Table 1.

TAD boundary disruptions and their effects.

Study	Size of the deletion/inversion	Mentioned CTCF sites?	Effect	Reference
Mouse embryos, Hox locus 4C	25 Kb and 35 Kb deletions	no	Increase interactions within a TAD Increase transcription of HoxD	[20]
Mouse embryos Hox locus 4C	2 Mb inversion	no	TAD boundary is moved.	[21]
Mouse embryos Tfap2c and Bmp7 locus 4C	0.3 Mb inversions	no	TAD boundary is moved Tfap2c is activated. Bmp7 is no longer expressed.	[22]
Mouse ESC 5C	58 Kb deletion	no	Initial boundary is disrupted New boundary formed	[6]
Human cells, Lamin B1 FISH, 4C	660 Kb deletion	no	Neurological disorder	[23]
Human and mouse cells Wnt6, Ihh, Epha4, Pax3 4C	Several deletion and inversions	no	Limb development malformation	[24]
Mouse β-globin locus 3C	Mutation in the CTCF binding site	yes	Disruption of the chromatin loop of the β-globin gene	[26]
Human ESC ChIA-PET	Deletion of CTCF site	yes	Dysregulation of genes	[32]
Human ESC and motor neurons 4C	Deletion of CTCF site	yes	TAD boundary is moved	[33]
Human cells 4C	Inversion of CTCF site	yes	Interactions are changed	[10]
Human cells 4C	Deletion of CTCF site	yes	Interactions are changed	[8]
Human cells Capture-C	Deletion of CTCF sites	yes	Chromatin loops are disrupted	[14]
Human cells PDGFRA 3C	Deletion of CTCF site	yes	Oncogene expression, disruption of a loop	[36]
Human cells Tal1 and Lmo2 5C	Tal1 locus 400 bp Lmo2 locus 27 Kb	yes	Oncogene expression New enhancer-promoter interactions	[39]