BMPR1ABone Morphogenetic Protein Receptor 1 A

(Juvenile Polyposis & Colon Cancer)

Hallie Wieters

BMPR1A is part of a TGF-βReceptor Serine/Threonine Kinase

There are multiple ligands, receptors and many

SMADs

BMPs can regulate cell differentiation, growth inhibition

or apoptosis

KO BMPR1-A mutant mouse

leads to embryonic lethality due to

failed gastrulation

Continual loss of intestinal cells and repetitive cell cycle entry causes the

colon to be prone to mutations

Juvenile Polyposis leads to colon polyp formation and thus a predisposition to

colon cancer

Juvenile Polyposis is caused by germline mutations and loss of heterozygosity at BMPR1-A loci

Mutated BMPR1-A leads to increased proliferation, decreased

differentiation, increased number of stem cells and cell persistence

Scientists have created a mouse model of juvenile polyposis by

mutating BMPR1-A

Juvenile Polyposis can be diagnosed through genetic screening and treated

through colon surveillance

SummaryBMPR1A is a threonine/serine kinase receptor in the

TGF-βfamily (growth-inhibitorytumor suppressor)

Germline Mutations cause a nonfunctional receptor leading to propagation of proliferating signals and an increase stem cells

Inherited autosomal dominantly recessive at the cellular level

Lack of regulation in proliferation leads to development of polyps in the colon Juvenile Polyposis

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Zhou, Xiao-Ping et al. “Germline Mutations in BMPR1A/ALK3 Cause a Subset of Cases of Juvenile Polyposis Syndrome and of Cowden and Bannayan-Riley-Ruvalcaba Syndromes.” American Journal of Human Genetics 69.4 (2001): 704–711. Print.

Chen, Di, Mundy, G. “Bone Morphogenetic Proteins”. Growth Factors 22 (2004):233-241