Trans-species polymorphism in humans and the great apes is generally maintained by balancing selection that modulates the host immune response.
Trans-species polymorphism in humans and the great apes is generally maintained by balancing selection that modulates the host immune response.
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DOI：
10.1186/s40246-015-0043-1
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发表时间：
2015-09-04
期刊：
影响因子：
4.5
通讯作者：
Cooper DN
中科院分区：
文献类型：
--
作者：
Azevedo L;Serrano C;Amorim A;Cooper DN
已知的在进化上相关的物种之间共享的古老的同源遗传变异的例子，被称为跨物种多态性（tsp），是由于作用于目标基因的平衡选择力使其具有抵抗传染性病原体的能力。迄今为止，人类和其他灵长类物种之间的推定tsp已被确定为高度多态性的主要组织相容性复合体（MHC），组织血ABO群，两个抗病毒基因（ZC3HAV1和TRIM5），一个自身免疫相关基因LAD1和几个假定具有调节作用的非编码基因组片段。尽管在长期平衡选择下，具有良好特征的tsp数量仍然非常少，但这些例子通过一条共同的线索联系在一起，即它们涉及在免疫系统中起关键作用的基因，并且在杂合性中，似乎赋予了对病原体的遗传抗性。在这里，我们回顾了已知的人类和类人猿在长期平衡选择下共享多态性的案例。尽管具体的选择性因子仍然未知，但这些tsp可能被视为构成了灵长类动物免疫系统进化过程中发生的重要适应性事件。
Known examples of ancient identical-by-descent genetic variants being shared between evolutionarily related species, known as trans-species polymorphisms (TSPs), result from counterbalancing selective forces acting on target genes to confer resistance against infectious agents. To date, putative TSPs between humans and other primate species have been identified for the highly polymorphic major histocompatibility complex (MHC), the histo-blood ABO group, two antiviral genes (ZC3HAV1 and TRIM5), an autoimmunity-related gene LAD1 and several non-coding genomic segments with a putative regulatory role. Although the number of well-characterized TSPs under long-term balancing selection is still very small, these examples are connected by a common thread, namely that they involve genes with key roles in the immune system and, in heterozygosity, appear to confer genetic resistance to pathogens. Here, we review known cases of shared polymorphism that appear to be under long-term balancing selection in humans and the great apes. Although the specific selective agent(s) responsible are still unknown, these TSPs may nevertheless be seen as constituting important adaptive events that have occurred during the evolution of the primate immune system.