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In silico analysis of coding SNPs and 3′-UTR associated miRNAs in DCAF17 gene that may affect the regulation and pathogenesis of Woodhouse-Sakati Syndrome

View ORCID ProfileAbdelrahman H. Abdelmoneim, Asia M. Elrashied, Alaa I. Mohammed, Sara A. Mirghani, Rania E. Osman, Esraa O. Gadim, Mohamed A. Hassan
doi: https://doi.org/10.1101/601310
Abdelrahman H. Abdelmoneim
1Department of Biotechnology, Africa City of Technology, Sudan
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  • For correspondence: abduhamza009@gmail.com
Asia M. Elrashied
2Faculty of Botany, University of Khartoum, Sudan
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Alaa I. Mohammed
3Department of Hematology & Immunohematology, Faculty of Medical Laboratory Sciences, University of Khartoum, Sudan
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Sara A. Mirghani
1Department of Biotechnology, Africa City of Technology, Sudan
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Rania E. Osman
1Department of Biotechnology, Africa City of Technology, Sudan
4Alfarabi Medical Laboratory, Sudan
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Esraa O. Gadim
1Department of Biotechnology, Africa City of Technology, Sudan
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Mohamed A. Hassan
1Department of Biotechnology, Africa City of Technology, Sudan
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Abstract

Background Woodhouse-Sakati Syndrome refers to a group of inherited disorders characterized by alopecia, hypogonadism, diabetes mellitus, hypothyroidism and progressive extrapyramidal signs. The aim of this study is to identify the pathogenic SNPs in the DCAF17 gene with their related mciroRNAs and their effect on the structure and function of the protein.

Material and Methods We used different bioinformatics tools to predict the effect of each SNP on the structure and function of the protein. After that we defined the miRNAs founded in the 3′-UTR region on the DCAF17 gene and studied the annotations relative to it.

Results Ten deleterious SNPs out of 339 were found to have a damaging effect on the protein structure and function, with one significant micoRNA in the 3′-UTR region.

Conclusion This was the first in silico analysis of DCAF17 gene, in which 10 novel mutations were found using different bioinformatics tools that could be used as a diagnostic markers for Woodhouse-Sakati syndrome, with one relevant microRNA that can regulate the function of the protein.

Copyright 
The copyright holder for this preprint is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity. It is made available under a CC-BY-NC 4.0 International license.
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Posted April 12, 2019.
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In silico analysis of coding SNPs and 3′-UTR associated miRNAs in DCAF17 gene that may affect the regulation and pathogenesis of Woodhouse-Sakati Syndrome
Abdelrahman H. Abdelmoneim, Asia M. Elrashied, Alaa I. Mohammed, Sara A. Mirghani, Rania E. Osman, Esraa O. Gadim, Mohamed A. Hassan
bioRxiv 601310; doi: https://doi.org/10.1101/601310
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In silico analysis of coding SNPs and 3′-UTR associated miRNAs in DCAF17 gene that may affect the regulation and pathogenesis of Woodhouse-Sakati Syndrome
Abdelrahman H. Abdelmoneim, Asia M. Elrashied, Alaa I. Mohammed, Sara A. Mirghani, Rania E. Osman, Esraa O. Gadim, Mohamed A. Hassan
bioRxiv 601310; doi: https://doi.org/10.1101/601310

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