Prediction of Novel Pathogenic Mutations of Large MAF Family
| Autor: | Szu-Chun Yang, 楊斯淳 |
|---|---|
| Rok vydání: | 2019 |
| Druh dokumentu: | 學位論文 ; thesis |
| Popis: | 107 The large MAF family, including MAFA, MFAB, c-MAF and NRL, is known as a group of leucine zipper-containing transcription factors in the AP1 superfamily that plays important roles in cellular differentiation and cell type identification. Previous clinical studies reported the correlations between hereditary diseases and point mutations within human large MAF genes, whereas the mutations in MAFA and the clinical relevant have not been studied thoroughly. Since the domains in MAF proteins are highly conserved and contain pathogenic mutations, this study aimed to discover and identify the novel pathogenic mutations in MAFA. To identify mutation locations, all disease-related point mutations in other large MAF genes were firstly reviewed from the curated database such as OMIM and ClinVar. Next, amino acid sequences of MAFs obtained from online database UniProt were analyzed by alignment software, ClustalX and Jalview. The result demonstrated that the potential candidate mutations locate in transactivation domain included phosphorylation sites. The candidate mutations were further aligned with the disease-specific point mutations existed in healthy population and analyzed the possibility of rare missense variants using REVEL. In summary, these findings provided a novel screening method to identify pathogenic mutation points of large MAF family and this method could be applicable for the precision medicine. |
| Databáze: | Networked Digital Library of Theses & Dissertations |
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