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解析高度混合的哈萨克族基因组。

Decoding a highly mixed Kazakh genome.

机构信息

Korean Genomics Center (KOGIC), Ulsan National Institute of Science and Technology (UNIST), Ulsan, 44919, Republic of Korea.

Department of Biomedical Engineering, School of Life Sciences, Ulsan National Institute of Science and Technology (UNIST), Ulsan, 44919, Republic of Korea.

出版信息

Hum Genet. 2020 May;139(5):557-568. doi: 10.1007/s00439-020-02132-8. Epub 2020 Feb 19.

DOI:10.1007/s00439-020-02132-8
PMID:32076829
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7170836/
Abstract

We provide a Kazakh whole genome sequence (MJS) and analyses with the largest comparative Kazakh genomic data available to date. We found 102,240 novel SNVs and a high level of heterozygosity. ADMIXTURE analysis confirmed a significant proportion of variations in this individual coming from all continents except Africa and Oceania. A principal component analysis showed neighboring Kalmyk, Uzbek, and Kyrgyz populations to have the strongest resemblance to the MJS genome which reflects fairly recent Kazakh history. MJS's mitochondrial haplogroup, J1c2, probably represents an early European and Near Eastern influence to Central Asia. This was also supported by the heterozygous SNPs associated with European phenotypic features and strikingly similar Kazakh ancestral composition inferred by ADMIXTURE. Admixture (f3) analysis showed that MJS's genomic signature is best described as a cross between the Neolithic East Asian (Devil's Gate1) and the Bronze Age European (Halberstadt_LBA1) components rather than a contemporary admixture.

摘要

我们提供了一份哈萨克全基因组序列（MJS），并分析了迄今为止可用的最大规模的比较哈萨克基因组数据。我们发现了 102240 个新的单核苷酸多态性（SNVs），并且杂合度很高。ADMIXTURE 分析证实，该个体的许多变异来自除非洲和大洋洲以外的所有大陆。主成分分析显示，邻近的卡尔梅克、乌兹别克和吉尔吉斯人群与 MJS 基因组最为相似，这反映了哈萨克斯坦相当近期的历史。MJS 的线粒体单倍群 J1c2，可能代表了早期欧洲和近东对中亚的影响。这也得到了与欧洲表型特征相关的杂合 SNP 的支持，以及 ADMIXTURE 推断的惊人相似的哈萨克祖先组成。混合（f3）分析表明，MJS 的基因组特征最好被描述为新石器时代东亚（魔鬼之门 1）和青铜时代欧洲（哈尔伯施塔特-LBA1）成分的杂交，而不是当代的混合。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9dbc/7170836/f449dde446f2/439_2020_2132_Fig4_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9dbc/7170836/6c0307095ced/439_2020_2132_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9dbc/7170836/b809a60cfb98/439_2020_2132_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9dbc/7170836/3a966de1848b/439_2020_2132_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9dbc/7170836/f449dde446f2/439_2020_2132_Fig4_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9dbc/7170836/6c0307095ced/439_2020_2132_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9dbc/7170836/b809a60cfb98/439_2020_2132_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9dbc/7170836/3a966de1848b/439_2020_2132_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9dbc/7170836/f449dde446f2/439_2020_2132_Fig4_HTML.jpg

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