Epigenomics Genetic Variation Mutation Pediatrics Psychiatry

Journal

Journal of medical genetics
ISSN: 1468-6244
Titre abrégé: J Med Genet
Pays: England
ID NLM: 2985087R

Informations de publication

Date de publication:
05 Mar 2024
Historique:
received: 09 05 2023
accepted: 21 02 2024
medline: 6 3 2024
pubmed: 6 3 2024
entrez: 5 3 2024
Statut: aheadofprint

Résumé

Epigenetics makes substantial contribution to the aetiology of autism spectrum disorder (ASD) and may harbour a unique opportunity to prevent the development of ASD. We aimed to identify novel epigenetic genes involved in ASD aetiology. Trio-based whole exome sequencing was conducted on ASD families. Genome editing technique was used to knock out the candidate causal gene in a relevant cell line. ATAC-seq, ChIP-seq and RNA-seq were performed to investigate the functional impact of knockout (KO) or mutation in the candidate gene. We identified a novel candidate gene We identified novel epigenetic mechanisms mediated by t

Sections du résumé

BACKGROUND BACKGROUND
Epigenetics makes substantial contribution to the aetiology of autism spectrum disorder (ASD) and may harbour a unique opportunity to prevent the development of ASD. We aimed to identify novel epigenetic genes involved in ASD aetiology.
METHODS METHODS
Trio-based whole exome sequencing was conducted on ASD families. Genome editing technique was used to knock out the candidate causal gene in a relevant cell line. ATAC-seq, ChIP-seq and RNA-seq were performed to investigate the functional impact of knockout (KO) or mutation in the candidate gene.
RESULTS RESULTS
We identified a novel candidate gene
CONCLUSION CONCLUSIONS
We identified novel epigenetic mechanisms mediated by t

Identifiants

DOI: 10.1136/jmg-2023-109385 PMID: 38443156
pubmed: 38443156
pii: jmg-2023-109385
doi: 10.1136/jmg-2023-109385
pii:
doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Informations de copyright

© Author(s) (or their employer(s)) 2024. No commercial re-use. See rights and permissions. Published by BMJ.

Déclaration de conflit d'intérêts

Competing interests: None declared.

Auteurs

Sipeng Zhang (S)

Department of Cell Biology, The Province and Ministry Co-sponsored Collaborative Innovation Center for Medical Epigenetics, Key Laboratory of Immune Microenvironment and Disease (Ministry of Education), Tianjin Key Laboratory of Medical Epigenetics, Tianjin Institute of Immunology, Tianjin Key Laboratory of Birth Defects for Prevention and Treatment, School of Basic Medical Sciences, Tianjin Medical University, Tianjin, China.

Jie Yang (J)

Department of Cell Biology, The Province and Ministry Co-sponsored Collaborative Innovation Center for Medical Epigenetics, Key Laboratory of Immune Microenvironment and Disease (Ministry of Education), Tianjin Key Laboratory of Medical Epigenetics, Tianjin Institute of Immunology, Tianjin Key Laboratory of Birth Defects for Prevention and Treatment, School of Basic Medical Sciences, Tianjin Medical University, Tianjin, China.

Dandan Ji (D)

Department of Cell Biology, The Province and Ministry Co-sponsored Collaborative Innovation Center for Medical Epigenetics, Key Laboratory of Immune Microenvironment and Disease (Ministry of Education), Tianjin Key Laboratory of Medical Epigenetics, Tianjin Institute of Immunology, Tianjin Key Laboratory of Birth Defects for Prevention and Treatment, School of Basic Medical Sciences, Tianjin Medical University, Tianjin, China.

Xinyi Meng (X)

Department of Cell Biology, The Province and Ministry Co-sponsored Collaborative Innovation Center for Medical Epigenetics, Key Laboratory of Immune Microenvironment and Disease (Ministry of Education), Tianjin Key Laboratory of Medical Epigenetics, Tianjin Institute of Immunology, Tianjin Key Laboratory of Birth Defects for Prevention and Treatment, School of Basic Medical Sciences, Tianjin Medical University, Tianjin, China.
ORCID: 0000-0002-9460-8003

Chonggui Zhu (C)

Department of Endocrinology, Tianjin Medical University General Hospital, Tianjin, China.

Gang Zheng (G)

National Supercomputer Center in Tianjin (NSCC-TJ), Tianjin, China.

Joseph Glessner (J)

Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.

Hui-Qi Qu (HQ)

Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.

Yuechen Cui (Y)

Department of Cell Biology, The Province and Ministry Co-sponsored Collaborative Innovation Center for Medical Epigenetics, Key Laboratory of Immune Microenvironment and Disease (Ministry of Education), Tianjin Key Laboratory of Medical Epigenetics, Tianjin Institute of Immunology, Tianjin Key Laboratory of Birth Defects for Prevention and Treatment, School of Basic Medical Sciences, Tianjin Medical University, Tianjin, China.

Yichuan Liu (Y)

Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.

Wei Wang (W)

The Institute of Psychology of the Chinese Academy of Sciences, Beijing, China.

Xiumei Li (X)

Department of Cell Biology, The Province and Ministry Co-sponsored Collaborative Innovation Center for Medical Epigenetics, Key Laboratory of Immune Microenvironment and Disease (Ministry of Education), Tianjin Key Laboratory of Medical Epigenetics, Tianjin Institute of Immunology, Tianjin Key Laboratory of Birth Defects for Prevention and Treatment, School of Basic Medical Sciences, Tianjin Medical University, Tianjin, China.

Hao Zhang (H)

Department of Cell Biology, The Province and Ministry Co-sponsored Collaborative Innovation Center for Medical Epigenetics, Key Laboratory of Immune Microenvironment and Disease (Ministry of Education), Tianjin Key Laboratory of Medical Epigenetics, Tianjin Institute of Immunology, Tianjin Key Laboratory of Birth Defects for Prevention and Treatment, School of Basic Medical Sciences, Tianjin Medical University, Tianjin, China.

Zhanjie Xiu (Z)

Department of Cell Biology, The Province and Ministry Co-sponsored Collaborative Innovation Center for Medical Epigenetics, Key Laboratory of Immune Microenvironment and Disease (Ministry of Education), Tianjin Key Laboratory of Medical Epigenetics, Tianjin Institute of Immunology, Tianjin Key Laboratory of Birth Defects for Prevention and Treatment, School of Basic Medical Sciences, Tianjin Medical University, Tianjin, China.
Department of Bioinformatics, School of Basic Medical Sciences, Tianjin Medical University, Tianjin, China.

Yan Sun (Y)

Department of Cell Biology, The Province and Ministry Co-sponsored Collaborative Innovation Center for Medical Epigenetics, Key Laboratory of Immune Microenvironment and Disease (Ministry of Education), Tianjin Key Laboratory of Medical Epigenetics, Tianjin Institute of Immunology, Tianjin Key Laboratory of Birth Defects for Prevention and Treatment, School of Basic Medical Sciences, Tianjin Medical University, Tianjin, China.

Ling Sun (L)

Laboratory of Biological Psychiatry, Institute of Mental Health, Tianjin Anding Hospital, Tianjin Medical University, Tianjin, China.

Jie Li (J)

Laboratory of Biological Psychiatry, Institute of Mental Health, Tianjin Anding Hospital, Tianjin Medical University, Tianjin, China.

Hakon Hakonarson (H)

Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.

Jin Li (J)

Department of Cell Biology, The Province and Ministry Co-sponsored Collaborative Innovation Center for Medical Epigenetics, Key Laboratory of Immune Microenvironment and Disease (Ministry of Education), Tianjin Key Laboratory of Medical Epigenetics, Tianjin Institute of Immunology, Tianjin Key Laboratory of Birth Defects for Prevention and Treatment, School of Basic Medical Sciences, Tianjin Medical University, Tianjin, China jli01@tmu.edu.cn qhxia@tmu.edu.cn.
Department of Rheumatology and Immunology, Tianjin Medical University General Hospital, Tianjin, China.
ORCID: 0000-0001-7024-3591

Qianghua Xia (Q)

Department of Cell Biology, The Province and Ministry Co-sponsored Collaborative Innovation Center for Medical Epigenetics, Key Laboratory of Immune Microenvironment and Disease (Ministry of Education), Tianjin Key Laboratory of Medical Epigenetics, Tianjin Institute of Immunology, Tianjin Key Laboratory of Birth Defects for Prevention and Treatment, School of Basic Medical Sciences, Tianjin Medical University, Tianjin, China jli01@tmu.edu.cn qhxia@tmu.edu.cn.
Department of Bioinformatics, School of Basic Medical Sciences, Tianjin Medical University, Tianjin, China.

Classifications MeSH