2019年12月
Phenotypic analysis of mice carrying human-type MAFB p.Leu239Pro mutation
Biochemical and biophysical research communications
- 巻
- 523
- 号
- 2
- 開始ページ
- 452
- 終了ページ
- 457
- 記述言語
- 英語
- 掲載種別
- 研究論文(学術雑誌)
- DOI
- 10.1016/j.bbrc.2019.12.033
- 出版者・発行元
- ACADEMIC PRESS INC ELSEVIER SCIENCE
The transcription factor, MafB, plays important role in the differentiation and functional maintenance of various cells and tissues, such as the inner ear, kidney podocyte, parathyroid gland, pancreatic islet, and macrophages. The rare heterozygous substitution (p.Leu239Pro) of the DNA binding domain in MAFB is the cause of Focal Segmental Glomerulosclerosis associated with Duane Retraction Syndrome, which is characterized by impaired horizontal eye movement due to cranial nerve maldevelopment in humans. In this research, we generated mice carrying MafB p.Leu239Pro (Mafb) and retrieved their tissues for analysis. As a result, we found that the phenotype of Mafb mouse was similar to that of the conventional Mafb deficient mouse. This finding suggests that the Leucine residue at 239 in the DNA binding domain plays a key role in MafB function and could contribute to the diagnosis or development of treatment for patients carrying the MafB p.Leu239Pro missense variant.
- リンク情報
- ID情報
-
- DOI : 10.1016/j.bbrc.2019.12.033
- ISSN : 1090-2104
- PubMed ID : 31882119