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在与严重流感感染相关的 rs12252-C 变异纯合的细胞中缺乏截短的 IFITM3 转录本。

Lack of Truncated IFITM3 Transcripts in Cells Homozygous for the rs12252-C Variant That is Associated With Severe Influenza Infection.

机构信息

Medical Research Council Human Immunology Unit, Weatherall Institute of Molecular Medicine, Oxford University.

Chinese Academy of Medical Sciences-Oxford Center for Translational Immunology, Nuffield Department of Medicine, Oxford University, United Kingdom.

出版信息

J Infect Dis. 2018 Jan 4;217(2):257-262. doi: 10.1093/infdis/jix512.

DOI:10.1093/infdis/jix512
PMID:29202190
Abstract

Interferon-induced transmembrane 3 (IFITM3) is known to restrict the entry of a range of enveloped viruses. The single nucleotide polymorphism rs12252-C within IFITM3 has been shown to be associated with severe influenza A virus infection. It has been suggested that rs12252-C results in expression of a truncated IFITM3 protein lacking the first 21 amino acids. By performing high-throughput RNA sequencing on primary dendritic cells and peripheral blood mononuclear cells isolated from pandemic H1N1 influenza and human immunodeficiency virus-1 (HIV-1) infected patients we show that full-length IFITM3 mRNA is dominantly expressed (>99%) across all rs12252 genotypes. Full-length IFITM3 protein can be detected in all genotypes.

摘要

干扰素诱导跨膜蛋白 3(IFITM3)已知可限制多种包膜病毒的进入。IFITM3 中的单核苷酸多态性 rs12252-C 已被证明与严重的甲型流感病毒感染有关。有人认为 rs12252-C 导致表达缺少前 21 个氨基酸的截断 IFITM3 蛋白。通过对大流行性 H1N1 流感和人类免疫缺陷病毒-1(HIV-1)感染患者分离的原代树突状细胞和外周血单核细胞进行高通量 RNA 测序,我们表明全长 IFITM3 mRNA 在所有 rs12252 基因型中均占主导地位(>99%)。所有基因型都可以检测到全长 IFITM3 蛋白。

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