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Alternative RNA Splicing of CSF3R in Promoting Myelodysplastic Syndromes

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Virginia Commonwealth University Richmond United States

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More effective therapies for Myelodysplastic syndromes MDS can be developed if we learn more about how the disease develops. One of the most exciting advances has been the identification of mutations in genes encoding splicing factors. These occur in up to 85 of all patients with MDS. This group of proteins acts as a team to process the instructions messenger RNA that lead to the production of a specific protein. We have identified that the receptor for the most important growth factor for the production of granulocytes the white blood cells most affected in MDS is subject to splicing. These splicing changes result in a defective receptor, which fails to instruct blood cells to mature. We have developed a test to identify which specific splicing factor is involved in processing the messenger RNA for this receptor. We are identifying that specific splicing factor and are determining how to interrupt its defective splicing. Also, we have identified that this defective receptor results in too much growth and too little differentiation. We will develop a mouse model that will allow us to describe in greater, more accurate detail the molecular changes and cell behaviors due to the defective receptor. Our work will also allow us to screen for drugs that will correct the MDS condition by correcting the faulty splicing and may advance the use of the receptor as a clinical laboratory tool.

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Technical Report,13 Dec 2015,12 Dec 2016



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Approved For Public Release;

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