The Effect of Gene Expression of Loci Mutation of Human Mitochondrial DNA D-Loop Region

Objective:The gene expression differences between variants of mt235, mt514-515, mt16183, mt16290and mt16319correlated with enduance performance in human mtDNA DLoop region were studied.Methods:The gene sequences contained above loci were synthesized respectively, and then constructed with pGL3-promoter vector.The vectors were transfected into 293Tcells, and the expression activity and mRNA of the reporter gene in the recombinant expression vectors with different alleles were detected by a dual-luciferase reporter assay system and RT-PCR.Results:Higher relative luciferase activities were detected significantly in vectors containing mt235A, mt514-515CA, mt16183Aand mt16319Gthan mt235G, mt514-515Del, mt16183Cand mt16319A (P<0.01) .There was no effect for reporter gene expression in vectors containing mt16290locus.Compared with pGL3-promoter, luciferase gene mRNA level of transfected pGL3-16319Acell was decreased significantly, but no differences between vectors contained mt16290.Conclusion:The variation of mt235A, mt514-515CA and mt16183Acan up-regulate the gene transcription and expression in this study, maybe affecting the gene function, mt16319Acan down-regulate the gene transcription.The gene expression differences maybe are the important regulated factors.