College of Bioinformatics Science and Technology, Harbin Medical University, Harbin, China.
PLoS One. 2011;6(11):e27871. doi: 10.1371/journal.pone.0027871. Epub 2011 Nov 30.
Detecting and interpreting certain system-level characteristics associated with human population genetic differences is a challenge for human geneticists. In this study, we conducted a population genetic study using the HapMap genotype data to identify certain special Gene Ontology (GO) categories associated with high/low genetic difference among 11 Hapmap populations. Initially, the genetic differences in each gene region among these populations were measured using allele frequency, linkage disequilibrium (LD) pattern, and transferability of tagSNPs. The associations between each GO term and these genetic differences were then identified. The results showed that cellular process, catalytic activity, binding, and some of their sub-terms were associated with high levels of genetic difference, and genes involved in these functional categories displayed, on average, high genetic diversity among different populations. By contrast, multicellular organismal processes, molecular transducer activity, and some of their sub-terms were associated with low levels of genetic difference. In particular, the neurological system process under the multicellular organismal process category had low levels of genetic difference; the neurological function also showed high evolutionary conservation between species in some previous studies. These results may provide a new insight into the understanding of human evolutionary history at the system-level.
检测和解释与人类群体遗传差异相关的某些系统水平特征是人类遗传学家面临的挑战。在这项研究中，我们使用 HapMap 基因型数据进行了一项群体遗传学研究，以确定与 11 个人群中的高/低遗传差异相关的某些特殊的基因本体论 (GO) 类别。最初，使用等位基因频率、连锁不平衡 (LD) 模式和标记 SNP 的可转移性来测量这些群体中每个基因区域的遗传差异。然后确定每个 GO 术语与这些遗传差异之间的关联。结果表明，细胞过程、催化活性、结合以及它们的一些子术语与高水平的遗传差异相关，并且涉及这些功能类别的基因在不同群体中表现出平均较高的遗传多样性。相比之下，多细胞生物体过程、分子转导活性以及它们的一些子术语与低水平的遗传差异相关。特别是，多细胞生物体过程类别下的神经系统过程具有低水平的遗传差异；在一些先前的研究中，神经功能在物种之间也表现出高度的进化保守性。这些结果可能为理解系统水平的人类进化历史提供新的视角。
