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Related Experiment Video

Updated: May 13, 2026

In Vitro Ubiquitination and Deubiquitination Assays of Nucleosomal Histones

In Vitro Ubiquitination and Deubiquitination Assays of Nucleosomal Histones

Published on: July 25, 2019

BMPR1A mutations in juvenile polyposis affect cellular localization.

James R Howe¹, Fadi S Dahdaleh, Jennifer C Carr

¹Division of Surgical Oncology and Endocrine Surgery, Department of Surgery, University of Iowa Hospitals and Clinics, Iowa City, Iowa.

The Journal of Surgical Research

|February 26, 2013

Summary

This summary is machine-generated.

Mutations in bone morphogenetic protein receptor type 1A (BMPR1A) linked to juvenile polyposis (JP) alter the protein's cellular localization. This mislocalization in an in vitro model suggests a pathway disruption contributing to JP development.

Keywords:

Bone morphogenetic protein Juvenile polyposis Missense

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Last Updated: May 13, 2026

In Vitro Ubiquitination and Deubiquitination Assays of Nucleosomal Histones

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Published on: August 25, 2021

Area of Science:

Genetics and Molecular Biology
Cell Biology
Gastroenterology

Background:

Juvenile polyposis (JP) involves gastrointestinal hamartomatous polyps with malignant transformation risk.
Mutations in bone morphogenetic protein receptor type 1A (BMPR1A) are associated with JP predisposition.

Purpose of the Study:

To investigate the impact of BMPR1A missense mutations on the protein's cellular localization.
To explore a potential mechanism for JP pathogenesis related to BMPR1A function.

Main Methods:

Eight distinct BMPR1A mutations were introduced into a wild-type (WT) expression plasmid using site-directed mutagenesis.
HEK-293T cells were transfected with WT and mutant BMPR1A-green fluorescent protein constructs.
Confocal microscopy and a scoring system were used to quantify cellular and membrane localization.

Main Results:

All eight analyzed BMPR1A mutations exhibited reduced membrane localization and increased intracellular localization compared to WT BMPR1A.
Protein expression levels were comparable between WT and mutant constructs, as assessed by ELISA.
Mutations were located in the signaling peptide, extracellular, and intracellular domains of BMPR1A.

Conclusions:

BMPR1A missense mutations found in JP patients demonstrably alter protein cellular localization in an in vitro system.
Altered BMPR1A localization may disrupt bone morphogenetic protein pathway signaling, contributing to juvenile polyposis development.