| First Author | Li C | Year | 2021 |
| Journal | Cell Death Dis | Volume | 12 |
| Issue | 1 | Pages | 75 |
| PubMed ID | 33436552 | Mgi Jnum | J:313960 |
| Mgi Id | MGI:6803225 | Doi | 10.1038/s41419-020-03363-3 |
| Citation | Li C, et al. (2021) SRPS associated protein WDR60 regulates the multipolar-to-bipolar transition of migrating neurons during cortical development. Cell Death Dis 12(1):75 |
| abstractText | Mutations of WD40 repeat domain 60 (WDR60) have been identified in short-rib polydactyly syndromes (SRPS I-V), a group of lethal congenital disorders characterized by short ribs, polydactyly, and a range of extraskeletal phenotypes. However, the underlying mechanism is still unclear. Here, we report that WDR60 is essential for embryonic development and plays a critical role in the multipolar-bipolar transition and migration of newborn neurons during brain development. Mechanically, we found that WDR60 was located at the microtubule-organizing center to control microtubule organization and possibly, the trafficking of cellular components. Importantly, the migration defect caused by Wdr60 knockdown could be rescued by the stable form of alpha-Tubulin, alpha-Tubulin(K40Q) (an acetylation-mimicking mutant). These findings identified a non-cilia function of WDR60 and provided insight into its biological function, as well as the pathogenesis of WDR60 deficiency associated with SRPS. |
