The project “Functional Characterization in Establishing the Causal Connection between MAP7D1 Gene Mutation-Shwachman Diamond Syndrome (SDS)” run by faculty member Prof. Dr. Arzu Karabay Korkmaz from ITU Molecular Biology and Genetics(MBG) Department was approved by COST Association.
SDS which is a rare autosomally recessive hereditary disease can be characterized by bone marrow deficiency, pancreatic insufficiency, and skeletal defects. As a result of genetic studies conducted with SDS cohort at Hacettepe University on a family whose members exhibit SDS phenotype, a mutation in microtubule related protein family member MAP7D1 protein was detected. According to the results of in silico analysis performed, it was discerned that the mutation in the microtubule binding region of MAP7D1 protein altered microtubule - MAP7D1 interaction considerably. Within the context of this project, by means of functional experimental studies to be carried out, it is aimed to demonstrate the possible role of the aforementioned mutation in SDS related symptoms of the family members. Thereby, at the end, it is also aimed to elucidate the possibility of MAP7D1 gene to be a new gene related with SDS.