Functional impacts of non-synonymous single nucleotide polymorphisms: Selective constraint and structural environments
Functional impacts of non-synonymous single nucleotide polymorphisms: Selective constraint and structural environments
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DOI：
10.1016/j.febslet.2006.01.035
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发表时间：
2006-02-01
期刊：
影响因子：
3.5
通讯作者：
Cui, Y
中科院分区：
文献类型：
--
作者：
Bao, L;Cui, Y
在这项工作中，我们研究了非同义单核苷酸多态性（nsSNPs）的选择约束、结构环境和功能影响之间的相关性。我们发现，溶剂可及性与非单核苷酸多态性的功能影响之间的关系并不像一般认为的那样简单。为了揭示结构环境特征与其对非单核苷酸多态性功能影响之间的复杂关系，需要考虑更精细的结构分类。我们为每个结构环境引入了共识残差百分比和残差分布距离两个参数来表征环境施加的选择约束。这两个参数都与nssnp在结构环境中的功能偏差显著相关。这一结果表明，选择性约束是结构环境对某种类型的非单核苷酸多态性（疾病相关的或良性的）偏倚的基础。(c) 2006年欧洲生化学会联合会。Elsevier B.V.版权所有。
In this work, we studied the correlations between selective constraint, structural environments and functional impacts of non-synonymous single nucleotide polymorphisms (nsSNPs). We found that the relation between solvent accessibility and functional impacts of nsSNPs is not as simple as generally thought. Finer structural classifications need to be taken into account to reveal the complex relations between the characteristics of a structure environment and its influence on the functional impacts of nsSNPs. We introduced two parameters for each structural environment, consensus residue percentage and residue distribution distance, to characterize the selective constraint imposed by the environment. Both parameters significantly correlate with the functional bias of nsSNPs across the structural environments. This result shows that selective constraint underlies the bias of a structural environment towards a certain type of nsSNPs (disease-associated or benign). (c) 2006 Federation of European Biochemical Societies. Published by Elsevier B.V. All rights reserved.