The Homodimerization Propensities of Transmembrane Helices Selected from a Combinatorial Library Characterized using In Vivo Phosphorylation and Dimerization Assays

Abstract

Mutations in Fibroblast Growth Factor Receptor (FGFR) have been linked to dysplasias of the skeletal system and the cranium. Many of these pathogenic mutations occur in fibroblast growth factor receptor 3 (FGFR3). A single amino acid mutation in the transmembrane domain (TM), A391E, was identified, leading to disturbances of the growth of the cranium. It is the genetic cause for Crouzon syndrome with acanthosis nigricans. We investigated the effect of