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EpiTyping:使用RNA-seqq分析父母印记和X染色体失活中的表观遗传异常

Roni Sarel-Gallily¹, Gal Keshet², Shay Kinreich¹

¹The Azrieli Center for Stem Cells and Genetic Research, Department of Genetics, The Alexander Silberman Institute of Life Sciences, The Hebrew University of Jerusalem, Jerusalem, Israel.

Nature protocols

|November 2, 2023

概括

这项研究引入了一个生物信息管道来检测表观遗传异常,例如人类多能干细胞 (hPSC) 中的印记损失和X染色体失活,使用RNA测序数据.

科学领域:

干细胞生物学干细胞生物学
表观遗传学在表观遗传学中,表观遗传学是指表观遗传学.
生物信息学是一种生物信息学.

背景情况:

人类多能干细胞 (hPSCs) 对发育研究,疾病建模和再生医学至关重要.
hPSCs可以在培养过程中获得遗传和表观遗传修饰,包括印记错误和X染色体失活问题.
检测这些表观遗传异常对于确保hPSC在研究和临床应用中的可靠性至关重要.

研究的目的:

提出详细的生物信息学协议,用于识别hPSC中的表观遗传异常.
为分析RNA测序数据提供一个用户友好的管道,以检测印记损失和X染色体失活.
讨论hPSCs表观遗传变异对它们的应用的影响.

主要方法:

使用RNA测序数据开发生物信息管道.
对基因表达模式的分析,以确定印制基因的异常双列表达.
在女性hPSCs中区分正常的X染色体停活,完全激活和异常侵蚀的方法.

主要成果:

该管道通过检测异常的双列表达方式,成功地识别了印记的损失.
该协议可以区分女性hPSCs的X染色体失活的各种状态.
该软件容器可以在GitHub上为研究人员轻松获取.

结论:

开发的生物信息管道为检测hPSC中的关键表观遗传异常提供了一种可靠的方法.
了解和识别这些表观遗传变异对于hPSC在研究和再生医学中的准确使用至关重要.
该工具可用于具有基本Linux命令行知识的用户,并在1-4天内提供结果.

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