Maternal Genetic Diversity And Genetic Characteristics Of Sherpa People In

Human mitochondria DNA (mtDNA) has become one of the most popular markers in population genetics and molecular anthropology for its special properties of small genome, high coverage of copies,high rates of mutation, lack of recombinztion and maternal interitance.. This paper researches for maternal inheritance structure and ethnic phylogeny of five main populations in Tibet from generation to generation via mtDNA genetic diversity, including Dingri Tibetan, Lhoba, Moinba, Deng and Sherpa.As a high-altitude immense plateau surrounded by towering mountain range, Tibetan plateau served as an important region in the studies of human origin and evolution. However, there are still controversies among the origin and migration routes of five important populations in Tibet from generation to generation.In this study, we analyse363mitochondrial complete sequence information from the five groups in Tibet Plateau. Our findings certify that maternal inheritance component of Tibet roots in the north of East Asia. More over, we found multiple origin of Tibet. Generally, Sherpa mtDNA haplogroup constitution was close to Tibetan populations; The genetic relationships among Lhoba、Moinba and Tibetan are near more than others;Mitochondria are the cell energy plant and responsible for the90%of the total energy of metabolism in human boby. The electron transport chain, whose subunits are partially encoded by mtDNA,generates most energy in theform of oxidative phosphrylation, which is also the major form of energy production in mitochondria. In this study,we found three lineage expansions in Sherpa two of which (C4a3b1and A4e3a) were Sherpa-specific. Non-synonymous mutations harbored in C4a3b1(G3745A) and A4e3a (T4216C) are both ND1mutants (A147T and Y304H respectively). Secondary structure predictions showed that G3745A were structurally closing to other pathogenic mutants while T4216C itself was reported as the primary mutation for LHON. Thus, we propose that these mutations had certain effect on Complex I function and might be important in the high altitude adaptation for Sherpa people.