Identification and Characterization of Human Genes Targeted by Natural Selection

다국어 초록 (Multilingual Abstract)

The human genome has evolved as a consequence of
evolutionary forces, such as natural selection. In this
study, we investigated natural selection on the human
genes by comparing the numbers of nonsynonymous
(NS) and synonymous (S) mutations in individual genes.
We initially collected all coding SNP data of all human
genes from the public dbSNP. Among the human genes,
we selected 3 different selection groups of genes: positively
selected genes (NS/S≥3), negatively selected
genes (NS/S≤1/3) and neutral selection genes (0.9
＜NS/S＜1.1). We characterized human genes targeted
by natural selection. Negatively selected human genes
were markedly associated with disease occurrence, but
not positively selected genes. Interestingly, positively selected
genes displayed an increase in potentially deleterious
nonsynonymous SNPs with an increased frequency
of tryptophan and tyrosine residues, suggesting
a correlation with protective effects against human
disease. Furthermore, our nonsynonymous/synonymous
ratio data imply that specific human genes, such as
ALMS1 and SPTBN5 genes, are differentially selected
among distinct populations. We confirmed that inferences
of natural selection using the NS/S ratio can
be used extensively to identify functional genes selected
during the evolutionary adaptation process.

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