Functional dissection of the Sox9-Kcnj2 locus identifies nonessential and instructive roles of TAD architecture

Nat Genet. 2019 Aug;51(8):1263-1271.

Despang A^{1, 2, 3}, Schöpflin ^{1, 2, 3}, Franke M^{1, 4}, Ali ^{1, 2, 3}, Jerković I^{1, 2, 5}, Paliou C^{1, 2}, Chan WL², Timmermann B⁶, Wittler L⁷, Vingron M⁸, Mundlos S^{9, 10, 11}, Ibrahim DM^{12, 13, 14}.

1. RG Development & Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany.
2. Institute for Medical and Human Genetics, Charité Universitätsmedizin Berlin, Berlin, Germany.
3. BCRT-Berlin Institute of Health Center for Regenerative Therapies, Charité Universitätsmedizin, Berlin, Germany.
4. Centro Andaluz de Biología del Desarrollo, Consejo Superior de Investigaciones Científicas/Universidad Pablo de Olavide/Junta de Andalucía, Sevilla, Spain.
5. CNRS-Institute of Human Genetics, Montpellier, France.
6. Sequencing Core Facility, Max Planck Institute for Molecular Genetics, Berlin, Germany.
7. Department of Developmental Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany.
8. Department of Computational Molecular Biology, Max Planck Institute for Molecular Genetics, Berlin, Germany.
9. RG Development & Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany. mundlos@molgen.mpg.de.
10. Institute for Medical and Human Genetics, Charité Universitätsmedizin Berlin, Berlin, Germany. mundlos@molgen.mpg.de.
11. BCRT-Berlin Institute of Health Center for Regenerative Therapies, Charité Universitätsmedizin, Berlin, Germany. mundlos@molgen.mpg.de.
12. RG Development & Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany. ibrahim@molgen.mpg.de.
13. Institute for Medical and Human Genetics, Charité Universitätsmedizin Berlin, Berlin, Germany. ibrahim@molgen.mpg.de.
14. BCRT-Berlin Institute of Health Center for Regenerative Therapies, Charité Universitätsmedizin, Berlin, Germany. ibrahim@molgen.mpg.de.

Presented by Alexandra Despang