用人类从头点突变数据重新讨论限制鸟嘌呤-胞嘧啶含量的中性动力学
Revisiting the Neutral Dynamics Derived Limiting Guanine-Cytosine Content Using the Human De Novo Point Mutation Data
摘要：
我们重新讨论中性进化下人类基因组鸟嘌呤-胞嘧啶含量的话题。对于本研究，使用人体内的从头突变数据来估计突变率，而不是使用相关物种之间的碱基置换数据。然后，我们定义了一种新的突变偏倚测量方法，将从头突变计数与背景鸟嘌呤-胞嘧啶含量本身分开，使不同数据集之间的比较更容易。我们通过将涉及CpG的突变事件分离为独立变量，推导出一个新的计算极限鸟嘌呤-胞嘧啶含量的公式。当考虑CpG参与的突变时，使用该公式，鸟嘌呤-胞嘧啶含量在中性动力学的极限下下降得不那么严重。我们提供的证据，在一定的假设下，isochore-like结构可能仍然是一个限制配置的中性突变动力学。
英文摘要：
We revisit the topic of human genome guanine-cytosine content under neutral evolution. For this study, the de novo mutation data within human is used to estimate mutational rate instead of using base substitution data between related species. We then define a new measure of mutation bias which separate the de novo mutation counts from the background guanine-cytosine content itself, making comparison between different datasets easier. We derive a new formula for calculating limiting guanine-cytosine content by separating CpG-involved mutational events as an independent variable. Using the formula when CpG-involved mutations are considered, the guanine-cytosine content drops less severely in the limit of neutral dynamics. We provide evidence, under certain assumptions, that an isochore-like structure might remain as a limiting configuration of the neutral mutational dynamics.
机构、总结、中文摘要均由AI分析而来，可能存在错误，请以论文正文为准。
