There are seven members of the APOBEC3 family in humans (APOBEC3A through APOBEC3H) that have antiviral activity against retroviruses and/or retroelements. To determine whether variants in APOBEC3 genes in human populations have altered antiviral activity, we identified and functionally tested novel single nucleotide variants (SNVs) in APOBEC3 genes present in the 1000 Genome Project dataset. We found that common variants minor allele frequency (> 1%) of APOBEC3A, C, F, and G do not affect protein function. However, we found that two common novel polymorphisms in APOBEC3D decrease antiviral activity against HIV-1, and one polymorphism decreases activity against Alu retrotransposons. We characterized the diversity of APOBEC3 genes in three human populations and find significant evidence that APOBEC3D has evolved under purifying selection in recent human history. These data suggest that the activity of APOBEC3D has been maintained in human populations for a cellular function in host defense.

中文翻译：

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人群中 APOBEC3 基因座中常见多态性的鉴定和抗病毒活性。

人类 APOBEC3 家族的七个成员（APOBEC3A 到 APOBEC3H）对逆转录病毒和/或逆转录因子具有抗病毒活性。为了确定人群中 APOBEC3 基因的变异是否改变了抗病毒活性，我们鉴定了 1000 基因组计划数据集中存在的 APOBEC3 基因中的新型单核苷酸变异 (SNV) 并对其进行了功能测试。我们发现 APOBEC3A、C、F 和 G 的常见变异次要等位基因频率 (> 1%) 不影响蛋白质功能。然而，我们发现 APOBEC3D 中两种常见的新型多态性会降低对 HIV-1 的抗病毒活性，一种多态性会降低对 Alu 逆转录转座子的活性。我们对三个人群中 APOBEC3 基因的多样性进行了表征，并发现了重要的证据，表明 APOBEC3D 在近代人类历史上是在纯化选择下进化的。这些数据表明 APOBEC3D 的活性在人类群体中一直保持在宿主防御中的细胞功能中。