GeneticsbioRxivPreprint
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…·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.