Single Amino Acid Change Underlies Distinct Roles of H2A.Z Subtypes in Human Syndrome

The developmental disorder Floating-Harbor syndrome (FHS) is caused by heterozygous truncating mutations in SRCAP, a gene encoding a chromatin remodeler mediating incorporation of histone variant H2A.Z. Here, we demonstrate that FHS-associated mutations result in loss of SRCAP nuclear localization,...

Ausführliche Beschreibung