Fregoso S P, Atapattu M, Callies L K, Monet D, Leonardson A, Clark L, Xu S, Cherry T J
Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, WA, USA.
Graduate Program in Molecular and Cellular Biology, University of Washington School of Medicine, Seattle, WA, USA.
bioRxiv. 2025 Aug 1:2025.07.31.668014. doi: 10.1101/2025.07.31.668014.
is a broadly and highly expressed microRNA in the developing brain and is frequently deleted in 5q14.3 Microdeletion Syndrome, a rare but severe neurodevelopmental disorder. Despite this, little attention has been paid to the unique contributions of to neurodevelopment and disease. We find that deletion of this microRNA leads to embryonic cerebral hemorrhages and severe hydrocephalus, while disrupting gene networks across a wide range of cell types in the developing brain, thus revealing underappreciated and non-redundant molecular, cellular, and system-wide functions for in neurodevelopment.
是一种在发育中的大脑中广泛且高度表达的微小RNA，在5q14.3微小缺失综合征中经常缺失，这是一种罕见但严重的神经发育障碍。尽管如此，人们对其对神经发育和疾病的独特贡献关注甚少。我们发现，这种微小RNA的缺失会导致胚胎期脑内出血和严重脑积水，同时扰乱发育中大脑广泛细胞类型中的基因网络，从而揭示了其在神经发育中未被充分认识且非冗余的分子、细胞和全系统功能。
