人体突变揭示了早期人类胚胎中不对称的细胞动态
Young Seok Ju1,2, Inigo Martincorena1, Moritz Gerstung1,3
1Cancer Genome Project, Wellcome Trust Sanger Institute, Hinxton CB10 1SA, UK.
Nature
|March 23, 2017
概括
早期人类胚胎的突变发生在每个细胞分裂中的三个基因替代率上. 这些马赛克突变揭示了成年组织的发育谱系和不对称的细胞贡献.
科学领域:
- 遗传学
- 发育生物学
- 基因组医学
背景情况:
- 身体细胞在整个生命中都会发生突变.
- 早期的胚胎突变会导致遗传疾病,易患癌症,并传播给后代.
- 尽管已知早期胚胎的染色体异常,但对早期胚胎的体质突变的理解有限.
研究的目的:
- 识别和描述人类早期的胚胎突变.
- 在早期人类胚胎形成过程中估计突变率.
- 重建发育系并了解细胞对成年组织的贡献.
主要方法:
- 通过对241名成年人的血液进行全基因组测序.
- 发现了163种早期胚胎突变.
- 分析突变特征和发展谱系的重建.
主要成果:
- 在早期人类胚胎发育中,每细胞发生大约三种基因替代突变.
- 鉴定出的突变主要归因于两个已知的突变特征.
- 证明了不对称的贡献 (约. 早期细胞复制的子细胞与成年血液的比率为2:1.
结论:
- 人类早期的胚胎形成需要大量的突变积累.
- 马赛克突变为早期细胞系及其对成年组织的贡献提供了洞察力.
- 不对称的细胞分裂模式在早期人类发育中很明显,并有助于成人的组织组成.
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