Department of Medical Genetics, Institute of Medical Biology, Chinese Academy of Medical Sciences, Kunming, 650118, China.
Key Laboratory of Computational Biology, Shanghai Institute of Nutrition and Health, University of Chinese Academy of Sciences, Chinese Academy of Sciences, Shanghai, 200031, China.
BMC Biol. 2022 Jul 21;20(1):166. doi: 10.1186/s12915-022-01367-3.
Yunnan is located in Southwest China and consists of great cultural, linguistic, and genetic diversity. However, the genomic diversity of ethnic minorities in Yunnan is largely under-investigated. To gain insights into population history and local adaptation of Yunnan minorities, we analyzed 242 whole-exome sequencing data with high coverage (~ 100-150 ×) of Yunnan minorities representing Achang, Jingpo, Dai, and Deang, who were linguistically assumed to be derived from three ancient lineages (the tri-genealogy hypothesis), i.e., Di-Qiang, Bai-Yue, and Bai-Pu.
Yunnan minorities show considerable genetic differences. Di-Qiang populations likely migrated from the Tibetan area about 6700 years ago. Genetic divergence between Bai-Yue and Di-Qiang was estimated to be 7000 years, and that between Bai-Yue and Bai-Pu was estimated to be 5500 years. Bai-Pu is relatively isolated, but gene flow from surrounding Di-Qiang and Bai-Yue populations was also found. Furthermore, we identified genetic variants that are differentiated within Yunnan minorities possibly due to the living circumstances and habits. Notably, we found that adaptive variants related to malaria and glucose metabolism suggest the adaptation to thalassemia and G6PD deficiency resulting from malaria resistance in the Dai population.
We provided genetic evidence of the tri-genealogy hypothesis as well as new insights into the genetic history and local adaptation of the Yunnan minorities.
云南位于中国西南部，拥有丰富的文化、语言和遗传多样性。然而，云南少数民族的基因组多样性在很大程度上尚未得到充分研究。为了深入了解云南少数民族的人口历史和本地适应，我们对代表阿昌族、景颇族、傣族和德昂族的 242 名具有高覆盖率（~100-150×）的全外显子组测序数据进行了分析，这些少数民族在语言上被认为源自三个古老的谱系（三联谱系假说），即氐羌、百越和百濮。
云南少数民族表现出相当大的遗传差异。氐羌人群可能在大约 6700 年前从西藏地区迁徙而来。百越和氐羌之间的遗传分化估计为 7000 年，百越和百濮之间的遗传分化估计为 5500 年。百濮相对孤立，但也发现了来自周围氐羌和百越人群的基因流。此外，我们鉴定了可能由于生活环境和习惯导致的云南少数民族内部分化的遗传变异。值得注意的是，我们发现与疟疾和葡萄糖代谢相关的适应性变异表明，傣族人群对疟疾的抗性导致了对地中海贫血和 G6PD 缺乏症的适应。
我们提供了三联谱系假说的遗传证据，以及对云南少数民族遗传历史和本地适应的新见解。
