Ladakh lies at a strategic location between the Indus River valley and the Hindu Khush Mountains, which makes the “Land of high passes” one of the major routes of movement. Through the years the region has faced multi-layered cultural movements, genetic assimilation and demographic changes. The initial settlement in the years goes back to the early Neolithic age and still continues despite its harsh, unhospitable and cold climate. Previous studies mostly covered the patrilineal markers of the region and an in-depth study lacked to represent the matrilineal ancestry and possible genetic inflow in the region. Hence, our current study first time generated complete mitogenomes of 108 unrelated individuals from Ladakh belonging to three population groups namely, Changpa (n = 38), Brokpa (n = 32) and Monpa (n = 38). In the in-depth analysis, we found that the mitogenome of the three Ladakhi groups are highly diverse in terms of maternal haplogroup distribution carrying lineages specific to East Asia (M9a), Tibbet (A21) and South Asia (M3, M30, U2). In our analysis we found that Changpa and Monpa probably have shared maternal ancestry compared to Brokpa, which is very distinct and also later suffered possible historical Bottleneck. Bayesian evolutionary and Network analysis indicates more ancient maternal lineage of Changpa and Monpa in terms of M9a haplotypes, but they also share some genetic history with Tibeto-Burman speakers in past. These findings conclusively indicate possible matrilineal genetic inflow in Ladakh from three directions, primarily from East Asia or South East Asia during post-glacial, West Eurasia and also from South Asia.

中文翻译：

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印度拉达克地区现存人群的母系遗传起源和多样性

拉达克位于印度河谷和兴都库什山脉之间的战略位置，这使得“高山隘口之地”成为主要的迁徙路线之一。多年来，该地区面临着多层次的文化运动、基因同化和人口变化。最初的定居可以追溯到新石器时代早期，尽管气候恶劣、不适宜居住和寒冷，但至今仍在继续。以往的研究大多涵盖了该地区的父系标记，缺乏深入的研究来代表该地区的母系血统和可能的遗传流入。因此，我们目前的研究首次生成了来自拉达克的 108 名无关个体的完整线粒体基因组，这些个体属于三个人群，即 Changpa (n = 38)、Brokpa (n = 32) 和 Monpa (n = 38)。在深入分析中，我们发现三个拉达克族群的线粒体基因组在母系单倍群分布方面高度多样化，携带东亚（M9a）、提贝特（A21）和南亚（M3、M30、U2）特有的谱系。在我们的分析中，我们发现昌巴和门巴可能与布罗克巴相比有共同的母系血统，布罗克巴是非常独特的，并且后来也遭受了可能的历史瓶颈。贝叶斯进化和网络分析表明，就 M9a 单倍型而言，昌巴语和门巴语具有更古老的母系谱系，但它们也与过去的藏缅语使用者有一些共同的遗传历史。这些发现最终表明，拉达克的母系遗传可能从三个方向流入，主要来自冰川后时期的东亚或东南亚、欧亚大陆西部，也来自南亚。