How similar are amino acid mutations in human genetic diseases and evolution.
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.
Wu
Hao
H
Shandong Provincial Research Center for Bioinformatic Engineering and Technique, Center for Advanced Study, Shandong University of Technology, Zibo 255049, PR China.
Ma
Bin-Guang
BG
Zhao
Ji-Tao
JT
Zhang
Hong-Yu
HY
D019943:Amino Acid Substitution; D000596:Amino Acids / Q000235:genetics*; D000818:Animals; D019143:Evolution, Molecular; D030342:Genetic Diseases, Inborn / Q000235:genetics*; D006801:Humans; D008957:Models, Genetic; D009154:Mutation
D000596:Amino Acids