The distribution of deleterious genetic variation in human populations
The distribution of deleterious genetic variation in human populations
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DOI：
10.1016/j.gde.2014.09.005
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发表时间：
2014-12-01
影响因子：
4
通讯作者：
Lohmueller, Kirk E.
中科院分区：
文献类型：
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作者：
Lohmueller, Kirk E.
群体遗传学研究表明，大多数氨基酸变化突变都是有害的。这种突变在人类群体遗传学中引起了极大的兴趣，因为它们对进化过程很重要，可能会增加常见疾病的风险。在过去的5年里，基因组研究记录了不同种群在杂合有害基因类型的数量、纯合子衍生的有害基因类型的数量、有害分离位点的数量和潜在有害基因位点的比例上的差异。这些差异被归因于种群历史影响了自然选择从种群中消除有害变异的能力。然而，最近的研究表明，不同人群的遗传负荷是相同的，自然选择的效果在不同人群中并没有不同。我在这里表明，这些观察结果并不是彼此不相容的，明显的差异是由于检查了遗传数据的不同特征和对术语的不同定义。
Population genetic studies suggest that most amino-acid changing mutations are deleterious. Such mutations are of tremendous interest in human population genetics as they are important for the evolutionary process and may contribute risk to common disease. Genomic studies over the past 5 years have documented differences across populations in the number of heterozygous deleterious genotypes, number of homozygous derived deleterious genotypes, number of deleterious segregating sites and proportion of sites that are potentially deleterious. These differences have been attributed to population history affecting the ability of natural selection to remove deleterious variants from the population. However, recent studies have suggested that the genetic load is the same across populations and that the efficacy of natural selection has not differed across human populations. Here I show that these observations are not incompatible with each other and that the apparent differences are due to examining different features of the genetic data and differing definitions of terms.