Data from: A longitudinal cline characterizes the genetic structure of human populations in the Tibetan plateau

Indigenous populations of the Tibetan plateau have attracted much attention for their good performance at extreme high altitude. Most genetic studies of Tibetan adaptations have used genetic variation data at the genome scale, while genetic inferences about their demography and population structure are largely based on uniparental markers. To provide genome-wide information on population structure, we analyzed new and published data of 338 individuals from indigenous populations across the plateau in conjunction with worldwide genetic variation data. We found a clear signal of genetic stratification across the east-west axis within Tibetan samples. Samples from more eastern locations tend to have higher genetic affinity with lowland East Asians, which can be explained by more gene flow from lowland East Asia onto the plateau. Our findings corroborate a previous report of admixture signals in Tibetans, which were based on a subset of the samples analyzed here, but add evidence for isolation by distance in a broader geospatial context.

青藏高原土著人群因其在极端高海拔环境下的优异适应表现而受到学界广泛关注。既往针对藏族高原适应机制的遗传学研究多采用全基因组尺度的遗传变异数据，而有关其人口历史与群体结构的遗传学推断，则主要基于单亲遗传标记开展。为获取该群体全基因组层面的群体结构信息，我们整合分析了338名来自青藏高原全域土著人群的新测序数据与已发表数据，并结合全球范围的遗传变异数据展开研究。研究结果显示，藏族样本群体内存在沿东西向轴分布的清晰遗传分层信号；位于更东部区域的样本与低海拔东亚人群的遗传亲和力更高，该现象可由低海拔东亚人群向青藏高原的更多基因流事件予以合理解释。本研究不仅印证了此前一项基于本次分析样本子集的藏族遗传混合信号相关报道，还在更广泛的地理空间框架下补充了距离隔离效应的相关证据。