How similar are amino acid mutations in human genetic diseases and evolution

被引：16

作者：

Wu, Hao

Ma, Bin-Guang

Zhao, Ji-Tao

Zhang, Hong-Yu ^{[1
]}

机构：

[1] Shandong Univ Technol, Ctr Adv Study, Shandong Prov Res Ctr Bioinformat Engn & Tech, Zibo 255049, Peoples R China

[2] Suzhou Univ, Coll Chem & Chem Engn, Suzhou 215006, Peoples R China

来源：

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS | 2007年 / 362卷 / 02期

关键词：

genetic diseases; deleterious mutation; evolution; RESISTANCE; PATHOLOGY; SELECTION; DEAFNESS;

D O I：

10.1016/j.bbrc.2007.07.141

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Accumulating evidence indicates that some deleterious mutations responsible for genetic diseases may offer benefits for human to prevent other diseases. Therefore, human genetic diseases and evolution were tentatively regarded as the two sides of the same coin, which stimulated our interest to explore how similar are amino acid mutations in human genetic diseases and evolution. Through a large-scale analysis on amino acid mutation patterns of genetic diseases and evolution of Hominidae (Homo sapiens and Pan troglodytes), it was found that there exist significant correlations between two mutation patterns. Besides, there also exist some evident differences between both mutations, especially those associated with four amino acids C, G, R, and L. These findings are of significance to understanding the subtle connections between human genetic diseases and evolution. (C) 2007 Elsevier Inc. All rights reserved.

引用

页码：233 / 237

页数：5

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