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

H Hongmin Chen (Zhongshan Institute for Drug Discovery, Shanghai Institute of Materia Medica, Chinese Academy of Sciences) Y Ye Xing (Zhongshan Institute for Drug Discovery, Shanghai Institute of Materia Medica, Chinese Academy of Sciences) C Chunyan Wan (School of Chinese Materia Medica, Nanjing University of Chinese Medicine) Z Zheng Zhang Z Zhu Shi (School of Chinese Materia Medica, Nanjing University of Chinese Medicine) Y Yutao Liang (Zhongshan Institute for Drug Discovery, Shanghai Institute of Materia Medica, Chinese Academy of Sciences) C Chunlai Jin (Zhongshan Institute for Drug Discovery, Shanghai Institute of Materia Medica, Chinese Academy of Sciences) Y Yating Chen (State Key Laboratory and Institute of Elemento-Organic Chemistry, College of Chemistry, Frontiers Science Center for New Organic Matter, Nankai University, 94 Weijin Road, Tianjin 300071, China) X Xia Zhou J Junyu Xu (Zhongshan Institute for Drug Discovery, Shanghai Institute of Materia Medica, Chinese Academy of Sciences) L Louis J. Ptáček (Department of Neurology, University of California San Francisco) Y Ying-Hui Fu (Department of Neurology, University of California San Francisco) G Guangsen Shi (Zhongshan Institute for Drug Discovery, Shanghai Institute of Materia Medica, Chinese Academy of Sciences)

Abstract

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.

Article Details

Volume / Issue Vol. 122, Issue 19
Published May 13, 2025
ISSN 0027-8424
Publisher National Academy of Sciences

Authors (13)

H

Hongmin Chen

Zhongshan Institute for Drug Discovery, Shanghai Institute of Materia Medica, Chinese Academy of Sciences

Y

Ye Xing

Zhongshan Institute for Drug Discovery, Shanghai Institute of Materia Medica, Chinese Academy of Sciences

C

Chunyan Wan

School of Chinese Materia Medica, Nanjing University of Chinese Medicine

Z

Zheng Zhang

Z

Zhu Shi

School of Chinese Materia Medica, Nanjing University of Chinese Medicine

Y

Yutao Liang

Zhongshan Institute for Drug Discovery, Shanghai Institute of Materia Medica, Chinese Academy of Sciences

C

Chunlai Jin

Zhongshan Institute for Drug Discovery, Shanghai Institute of Materia Medica, Chinese Academy of Sciences

Y

Yating Chen

State Key Laboratory and Institute of Elemento-Organic Chemistry, College of Chemistry, Frontiers Science Center for New Organic Matter, Nankai University, 94 Weijin Road, Tianjin 300071, China

X

Xia Zhou

J

Junyu Xu

Zhongshan Institute for Drug Discovery, Shanghai Institute of Materia Medica, Chinese Academy of Sciences

L

Louis J. Ptáček

Department of Neurology, University of California San Francisco

Y

Ying-Hui Fu

Department of Neurology, University of California San Francisco

G

Guangsen Shi

Zhongshan Institute for Drug Discovery, Shanghai Institute of Materia Medica, Chinese Academy of Sciences