Table 1.
Pathological Rewiring of Genetic Regulatory Interactions
| Genomic Locus on 2q36.1 | TAD and TBR Nucleotides (hESC, GRCh37/hg19)18(Size) | Structural Rearrangement (Associated Phenotype) |
|---|---|---|
| WNT6-IHH-DES | TBR: 219,731,756–219,851,756 (120 kb), TAD: 219,851,756–220,251,756 (400 kb), TBR: 220,251,756–220,411,756 (160 kb) |
inversion or duplication altering the 160 kb TBR and bringing the centromeric portion of the EPHA4-containing TAD into proximity with WNT6 (F-syndrome [MIM: 102510]) |
| duplication or deletion altering the 160 kb TBR and bringing IHH into proximity with the centromeric portion of the EPHA4-containing TAD (polydactyly) | ||
| EPHA4 | TAD: 220,411,756–222,891,756 (2.48 Mb) | deletion involving the TBR at 222,891,756 (brachydactyly) |
| PAX3 | TAD: 222,891,756–223,491,756 (600 kb) |
This table shows the pathological rewiring of genetic regulatory interactions of enhancer EPHA4 through different structural rearrangements altering the TAD boundaries (data presented herein are modified from Lupiãnez et al.20). Abbreviations are as follows: hESC, human embryonic stem cell; TAD, topologically associated domain; and TBR, topological boundary region.