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High-resolution inference of genetic relationships among Jewish populations.
European Journal of Human Genetics ( IF 5.2 ) Pub Date : 2020-01-09 , DOI: 10.1038/s41431-019-0542-y
Naama M Kopelman 1 , Lewi Stone 2, 3 , Dena G Hernandez 4 , Dov Gefel 5 , Andrew B Singleton 4 , Evelyne Heyer 6 , Marcus W Feldman 7 , Jossi Hillel 8 , Noah A Rosenberg 7
Affiliation  

Recent studies have used genome-wide single-nucleotide polymorphisms (SNPs) to investigate relationships among various Jewish populations and their non-Jewish historical neighbors, often focusing on small subsets of populations from a limited geographic range or relatively small samples within populations. Here, building on the significant progress that has emerged from genomic SNP studies in the placement of Jewish populations in relation to non-Jewish populations, we focus on population structure among Jewish populations. In particular, we examine Jewish population-genetic structure in samples that span much of the historical range of Jewish populations in Europe, the Middle East, North Africa, and South Asia. Combining 429 newly genotyped samples from 29 Jewish and 3 non-Jewish populations with previously reported genotypes on Jewish and non-Jewish populations, we investigate variation in 2789 individuals from 114 populations at 486,592 genome-wide autosomal SNPs. Using multidimensional scaling analysis, unsupervised model-based clustering, and population trees, we find that, genetically, most Jewish samples fall into four major clusters that largely represent four culturally defined groupings, namely the Ashkenazi, Mizrahi, North African, and Sephardi subdivisions of the Jewish population. We detect high-resolution population structure, including separation of the Ashkenazi and Sephardi groups and distinctions among populations within the Mizrahi and North African groups. Our results refine knowledge of Jewish population-genetic structure and contribute to a growing understanding of the distinctive genetic ancestry evident in closely related but historically separate Jewish communities.

中文翻译:

犹太人群之间遗传关系的高分辨率推断。

最近的研究已使用全基因组范围的单核苷酸多态性(SNP)来研究各种犹太人口与其非犹太历史邻居之间的关系,通常侧重于有限地理范围内的一小部分人口或该人口中相对较小的样本。在此,基于基因组SNP研究在犹太人口相对于非犹太人口的安置方面取得的重大进展,我们关注犹太人口中的人口结构。特别是,我们在样本中检查了犹太人口的遗传结构,这些结构跨越了欧洲,中东,北非和南亚的犹太人口的大部分历史范围。将来自29个犹太人和3个非犹太人群体的429个新基因型样本与先前报道的犹太人和非犹太人基因型相结合,我们调查了486592个全基因组常染色体SNPs中114个群体的2789个个体的变异。使用多维尺度分析,无监督的基于模型的聚类和种群树,我们发现,从基因上讲,大多数犹太样本都分为四个主要的类,主要代表了四个文化定义的分组,分别是Ashkenazi,Mizrahi,North African和Sephardi子分类。犹太人口。我们检测高分辨率的人口结构,包括Ashkenazi和Sephardi群体的分离以及Mizrahi和北非群体内的人口之间的区别。
更新日期:2020-01-09
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