De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders-Reference-Cited by-同舟云学术

De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders

Published:2022-08-19 Issue:33 Volume:8 Page:
ISSN:2375-2548
Container-title:Science Advances
language:en
Short-container-title:Sci. Adv.

Author:

Jia Xiangbin¹^ORCID,Zhang Shujie²³^ORCID,Tan Senwei¹^ORCID,Du Bing¹,He Mei¹⁴,Qin Haisong²^ORCID,Chen Jia¹^ORCID,Duan Xinyu⁵^ORCID,Luo Jingsi²,Chen Fei²^ORCID,Ouyang Luping²,Wang Jian³^ORCID,Chen Guodong¹,Yu Bin¹,Zhang Ge¹,Zhang Zimin¹,Lyu Yongqing¹,Huang Yi⁶,Jiao Jian⁶,Chen Jin Yun (Helen)⁷,Swoboda Kathryn J.⁸^ORCID,Agolini Emanuele⁹,Novelli Antonio⁹,Leoni Chiara¹⁰^ORCID,Zampino Giuseppe¹⁰¹¹¹²¹³^ORCID,Cappuccio Gerarda¹⁴¹⁵^ORCID,Brunetti-Pierri Nicola¹⁴¹⁵^ORCID,Gerard Benedicte¹⁶^ORCID,Ginglinger Emmanuelle¹⁷^ORCID,Richer Julie¹⁸,McMillan Hugh¹⁹^ORCID,White-Brown Alexandre²⁰,Hoekzema Kendra²¹^ORCID,Bernier Raphael A.²²,Kurtz-Nelson Evangeline C.²³^ORCID,Earl Rachel K.²²,Meddens Claartje²⁴²⁵,Alders Marielle²⁶,Fuchs Meredith²⁷,Caumes Roseline²⁸,Brunelle Perrine²⁹^ORCID,Smol Thomas²⁹^ORCID,Kuehl Ryan³⁰,Day-Salvatore Debra-Lynn³⁰,Monaghan Kristin G.³¹,Morrow Michelle M.³¹^ORCID,Eichler Evan E.²¹³²^ORCID,Hu Zhengmao¹,Yuan Ling¹,Tan Jieqiong¹^ORCID,Xia Kun¹³³³⁴^ORCID,Shen Yiping²³³⁵^ORCID,Guo Hui¹³⁶^ORCID

Affiliation:

1. Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University; Changsha, Hunan 410078, China.

2. Genetic and Metabolic Central Laboratory, Birth Defects Prevention and Control Institute of Guangxi Zhuang Autonomous Region, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning 530003, China.

3. Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children’s Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai 200000, China.

4. NHC Key Laboratory of Birth Defect for Research and Prevention, Hunan Provincial Maternal and Child Health Care Hospital, Hunan, China.

5. Department of Pediatrics, Daping Hospital, Army Medical University, Chongqing, China.

6. Mental Health Center, West China Hospital of Sichuan University, Chengdu 610000, China.

7. Massachusetts General Hospital Neurogenetics Unit, Department of Neurology, Massachusetts General Brigham, Boston, MA 02114, USA.

8. Center for Genomic Medicine, Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02115, USA.

9. Laboratory of Medical Genetics, Bambino Gesù Children’s Hospital, IRCCS, Rome 00165, Italy.

10. Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli-IRCCS, Rome 00168, Italy.

11. Faculty of Medicine and Surgery, Catholic University of the Sacred Heart, Rome 00168, Italy.

12. Fondazione Policlinico Universitario Agostino Gemelli Dipartimento Scienze della Salute della Donna e del Bambino, Rome, Italy.

13. Università Cattolica S. Cuore, Dipartimento Scienze della Vita e Sanità Pubblica, Rome, Italy.

14. Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy.

15. Department of Translational Medicine, Federico II University, Naples, Italy.

16. Institut de Génétique Médicale d’Alsace (IGMA), Laboratoire de Diagnostic Génétique, Hôpitaux universitaires de Strasbourg, Strasbourg, Alsace, France.

17. Service de Génétique, Centre Hospitalier de Mulhouse, Mulhouse, Alsace, France.

18. Department of Medical Genetics, Children’s Hospital of Eastern Ontario, Ottawa, Ontario, Canada.

19. Department of Pediatrics, Neurology and Neurosurgery, Montreal Children’s Hospital, McGill University, Montreal, Canada.

20. Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.

21. Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.

22. Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA 98195, USA.

23. Department of Pediatrics, Indiana University School of Medicine, Indianapolis, IN 46202, USA.

24. Amsterdam University Medical Center, Department of Clinical Genetics, Amsterdam, Netherlands.

25. University Medical Center Utrecht, Department of Paediatrics, Utrecht, Netherlands.

26. Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, Netherlands.

27. Pediatrics and Genetics, Alpharetta, GA 30005, USA.

28. CHU Lille, Clinique de Génétique, Guy Fontaine, F-59000 Lille, France.

29. Institut de Génétique Médicale, Université de Lille, ULR7364 RADEME, CHU Lille, F-59000 Lille, France.

30. Department of Medical Genetics and Genomic Medicine, Saint Peter’s University Hospital, New Brunswick, NJ 08901, USA.

31. GeneDx, Gaithersburg, MD 20877, USA.

32. Howard Hughes Medical Institute, University of Washington, Seattle, WA 98195, USA.

33. CAS Center for Excellence in Brain Science and Intelligences Technology (CEBSIT), Chinese Academy of Sciences, Shanghai 200000, China.

34. Hengyang Medical School, University of South China, Hengyang, China.

35. Division of Genetics and Genomics, Boston Children’s Hospital, Harvard Medical School, Boston, MA 02115, USA.

36. Hunan Key Laboratory of Animal Models for Human Diseases, Changsha, Hunan 410078, China.

Abstract

Stress granules (SGs) are cytoplasmic assemblies in response to a variety of stressors. We report a new neurodevelopmental disorder (NDD) with common features of language problems, intellectual disability, and behavioral issues caused by de novo likely gene-disruptive variants in UBAP2L , which encodes an essential regulator of SG assembly. Ubap2l haploinsufficiency in mouse led to social and cognitive impairments accompanied by disrupted neurogenesis and reduced SG formation during early brain development. On the basis of data from 40,853 individuals with NDDs, we report a nominally significant excess of de novo variants within 29 genes that are not implicated in NDDs, including 3 essential genes ( G3BP1 , G3BP2 , and UBAP2L ) in the core SG interaction network. We validated that NDD-related de novo variants in newly implicated and known NDD genes, such as CAPRIN1 , disrupt the interaction of the core SG network and interfere with SG formation. Together, our findings suggest the common SG pathology in NDDs.

Publisher

American Association for the Advancement of Science (AAAS)

Subject

Multidisciplinary

Reference74 articles.

1. Neurodevelopmental Disorders: From Genetics to Functional Pathways

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5. Neuronal Subtype-Specific Genes that Control Corticospinal Motor Neuron Development In Vivo

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