Functional Analysis of<i>HSF4</i>Mutations Found in Patients With Autosomal Recessive Congenital Cataracts

Abstract

The three HSF4 autosomal recessive mutations evaluated here result in a loss of HSF4 function due to a loss of regulatory domains present at the C-terminal end. These findings collectively indicate that the transcriptional activation of HSF4 is mediated by interactions between activator and repressor domains within the C-terminal end.