Selection of Phototransduction Genes in Homo sapiens.
Selection of Phototransduction Genes in Homo sapiens.
复制标题
智人光转导基因的选择。
DOI：
10.1167/iovs.12-11454
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发表时间：
2013
影响因子：
4.4
通讯作者：
Abràmoff,MichaelD
中科院分区：
文献类型：
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作者：
Christopher,Mark;Scheetz,ToddE;Mullins,RobertF;Abràmoff,MichaelD
目的：我们在单核苷酸多态性（SNP）和基因水平上调查了人类光转导系统中最近正选择的证据。SNP基因分型数据来自国际人类基因组单体型图计划，用于欧洲，东亚和非洲人群，发现这些人群之间的单倍型长度和等位基因频率的差异。计算每个SNP的数字选择度量，并将其聚合为基因水平度量以测量最近正选择的证据。评价光转导基因中最近正选择的水平，并分别与先前显示处于最近选择下的一组基因和作为阳性和阴性对照的一组高度保守基因进行比较。评估的20个光转导基因中有6个具有高于第90百分位数的基因水平选择指标：RGS9、GNB1、RHO、PDE 6G、GNAT 1和SLC 24 A1。发现这些基因之间的选择信号与阳性对照基因具有相似的幅度，并且比阴性对照基因大得多。有证据表明参与视网膜光转导的基因中存在选择压力，并且可以使用等位基因变异的SNP水平和基因水平度量来证明这种选择压力的痕迹。我们推测这些基因的选择压力与它们在弱光视觉和视网膜对环境光变化的适应中的作用有关。揭示光转导中进化适应的潜在遗传学不仅可以更好地理解视觉和视觉疾病，而且还可以开发针对患者的诊断和干预策略。
Purpose.: We investigated the evidence of recent positive selection in the human phototransduction system at single nucleotide polymorphism (SNP) and gene level.Methods.: SNP genotyping data from the International HapMap Project for European, Eastern Asian, and African populations was used to discover differences in haplotype length and allele frequency between these populations. Numeric selection metrics were computed for each SNP and aggregated into gene-level metrics to measure evidence of recent positive selection. The level of recent positive selection in phototransduction genes was evaluated and compared to a set of genes shown previously to be under recent selection, and a set of highly conserved genes as positive and negative controls, respectively.Results.: Six of 20 phototransduction genes evaluated had gene-level selection metrics above the 90th percentile: RGS9, GNB1, RHO, PDE6G, GNAT1, and SLC24A1. The selection signal across these genes was found to be of similar magnitude to the positive control genes and much greater than the negative control genes.Conclusions.: There is evidence for selective pressure in the genes involved in retinal phototransduction, and traces of this selective pressure can be demonstrated using SNP-level and gene-level metrics of allelic variation. We hypothesize that the selective pressure on these genes was related to their role in low light vision and retinal adaptation to ambient light changes. Uncovering the underlying genetics of evolutionary adaptations in phototransduction not only allows greater understanding of vision and visual diseases, but also the development of patient-specific diagnostic and intervention strategies.