Identification of a novel missense mutation of PEX7 gene in an Iranian patient with rhizomelic chondrodysplasia punctata type 1 |
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| Authors: | Parisa Mohamadynejad Kamran Ghaedi Yousef Shafeghati Ahmad Salamian Somayeh Tanhaie Fereshteh Karamali Farzaneh Rabiee Kazem Parivar Hossein Baharvand Mohammad Hossein Nasr-Esfahani |
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| Affiliation: | 1. Biology Department, Science and Research Branch, Islamic Azad University, Tehran, Iran;2. Department of Cell and Molecular Biology, Cell Science Research Center, Royan Institute for Biotechnology, ACECR, Isfahan, Iran;3. Biology Department, School of Sciences, University of Isfahan, Isfahan, Iran;4. Genetics Research Center, University of Social Welfare Sciences & Rehabilitation, Tehran, Iran;5. Sarem Cell Research Center and Medical Genetics Department, Sarem Women Hospital, Tehran, Iran;6. Department of Stem Cells and Developmental Biology, Cell Science Research Center, Royan Institute for Stem Cell Biology and Technology, ACECR, Tehran, Iran;g Developmental Biology Department, University of Science and Culture, ACECR, Tehran, Iran |
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| Abstract: | Deficiency in the PTS2 protein import pathway due to mutations in PEX7 gene results in the rhizomelic chondrodysplasia punctata (RCDP) type 1. In the present study, we have reported a novel missense mutation, W75R, in the PEX7 gene in an Iranian patient with the RCDP type 1. The inability of PEX7 protein to transport PTS2 containing proteins including peroxisomal 3-ketoacyl-CoA thiolase and PTS2-EGFP protein to the surface of the peroxisomes showed that the W75R mutation in PEX7 gene severely impaired the function of PEX7 protein and was responsible for RCDP type 1 in this patient. |
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| Keywords: | CDS, coding DNA sequence DMEM, Dulbecco's modified Eagle medium FBS, fetal bovine serum HRP, horseradish peroxidase PBS, phosphate-buffered saline PEX7, peroxisome biogenesis factor 7 PTS, peroxisomal targeting signal PTS1, PTS-type 1 PTS2, PTS-type 2 PVDF, polyvinylidenedifluoride RCDP, Rhizomelic chondrodysplasia punctata TBST, Tris-buffered saline with Tween |
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