High Altitude Adaptation and Phylogenetic Analysis of Tibetan Horse Based on the Mitochondrial Genome

To investigate genetic mechanisms of high altitude adaptations of animals living in the Tibetan Plateau, three mitochondrial genomes （mt-genome） of Tibetan horses living in Naqu （4,500 m） of Tibetan, Zhongdian （3,300 m） and Deqin （3,100 m） of Yunnan province were sequenced. The structures and lengths of these three mt-genomes are similar to the Cheju horse, which is related to Tibetan horses, but little shorter than the Swedish horse. The pair-wise identity of these three horses on nucleotide level is more than 99.3%. When the gene encoding the mitochondrial protein of Tibetan horses was analyzed, we found that NADH6 has higher non-synonymous mutation rate in all of three Tibetan horses. This implies that NADH6 may play a role in Tibetan horses＇ high altitude adaptation. NADH6 is one of the subunits of the complex I in the respiratory chain. Furthermore, 7 D-loop sequences of Tibetan horse from different areas were sequenced, and the phylogeny tree was constructed to study the origin and evolutionary history of Tibetan horses. The result showed that the genetic diverse was high among Tibetan horses. All of Tibetan horses from Naqu were clustered into one clade, and Tibetan horses from Zhongdian and Deqin were clustered into others clades. The first molecular evidence of Tibetan horses indicated in this study is that Tibetan horse population might have multiple origins.

The earliest evidence for a microblade adaptation in the remote,high altitude regions of the Tibetan Plateau

Microblade assemblages are among the most common prehistoric archaeological materials found on the Tibetan Plateau(TP)and are thought to indicate large scale migration to and settlement of the TP.Few microblade sites,however,have been systematically excavated,especially in the remotest,highest-elevation regions of the TP.The timing of the large-scale arrival,spread,and permanent settlement of people on the TP therefore remains controversial.In this paper,we report on a recently excavated site,Locality 3 of the Nwya Devu Site(ND3),located at 4600 meters above sea level(masl),near the shore of Ngoin Lake,on the interior TP.Our analyses reveal a fairly typical microblade technological orientation and two types of microblade cores:wedge-shaped and semi-conical,which are similar to those found throughout North China.Using Optically Stimulated Luminescence(OSL)dating and AMS^(14)C dating,the age of ND3 ranges from 11 to 10 ka.This date range indicates ND3 is the oldest microblade site yet recorded in the remote,high-elevation regions of the TP and thus provides important information about when and how hunter-gatherers using microblades began exploiting the higher altitudes of the TP.Taken together,studies at ND3 and throughout the TP suggest that a microblade adaptation is associated with the first prolonged human occupation of the plateau and that microblades played a significant role in mediating the risks and facilitating the mobility necessary to permanently inhabit the TP.

Evolutionary significance of selected EDAR variants in Tibetan high-altitude adaptations

Humans have been exposed to many environmental challenges since their evolutionary origins in Africa and subsequent migrations to the rest of the world. A severe environmental challenge to human migrants was hypoxia caused by low barometric oxygen pressure at high altitudes. Several genome-wide scans have elucidated the genetic basis of human high-altitude adaptations.However, the dearth of functional variant information has led to the successful association of only a few candidate genes. In the present study, we employed a candidate gene approach and re-sequenced the EDAR locus in 45 Tibetan individuals to identify mutations involved in hypoxia adaptation. We identified 10 and five quantitative trait-associated mutations for oxygen saturation (SaO_2) and blood platelet count, respectively, at the EDAR locus. Among these, rs10865026 and rs3749110 (associated with SaO_2 and platelet count, respectively) were identified as functional candidate targets. These data demonstrate that EDAR has undergone natural selection in recent human history and indicate an important role of EDAR variants in Tibetan high-altitude adaptations.