The SIK3-N783Y mutation is associated with the human natural short sleep trait.

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Tác giả: Hongmin Chen, Yating Chen, Ying-Hui Fu, Chunlai Jin, Yutao Liang, Louis J Ptáček, Guangsen Shi, Zhu Shi, Chunyan Wan, Ye Xing, Junyu Xu, Zheng Zhang, Xia Zhou

Ngôn ngữ: eng

Ký hiệu phân loại:

Thông tin xuất bản: United States : Proceedings of the National Academy of Sciences of the United States of America , 2025

Mô tả vật lý:

Bộ sưu tập: NCBI

ID: 744097

Sleep is an essential component of our daily life. A mutation in human salt induced kinase 3 (hSIK3), which is critical for regulating sleep duration and depth in rodents, is associated with natural short sleep (NSS), a condition characterized by reduced daily sleep duration in human subjects. This NSS hSIK3-N783Y mutation results in diminished kinase activity in vitro. In a mouse model, the presence of the NSS hSIK3-N783Y mutation leads to a decrease in sleep time and an increase in electroencephalogram delta power. At the phosphoproteomic level, the SIK3-N783Y mutation induces substantial changes predominantly at synaptic sites. Bioinformatic analysis has identified several sleep-related kinase alterations triggered by the SIK3-N783Y mutation, including changes in protein kinase A and mitogen-activated protein kinase. These findings underscore the conserved function of SIK3 as a critical gene in human sleep regulation and provide insights into the kinase regulatory network governing sleep.
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