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首页> 外文期刊>Journal of Molecular Biology >Structural Principles Governing Disease-Causing Germline Mutations
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Structural Principles Governing Disease-Causing Germline Mutations

机译：治疗疾病导致种系突变的结构原理

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Advancements in sequencing in the past decades enabled not only the determination of the human proteome but also the identification of a large number of genetic variations in the human population. The phenotypic effects of these mutations range from neutral for polymorphisms to severe for some somatic mutations. Disease-causing germline mutations (DCMs) represent a special and largely understudied class with relatively weak phenotypes. While for somatic mutations their effect on protein structure and regulation has been extensively studied in select cases, for germline mutations, this information is currently largely missing. In this analysis, a large amount of DCMs were analyzed and contrasted to polymorphisms from a structural point of view. Our results delineate the characteristic features of DCMs starting at the global level of partitioning proteins into globular, disordered and transmembrane classes, moving toward smaller structural units describing secondary structure elements and molecular surfaces, reaching down to the smallest structural entity, post-translational modifications. We show how these structural entities influence the emergence and possible phenotypic effects of DCMs. (C) 2018 The Authors. Published by Elsevier Ltd.
机译：过去几十年中排序的进步不仅能够确定人群的人群的大量遗传变异的确定。这些突变的表型效应范围从中性到多态性以严重的一些体细胞突变。导致疾病的种系突变（DCMS）代表一种特殊和大幅度的患者，具有相对较弱的表型。虽然对于各种对蛋白质结构和调节的影响，但在选择病例中已经过度研究了种系突变，而这种信息目前在很大程度上缺失。在该分析中，分析大量DCMS与来自结构的观点来看的多态性。我们的结果描绘了DCMS从全球分配蛋白水平开始的DCM的特征，进入球状，无序和跨膜等级，朝向描述二次结构元素和分子表面的较小结构单元，达到最小的结构实体，翻译后修改。我们展示了这些结构实体如何影响DCMS的出现和可能的表型效应。 （c）2018年作者。 elsevier有限公司出版

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