In-silico Evaluation of Rare Codons and their Positions in the Structure of ATP8b1 Gene
Journal Title: Journal of Biomedical Physics and Engineering - Year 2019, Vol 9, Issue 1
Abstract
Background: Progressive familial intrahepatic cholestases (PFIC) are a spectrum of autosomal progressive liver diseases developing to end-stage liver disease. ATP8B1 deficiency caused by mutations in ATP8B1 gene encoding a P-type ATPase leads to PFIC1. The gene for PFIC1 has been mapped on a 19-cM region of 18q21- q22, and a gene defect in ATP8B1 can cause deregulations in bile salt transporters through decreased expression and/or activity of FXR. Point mutations are the most common, with the majority being missense or nonsense mutations. In addition, approximately 15% of disease-causing ATP8B1 mutations are annotated as splicing disrupting alteration given that they are located at exon-intron borders. Objective: Here, we describe the hidden layer of computational biology information of rare codons in ATP8B1, which can help us for drug design. Methods: Some rare codons in different locations of ATP8b1 gene were identified using several web servers and by in-silico modelling of ATP8b1 in Phyre2 and I-TASSER server, some rare codons were evaluated. Results: Some of these rare codons were located at special positions which seem to have a critical role in proper folding of ATP8b1 protein. Structural analysis showed that some of rare codons are related to mutations in ATP8B1 that are responsible for PFIC1 disease, which may have a critical role in ensuring the correct folding. Conclusion: Investigation of such hidden information can enhance our understanding of ATP8b1 folding. Moreover, studies of these rare codons help us to clarify their role in rational design of new and effective drugs.
Authors and Affiliations
M. Zarenezhad, S. M. Dehghani, F. Ejtehadi, S. M. B. Tabei
Keywords
Related Articles
- EP ID EP613380
- DOI -
- Views 122
- Downloads 0
Monte Carlo Simulation of Siemens Primus plus Linac for 6 and 18 MV Photon Beams
Objective: The aim of the present study is to simulate 6 MV and 18 MV photon beam energies of a Siemens Primus Plus medical linear accelerator (Linac) and to verify the simulation by comparing the results with the measur...
A Glance at the Errors of Some Studies on the Health Effects of High Background Natural Radiation Areas
There is no place on the Earth, the planet we live on, where the natural background radiation level is zero. Since the birth and even in our fetal stage, we have been exposed to different sources of natural radiation. Li...
Benchmarking of Siemens Linac in Electron Modes: 8-14 MeV Electron Beams
Background: Radiation therapy using electron beams is a promising method due to its physical dose distribution. Monte Carlo (MC) code is the best and most accurate technique for forespeaking the distribution of dose in r...
Exposure to Visible Light Emitted from Smartphones and Tablets Increases the Proliferation of Staphylococcus aureus: Can this be Linked to Acne?
Background: Due to rapid advances in modern technologies such as telecommunication technology, the world has witnessed an exponential growth in the use of digital handheld devices (e.g. smartphones and tablets). This dra...
Blocking Short-Wavelength Component of the Visible Light Emitted by Smartphones’ Screens Improves Human Sleep Quality
Background: It has been shown that short-wavelength blue component of the visible light spectrum can alter the circadian rhythm and suppress the level of melatonin hormone. The short-wavelength light emitted by smartphon...