Open Access. Powered by Scholars. Published by Universities.®

Cell Biology Commons

Open Access. Powered by Scholars. Published by Universities.®

PDF

Mice

2013

Articles 1 - 1 of 1

Full-Text Articles in Cell Biology

Abnormal Trafficking Of Endogenously Expressed Bmpr2 Mutant Allelic Products In Patients With Heritable Pulmonary Arterial Hypertension, Andrea L Frump, Jonathan W. Lowery Ph.D., Rizwan Hamid, Eric D Austin, Mark De Caestecker Jan 2013

Abnormal Trafficking Of Endogenously Expressed Bmpr2 Mutant Allelic Products In Patients With Heritable Pulmonary Arterial Hypertension, Andrea L Frump, Jonathan W. Lowery Ph.D., Rizwan Hamid, Eric D Austin, Mark De Caestecker

Faculty Publications and Research

More than 200 heterozygous mutations in the type 2 BMP receptor gene, BMPR2, have been identified in patients with Heritable Pulmonary Arterial Hypertension (HPAH). More severe clinical outcomes occur in patients with BMPR2 mutations by-passing nonsense-mediated mRNA decay (NMD negative mutations). These comprise 40% of HPAH mutations and are predicted to express BMPR2 mutant products. However expression of endogenous NMD negative BMPR2 mutant products and their effect on protein trafficking and signaling function have never been described. Here, we characterize the expression and trafficking of an HPAH-associated NMD negative BMPR2 mutation that results in an in-frame deletion of BMPR2 EXON2 ...