环境致癌物不成比例地突变了与神经发育障碍有关的基因
Brennan H Baker1, Shaoyi Zhang2, Jeremy M Simon3
1Department of Environmental Health Sciences, Mailman School of Public Health, Columbia University, New York, NY, United States.
Frontiers in neuroscience
|August 21, 2023
概括
环境致癌物,如辐射和多环芳,可以不成比例地突变与神经发育障碍 (NDD) 相关的基因. 这项研究表明,环境因素可能导致NDD的遗传原因.
科学领域:
- 遗传学 是一个遗传学.
- 环境健康 环境健康
- 神经科学是一个神经科学.
背景情况:
- *在零星的精神病和发育障碍中,de novo突变具有重要意义.
- *环境致癌物在驱动神经发育障碍 (NDD) 突变中的作用尚未得到充分研究.
研究的目的:
- * 调查与疾病相关的基因组的环境突变脆弱性.
- * 探索序列特征如何影响疾病相关基因的突变脆弱性.
主要方法:
- *分析了来自受污染地区暴露于致癌物和肺癌的人类细胞系的全基因组测序数据.
- * 疾病相关基因与控制基因的突变率比较,使用精确的二项测试.
- * 模拟的序列长度,基因表达和GC含量对基因突变率的影响,使用准松回归.
主要成果:
- * 辐射和多环芳不成比例地突变了与自闭症谱系障碍,精神分裂症和多动症相关的基因.
- * 其他疾病 (如ALS和阿尔茨海默氏症) 的基因没有显著的突变偏差.
- * 序列长度,基因表达和GC含量对整个基因与编码序列的突变率产生了不同的影响.
结论:
- *环境变异原体可以不成比例地影响与NDD相关的基因.
- *研究结果支持环境诱导的生殖系和体质突变在NDD病因学中的作用.
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