A human-specific structural variation at the ZNF558 locus controls a gene regulatory network during forebrain development
Pia Annette Johansson, Per Ludvik Brattås, Christopher H. Douse, PingHsun Hsieh, Julien Pontis, Daniela A. Grassi, Raquel Garza, Marie E. Jönsson, Diahann A. M. Atacho, Karolina Pircs, Feride Eren, Yogita Sharma, Jenny Johansson, Didier Trono, Evan E. Eichler, Johan Jakobsson
The paper identifies a human-specific structural variation at the ZNF558 locus that regulates a gene network involved in forebrain development by controlling SPATA18 expression through a VNTR contraction.
bioRxiv · Aug 18, 2020 · PreprintGenetics