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Clinical significance linked to functional defects in bone morphogenetic protein type 2 receptor, BMPR2
Myung-Jin Kim1, Seon Young Park1, Hae Ryung Chang1, Eun Young Jung1, Anudari Munkhjargal1, Jong-Seok Lim1, Myeong-Sok Lee1, Yonghwan Kim1,*
1Department of Biological Sciences, Sookmyung Women’s University, Seoul 04310, Republic of Korea
Bone morphogenetic protein type 2 receptor (BMPR2) is one of the transforming growth factor-モ (TGF-モ) superfamily receptors, playing diverse roles during embryonic development, vasculogenesis, and osteogenesis. Human BMPR2 consists of 1,038 amino acids and contains functionally conserved extracellular, transmembrane, kinase, and C-terminal cytoplasmic domains. Bone morphogenetic proteins (BMPs) engage the tetrameric complex, composed of BMPR2 and its corresponding type 1 receptors, which initiates SMAD family of proteins-mediated signal transduction leading to expression of target genes implicated in development or differentiation of the embryo, organs and bones. In particular, genetic alterations of BMPR2 gene are associated with several clinical disorders including representative pulmonary arterial hypertension, cancers, and metabolic diseases, which demonstrates the physiological importance of BMPR2. In this mini review, we will summarize recent findings regarding to the molecular basis of BMPR2 functions in BMP signaling and the versatile roles of BMPR2. In addition, various aspects of experimentally validated pathogenic mutations of BMPR2 and the linked human diseases will be discussed, which is important in the clinical setting for diagnostics and treatment.
Abstract, Accepted Manuscript(in press) [Submitted on April 10, 2017, Accepted on April 10, 2017]
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