A Peking Man Adaptive Evolution Study Base On The Loss Of Function Mutation

Loss of function mutation can affect the gene function and phenotype,change the individual's adaptability.These genes will be selected by environment during a long period of adaptive evolution process.As a supplement to harmful mutations discovered in disease genome research,we expect to excavate genes carrying loss of function mutation that had been selected positively by environment in this study.Then we discuss how the gene function silencing events affect the phenotype changing beneficially.It will provide a new perspective for gene functional research.Fisher exact test showed that 205 genes getting loss of function mutation were under positive selection in Peking man compared with Africa based on 1000 Genomes Project.This result was validated in additional 100 Peking man.GO cluster analysis of these genes discovered 14 significant enrichment clusters.It was speculated that these genes silencing in olfactory receptor,structural constituent of muscle,lipid metabolism increased the fitness of Peking man.The gene silencing of olfactory receptor reduced the cell energy consumption of unnecessary gene expression,lowered the risk of harmful mutations.The gene silencing of lipid metabolism inhibited the activity of glycerin and cholesterol metabolism,possible lowered the risk of obesity and cardiovascular disease in Peking man.Correspondingly,Peking man possible have lower risk of hypertension influenced by the gene silencing of structural constituent of muscle.These selected genes will be important for deeper gene functional research between phenotype and genotype.Complementary,comparative genetic polymorphism analysis discovered a selective sweep on chr17,which indicated a divergent event after ancestors moved out of Africa,the Peking man were under purify selection and the European were under positive selection.These genes under selection were involved in human brain development and associated with multiple neurodegenerative diseases.The result indicated an important divergent event in human brain development after ancestors moved out of Africa.In summary,our research would provide a new perspective and foundation for the deep research between gene function and phenotype.