As part of one of my research colleagues at the Genetic department in a public hospital, we came across a patient with skeletal abnormality and other symptoms (not relevant for my question).
We discovered a missense mutation (Polyphen> probably damaging ;SIFT: deleterious) on the DDR1 gene which is coding to a receptor tyrosine kinase. Expression of this protein is restricted to epithelial cells, particularly in the kidney, lung, gastrointestinal tract, and brain. We only have a blood sample from the patient at the moment and we may be able to get a skin fibroblasts sample.
Has anyone ever preformed a functional assay for that gene or has an idea for one (not using cells from one of the tissues above)?
Hi Shiran, your mutation can be inserted into the wt DDR1 and the efect on kinase activity compared in cell assay with the activity of wt DDR1 or other known mutants. We have tools for that in the lab.
Best,
Pavel Krejci ([email protected])
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