Decoding a highly mixed Kazakh genome

TY - JOUR

T1 - Decoding a highly mixed Kazakh genome

AU - Seidualy, Madina

AU - Blazyte, Asta

AU - Jeon, Sungwon

AU - Bhak, Youngjune

AU - Jeon, Yeonsu

AU - Kim, Jungeun

AU - Eriksson, Jon Anders

AU - Bolser, Dan

AU - Yoon, Changhan

AU - Manica, Andrea

AU - Lee, Semin

AU - Bhak, Jong

PY - 2020/5/1

Y1 - 2020/5/1

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=85079774664&partnerID=8YFLogxK

U2 - 10.1007/s00439-020-02132-8

DO - 10.1007/s00439-020-02132-8

M3 - Article

SN - 0340-6717

VL - 139

SP - 557

EP - 568

JO - Human Genetics

JF - Human Genetics

IS - 5

ER -