin, J.-L.3    Gagos, S.4    Everman, D.B.5    Gehrig, C.6
  • 158
    • 84867276487 scopus 로고    scopus 로고
    • Homeotic arm-to-leg transformation associated with genomic rearrangements at the PITX1 locus
    • [158] Spielmann, M., Brancati, F., Krawitz, P.M., Robinson, P.N., Ibrahim, D.M., Franke, M., et al. Homeotic arm-to-leg transformation associated with genomic rearrangements at the PITX1 locus. Am. J. Hum. Genet. 91 (2012), 629–635.
    • (2012) Am. J. Hum. Genet. , vol.91 , pp. 629-635
    • Spielmann, M.1    Brancati, F.2    Krawitz, P.M.3    Robinson, P.N.4    Ibrahim, D.M.5    Franke, M.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.