内质网氨肽酶II（ERAP2）的进化免疫遗传学。

IF 5 3区医学 Q1 GENETICS & HEREDITY

Genes and immunity Pub Date : 2023-11-04 DOI:10.1038/s41435-023-00225-8

Aroosha Raja, Jonas J. W. Kuiper

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引用次数: 0

摘要

内质网氨基肽酶2（ERAP2）是一种参与适应性免疫的蛋白水解酶。ERAP2基因具有高度多态性，编码的单倍型赋予了对致命传染病的抵抗力，但也增加了自身免疫性疾病的风险。要确定ERAP2如何影响对这些特征的易感性，需要了解在整个人类进化过程中塑造和维持等位基因变异的选择压力。我们的综述讨论了全球人群中自然发生的ERAP2同种型的单倍型和多样性的遗传调控。我们概述了这些ERAP2单倍型在人类历史上是如何进化的，并强调了现代人类ERAP2中尼安德特人DNA序列的存在。最近的证据表明，人类在过去约10000年的适应和历史性的流行病在ERAP2基因上留下了重要的印记，ERAP2基因决定了今天对传染病和炎症疾病的易感性。

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Evolutionary immuno-genetics of endoplasmic reticulum aminopeptidase II (ERAP2)

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Evolutionary immuno-genetics of endoplasmic reticulum aminopeptidase II (ERAP2)

Endoplasmic reticulum aminopeptidase 2 (ERAP2) is a proteolytic enzyme involved in adaptive immunity. The ERAP2 gene is highly polymorphic and encodes haplotypes that confer resistance against lethal infectious diseases, but also increase the risk for autoimmune disorders. Identifying how ERAP2 influences susceptibility to these traits requires an understanding of the selective pressures that shaped and maintained allelic variation throughout human evolution. Our review discusses the genetic regulation of haplotypes and diversity in naturally occurring ERAP2 allotypes in the global population. We outline how these ERAP2 haplotypes evolved during human history and highlight the presence of Neanderthal DNA sequences in ERAP2 of modern humans. Recent evidence suggests that human adaptation during the last ~10,000 years and historic pandemics left a significant mark on the ERAP2 gene that determines susceptibility to infectious and inflammatory diseases today.

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来源期刊

Genes and immunity 医学-免疫学

CiteScore

8.90

自引率

4.00%

发文量

审稿时长

6-12 weeks

期刊介绍： Genes & Immunity emphasizes studies investigating how genetic, genomic and functional variations affect immune cells and the immune system, and associated processes in the regulation of health and disease. It further highlights articles on the transcriptional and posttranslational control of gene products involved in signaling pathways regulating immune cells, and protective and destructive immune responses.