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Rare NRXN1 missense variants identified in autism interfered protein degradation and Drosophila sleeping.
Liu, Yalan; Shen, Lu; Zhang, Yaowen; Zhao, Rongjuan; Liu, Cenying; Luo, Sanchuan; Chen, Jingjing; Xia, Lu; Li, Taoxi; Peng, Yu; Xia, Kun.
Affiliation
  • Liu Y; Department of Otolaryngology, Xiangya Hospital, Central South University, Changsha, China; Center for Medical Genetics and Hunan Provincial Key Laboratory for Medical Genetics, School of Life Sciences, Central South University, Changsha, China; Key Laboratory of Otolaryngology Major Disease Research
  • Shen L; Center for Medical Genetics and Hunan Provincial Key Laboratory for Medical Genetics, School of Life Sciences, Central South University, Changsha, China; Key Laboratory of Animal Models for Human Diseases of Hunan Province, Central South University, Changsha, China.
  • Zhang Y; Center for Medical Genetics and Hunan Provincial Key Laboratory for Medical Genetics, School of Life Sciences, Central South University, Changsha, China; Key Laboratory of Animal Models for Human Diseases of Hunan Province, Central South University, Changsha, China.
  • Zhao R; Center for Medical Genetics and Hunan Provincial Key Laboratory for Medical Genetics, School of Life Sciences, Central South University, Changsha, China; Key Laboratory of Animal Models for Human Diseases of Hunan Province, Central South University, Changsha, China.
  • Liu C; Center for Medical Genetics and Hunan Provincial Key Laboratory for Medical Genetics, School of Life Sciences, Central South University, Changsha, China; Key Laboratory of Animal Models for Human Diseases of Hunan Province, Central South University, Changsha, China.
  • Luo S; Center for Medical Genetics and Hunan Provincial Key Laboratory for Medical Genetics, School of Life Sciences, Central South University, Changsha, China; Key Laboratory of Animal Models for Human Diseases of Hunan Province, Central South University, Changsha, China.
  • Chen J; Center for Medical Genetics and Hunan Provincial Key Laboratory for Medical Genetics, School of Life Sciences, Central South University, Changsha, China; Key Laboratory of Animal Models for Human Diseases of Hunan Province, Central South University, Changsha, China.
  • Xia L; Center for Medical Genetics and Hunan Provincial Key Laboratory for Medical Genetics, School of Life Sciences, Central South University, Changsha, China; Key Laboratory of Animal Models for Human Diseases of Hunan Province, Central South University, Changsha, China.
  • Li T; Department of Otolaryngology, Xiangya Hospital, Central South University, Changsha, China; Center for Medical Genetics and Hunan Provincial Key Laboratory for Medical Genetics, School of Life Sciences, Central South University, Changsha, China; Key Laboratory of Otolaryngology Major Disease Research
  • Peng Y; Center for Medical Genetics and Hunan Provincial Key Laboratory for Medical Genetics, School of Life Sciences, Central South University, Changsha, China; Key Laboratory of Animal Models for Human Diseases of Hunan Province, Central South University, Changsha, China.
  • Xia K; Center for Medical Genetics and Hunan Provincial Key Laboratory for Medical Genetics, School of Life Sciences, Central South University, Changsha, China; CAS Center for Excellence in Brain Science and Intelligences Technology (CEBSIT), Shanghai, China; Key Laboratory of Medical Information Research,
J Psychiatr Res ; 143: 113-122, 2021 11.
Article in En | MEDLINE | ID: mdl-34487988
ABSTRACT
NRXN1 is involved in synaptogenesis and have been implicated in Autism spectrum disorders. However, many rare inherited missense variants of NRXN1 have not been thoroughly evaluated. Here, functional analyses in vitro and in Drosophila of three NRXN1 missense mutations, Y282H, L893V, and I1135V identified in ASD patients in our previous study were performed. Our results showed these three mutations interfered protein degradation compared with NRXN1-WT protein. Expressing human NRXN1 in Drosophila could lead to abnormal circadian rhythm and sleep behavior, and three mutated proteins caused milder phenotypes, indicating the mutations may change the function of NRXN1 slightly. These findings highlight the functional role of rare NRXN1 missense variants identified in autism patients, and provide clues for us to better understand the pathogenesis of abnormal circadian rhythm and sleep behavior of other organisms, including humans.
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Autistic Disorder / Autism Spectrum Disorder Type of study: Prognostic_studies Limits: Animals / Humans Language: En Journal: J Psychiatr Res Year: 2021 Document type: Article
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Autistic Disorder / Autism Spectrum Disorder Type of study: Prognostic_studies Limits: Animals / Humans Language: En Journal: J Psychiatr Res Year: 2021 Document type: Article