State Key Laboratory of Genetic Engineering, Human Phenome Institute, Zhangjiang Fudan International Innovation Center, Center for Evolutionary Biology, Department of Liver Surgery and Transplantation, Liver Cancer Institute, Zhongshan Hospital, Fudan University, Shanghai, 200032, China.
School of Life Science and Technology, ShanghaiTech University, Shanghai, 201210, China.
BMC Biol. 2024 Mar 13;22(1):59. doi: 10.1186/s12915-024-01838-9.
Hmong-Mien (HM) speakers are linguistically related and live primarily in China, but little is known about their ancestral origins or the evolutionary mechanism shaping their genomic diversity. In particular, the lack of whole-genome sequencing data on the Yao population has prevented a full investigation of the origins and evolutionary history of HM speakers. As such, their origins are debatable.
Here, we made a deep sequencing effort of 80 Yao genomes, and our analysis together with 28 East Asian populations and 968 ancient Asian genomes suggested that there is a strong genetic basis for the formation of the HM language family. We estimated that the most recent common ancestor dates to 5800 years ago, while the genetic divergence between the HM and Tai-Kadai speakers was estimated to be 8200 years ago. We proposed that HM speakers originated from the Yangtze River Basin and spread with agricultural civilization. We identified highly differentiated variants between HM and Han Chinese, in particular, a deafness-related missense variant (rs72474224) in the GJB2 gene is in a higher frequency in HM speakers than in others.
Our results indicated complex gene flow and medically relevant variants involved in the HM speakers' evolution history.
苗瑶语族（HM）使用者在语言上相关联，主要居住在中国，但他们的祖先起源或塑造其基因组多样性的进化机制知之甚少。特别是，缺乏瑶族人口的全基因组测序数据，使得对 HM 使用者的起源和进化历史的全面调查受阻。因此，他们的起源是有争议的。
在这里，我们对 80 个瑶族基因组进行了深度测序，我们的分析与 28 个东亚人群和 968 个古代亚洲基因组一起表明，HM 语系的形成有很强的遗传基础。我们估计最近的共同祖先可以追溯到 5800 年前，而 HM 和台-卡岱语使用者之间的遗传分歧则可以追溯到 8200 年前。我们提出，HM 使用者起源于长江流域，并随着农业文明的发展而传播。我们发现了 HM 和汉族之间高度分化的变异，特别是在 GJB2 基因中的一个与耳聋相关的错义变异（rs72474224）在 HM 使用者中的频率高于其他人群。
我们的研究结果表明，HM 使用者的进化历史涉及复杂的基因流动和与医学相关的变异。
