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体细胞缺失与精神分裂症患者及未受影响对照者脑细胞的功能多样性有关。

Somatic deletions implicated in functional diversity of brain cells of individuals with schizophrenia and unaffected controls.

作者信息

Kim Junho, Shin Jong-Yeon, Kim Jong-Il, Seo Jeong-Sun, Webster Maree J, Lee Doheon, Kim Sanghyeon

机构信息

Department of Bio and Brain Engineering, KAIST, 291 Daehak-ro, Yuseong-gu, Daejeon 305-701, Korea.

1] Genomic Medicine Institute (GMI), Medical Research Center, Seoul National, University, Seoul 110-799, Korea [2] Psoma Therapeutics Inc., Seoul, 153-781, Korea.

出版信息

Sci Rep. 2014 Jan 22;4:3807. doi: 10.1038/srep03807.

DOI:10.1038/srep03807
PMID:24448323
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3897957/
Abstract

While somatic DNA copy number variations (CNVs) have been identified in multiple tissues from normal people, they have not been well studied in brain tissues from individuals with psychiatric disorders. With ultrahigh depth sequencing data, we developed an integrated pipeline for calling somatic deletions using data from multiple tissues of the same individual or a single tissue type taken from multiple individuals. Using the pipelines, we identified 106 somatic deletions in DNA from prefrontal cortex (PFC) and/or cerebellum of two normal controls subjects and/or three individuals with schizophrenia. We then validated somatic deletions in 18 genic and in 1 intergenic region. Somatic deletions in BOD1 and CBX3 were reconfirmed using DNA isolated from non-pyramidal neurons and from cells in white matter using laser capture microdissection (LCM). Our results suggest that somatic deletions may affect metabolic processes and brain development in a region specific manner.

摘要

虽然在正常人的多个组织中已鉴定出体细胞DNA拷贝数变异（CNV），但在患有精神疾病个体的脑组织中尚未对其进行充分研究。利用超高深度测序数据，我们开发了一种综合流程，用于使用来自同一个体的多个组织或来自多个个体的单一组织类型的数据来调用体细胞缺失。使用该流程，我们在两名正常对照受试者和/或三名精神分裂症患者的前额叶皮质（PFC）和/或小脑的DNA中鉴定出106个体细胞缺失。然后，我们在18个基因区域和1个基因间区域验证了体细胞缺失。使用激光捕获显微切割（LCM）从非锥体神经元和白质细胞中分离的DNA，再次确认了BOD1和CBX3中的体细胞缺失。我们的结果表明，体细胞缺失可能以区域特异性方式影响代谢过程和大脑发育。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9427/3897957/50007b77a0f7/srep03807-f5.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9427/3897957/6f6fbd2aabb1/srep03807-f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9427/3897957/ddf2dab0761b/srep03807-f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9427/3897957/a6899dc1a0e7/srep03807-f3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9427/3897957/e71194a40aea/srep03807-f4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9427/3897957/50007b77a0f7/srep03807-f5.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9427/3897957/6f6fbd2aabb1/srep03807-f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9427/3897957/ddf2dab0761b/srep03807-f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9427/3897957/a6899dc1a0e7/srep03807-f3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9427/3897957/e71194a40aea/srep03807-f4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9427/3897957/50007b77a0f7/srep03807-f5.jpg

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