| RRC ID |
89558
|
| 著者 |
Ogawa M, Kawano S, Katayama S, Ikeda N, Endo R, Mita T, Ikeuchi Y, Fukushima H, Miura D, Nakazawa T.
|
| タイトル |
KMT2C Knockdown impairs neuronal differentiation in human induced pluripotent stem cell-derived neural stem cells.
|
| ジャーナル |
MicroPubl Biol
|
| Abstract |
KMT2C mutations are strongly associated with autism spectrum disorder (ASD). Whereas multiplexed CRISPR screens show complete KMT2C knockout impairs neuronal differentiation, mixed-genotype pools cannot exclude non-autonomous paracrine effects. Furthermore, the functional effect of partial loss of function remains unclear. Here, we targeted KMT2C via shRNA knockdown in single-genotype cultures of human induced pluripotent stem cell-derived neural stem cells. Reduced KMT2C expression decreased the neuronal markers MAP2, HuC/D, and DCX. Our results demonstrate that partial, strictly cell-autonomous KMT2C insufficiency impairs neuronal stem cell differentiation into neurons, modeling the haploinsufficiency observed in patients to reveal a neurodevelopmental pathogenesis for ASD.
|
| 巻・号 |
2026
|
| 公開日 |
2026-1-1
|
| DOI |
10.17912/micropub.biology.002149
|
| PMID |
42421807
|
| PMC |
PMC13345183
|
| リソース情報 |
| ヒト・動物細胞 |
201B7(HPS0063) |
