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首页> 外文期刊>Annals of Human Genetics >Cis-acting Allelic Variation in MUC5B mRNA Expression is Associated with Different Promoter Haplotypes
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Cis-acting Allelic Variation in MUC5B mRNA Expression is Associated with Different Promoter Haplotypes

机译：MUC5B mRNA表达的顺式等位基因变异与不同的启动子单倍型相关。

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摘要

SummaryMucins play a critical role in protecting and clearing the airways of noxious materials. Genetic variation that influences this environmental response is likely to affect respiratory disease susceptibility. It has been reported previously that variation in the promoter of MUC5B, the gene that encodes one of the two major gel-forming mucins (MUC5B) of the mucus of the respiratory tract, is associated with susceptibility to diffuse panbronchiolitis, and that a genetic difference in promoter activity can be detected in vitro. The aim of this study was to determine whether this genetic difference in promoter activity can be detected in vivo. Here, we undertake RNA transcript expression studies, making use of human fetal tissue to explore constitutive differences. We compare in vivo transcript expression levels in heterozygotes and use the Bayesian method, PHASE to associate exonic simple nucleotide polymorphisms (SNPs) with promoter SNPs to generate haplotypes. We successfully show haplotypic differences in MUC5B expression in vivo. This genetic variation should be taken into account in future studies on MUC5B in respiratory disease.
机译：总结胶质蛋白在保护和清除呼吸道中的有害物质方面发挥着关键作用。影响这种环境反应的遗传变异可能会影响呼吸系统疾病的易感性。先前已有报道，MUC5B启动子的变异与编码弥漫性全细支气管炎的易感性有关，MUC5B的启动子是编码呼吸道黏液的两种主要凝胶形成性粘蛋白（MUC5B）之一的基因。启动子中的活性可以在体外检测到。这项研究的目的是确定是否可以在体内检测到这种启动子活性的遗传差异。在这里，我们进行RNA转录表达研究，利用人类胎儿组织探索组成差异。我们比较体内杂合子中的转录表达水平，并使用贝叶斯方法，PHASE将外显子简单核苷酸多态性（SNPs）与启动子SNPs关联以产生单倍型。我们成功地显示了MUC5B在体内表达的单倍型差异。在将来关于呼吸系统疾病的MUC5B研究中应考虑这种遗传变异。

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  • 来源
    《Annals of Human Genetics》 |2010年第6期|p.498-505|共8页
  • 作者

    Andrew X. Loh; Lauren Johnson; Wendy Ng; Dallas M. Swallow;

  • 作者单位

    Research Department of Genetics, Evolution and Environment, University College London, 4 Stephenson Way London NW12HE, UK|Current address School of Biological Sciences, Nanyang Technological University, 60 Nanyang Drive Singapore 637551, Singapore;

    Research Department of Genetics, Evolution and Environment, University College London, 4 Stephenson Way London NW12HE, UK;

    Research Department of Genetics, Evolution and Environment, University College London, 4 Stephenson Way London NW12HE, UK;

    Research Department of Genetics, Evolution and Environment, University College London, 4 Stephenson Way London NW12HE, UK;

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  • 正文语种 eng
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  • 关键词

    Mucin; MUC5B; RNA expression; promoter; cis-regulation; haplotype;

    机译：粘蛋白;MUC5B;RNA表达;启动子;顺式调控;单倍型;

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