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| Content Provider | frontiers |
|---|---|
| Author | Zhang, Kaihui Sun, Wenxing Liu, Yi Lv, Yuqiang Hou, Daisen Lin, Yan Xu, Wei Zhao, Jianyuan Gai, Zhongtao Zhao, Shimin Yuan, Yiyuan |
| Abstract | Nonsense variants in KIDINS220/ARMS were identified as the main cause of spastic paraplegia, intellectual disability, nystagmus, and obesity (SINO) syndrome, a rare disease with birth defects in brachycephaly, neurological disorder, and obesity. The cause of neural cell dysfunction by KIDINS220/ARMS were extensively studied while the cause of obesity in SINO syndrome remains elusive. Here, we identified KIDINS220/ARMS as an adipocyte differentiation-regulating gene. A Chinese family, mother and her two sons, all showed severe symptoms of SINO syndrome. G-banding karyotyping, chromosome microarray analysis, and whole exome sequencing revealed a novel amber mutation, c.3934G>T (p. E1312X), which was close to the C-terminal region of KIDINS220/ARMS and resulted in the premature of the protein. Both the mRNA and protein levels of KIDINS220/ARMS gradually decreased during adipocyte differentiation. Knockdown of KINDINS220/ARMS could prompt adipocyte differentiation and lipid accumulation while overexpression of KIDINS220/ARMS decrease the rate of matured adipocytes. Furthermore, we demonstrated that KIDINS220/ARMS inhibits adipocyte maturation through sustained extracellular signal-regulated kinase signaling. In conclusion, this is the first report about a vertical heredity of severe dominant pathogenic mutation of KIDINS220/ARMS, suggested that KIDINS220/ARMS played a negative role in adipocyte maturation, explained the cause of obesity in SINO syndrome and could highlight the... |
| ISSN | 2296634X |
| DOI | 10.3389/fcell.2021.619475 |
| Volume Number | 9 |
| Journal | Frontiers in Cell and Developmental Biology |
| Language | English |
| Publisher Date | 2021-03-04 |
| Access Restriction | Open |
| Subject Keyword | Brachycephaly Adipocyte differentiaion SINO syndrome Obesity Kidins220/ARMS Intellectual Disability |
| Content Type | Text |
| Resource Type | Article |
| Subject | Cell Biology Developmental Biology |
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