Which are the rules dictating the responsiveness between genes and enhancers?
Álvaro Rada Iglesias
Institute of Biomedicine & Biotechnology of Cantabria (IBBTEC) (IBBTEC) [Santander]
The pathological consequences of structural variants disrupting 3D genome organization can be difficult to elucidate in vivo due to differences in gene dosage sensitivity between mice and humans. This is illustrated by Branchiooculofacial Syndrome (BOFS), a rare congenital disorder caused by heterozygous mutations within TFAP2A, a neural crest regulator for which humans, but not mice, are haploinsufficient. Here we present a BOFS patient carrying a heterozygous in