BMPR1A mutations in juvenile polyposis affect cellular localization.

ABSTRACT:

Background

Juvenile polyposis (JP) is characterized by the development of hamartomatous polyps of the gastrointestinal tract that collectively carry a significant risk of malignant transformation. Mutations in the bone morphogenetic protein receptor type 1A (BMPR1A) are known to predispose to JP. We set out to study the effect of such missense mutations on BMPR1A cellular localization.

Methods

We chose eight distinct mutations for analysis. We tagged a BMPR1A wild-type (WT) expression plasmid with green fluorescent protein on its C-terminus. Site-directed mutagenesis was used to recreate JP patient mutations from the WT-green fluorescent protein BMPR1A plasmid. We verified mutant expression vector sequences by direct sequencing. First, we transfected BMPR1A expression vector

SUBMITTER: Howe JR 

PROVIDER: S-EPMC3683109 | biostudies-literature | 2013 Oct

REPOSITORIES: biostudies-literature