Y-chromosome mutations on LUN004.

There are longstanding questions about the origins and ancestry of the Picts of early medieval Scotland (ca. 300–900 CE), prompted in part by exotic medieval origin myths, their enigmatic symbols and inscriptions, and the meagre textual evidence. The Picts, first mentioned in the late 3rd century CE resisted the Romans and went on to form a powerful kingdom that ruled over a large territory in northern Britain. In the 9th and 10th centuries Gaelic language, culture and identity became dominant, transforming the Pictish realm into Alba, the precursor to the medieval kingdom of Scotland. To date, no comprehensive analysis of Pictish genomes has been published, and questions about their biological relationships to other cultural groups living in Britain remain unanswered. Here we present two high-quality Pictish genomes (2.4 and 16.5X coverage) from central and northern Scotland dated from the 5th-7th century which we impute and co-analyse with >8,300 previously published ancient and modern genomes. Using allele frequency and haplotype-based approaches, we can firmly place the genomes within the Iron Age gene pool in Britain and demonstrate regional biological affinity. We also demonstrate the presence of population structure within Pictish groups, with Orcadian Picts being genetically distinct from their mainland contemporaries. When investigating Identity-By-Descent (IBD) with present-day genomes, we observe broad affinities between the mainland Pictish genomes and the present-day people living in western Scotland, Wales, Northern Ireland and Northumbria, but less with the rest of England, the Orkney islands and eastern Scotland—where the political centres of Pictland were located. The pre-Viking Age Orcadian Picts evidence a high degree of IBD sharing across modern Scotland, Wales, Northern Ireland, and the Orkney islands, demonstrating substantial genetic continuity in Orkney for the last ~2,000 years. Analysis of mitochondrial DNA diversity at the Pictish cemetery of Lundin Links (n = 7) reveals absence of direct common female ancestors, with implications for broader social organisation. Overall, our study provides novel insights into the genetic affinities and population structure of the Picts and direct relationships between ancient and present-day groups of the UK.学界长期以来对中世纪早期苏格兰（约公元300–900年）皮克特人（Picts）的起源与血统存在诸多疑问，这一疑问部分源于中世纪的异域起源神话、其晦涩难解的符号与铭文，以及稀少的文字史料。皮克特人最早于公元3世纪晚期被文献提及，他们曾抵御罗马军团，随后建立起统治不列颠北部广袤领土的强盛王国。至9至10世纪，盖尔语文化与身份认同占据主导地位，将皮克特人的领地转化为阿尔巴（Alba）——中世纪苏格兰王国的前身。迄今为止，尚无针对皮克特人基因组的系统性分析成果公开发表，学界关于其与不列颠其他文化群体的生物学关联仍存有诸多未解之谜。本研究报道了来自苏格兰中部与北部的两例高质量皮克特人基因组（测序覆盖度分别为2.4X与16.5X），样本年代可追溯至公元5至7世纪；我们对其进行基因型填充，并与超过8300份已发表的古代及现代基因组开展联合分析。通过等位基因频率与基于单倍型的分析方法，我们将这两例基因组明确归入不列颠铁器时代的基因库，并证实了其区域性生物学亲缘关系。我们还证实皮克特人群体内存在群体遗传结构：奥克尼皮克特人与同时代的大陆皮克特人在遗传层面存在显著差异。在借助血缘同源（Identity-By-Descent, IBD）分析现代基因组时，我们观察到大陆皮克特人基因组与现今苏格兰西部、威尔士、北爱尔兰及诺森布里亚（Northumbria）的人群存在广泛的遗传亲缘关系，但与英格兰其他地区、奥克尼群岛及苏格兰东部（皮克特王国的政治中心所在地）的人群亲缘关系较弱。对维京时代前的奥克尼皮克特人的分析显示，其与现代苏格兰、威尔士、北爱尔兰及奥克尼群岛人群存在大量血缘同源片段共享，这表明奥克尼地区在过去约2000年间存在显著的遗传连续性。对伦丁林克斯（Lundin Links）皮克特墓地（样本量n=7）的线粒体DNA（mitochondrial DNA）多样性分析显示，该群体的女性祖先不存在直接共祖关系，这一结果对更广泛的社会组织模式具有启示意义。总体而言，本研究为皮克特人的遗传亲缘关系与群体结构提供了全新见解，并揭示了英国古代与现代人群间的直接关联。