Dispersals of the Siberian Y-chromosome haplogroup Q in Eurasia

Huang, Yun-Zhi; Pamjav, Horolma; Flegontov, Pavel; Stenzl, Vlastimil; Wen, Shaoqing; Tong, Xin-Zhu; Wang, Chuan‐Chao; Wang, Ling-Xiang; Wei, Lan‐Hai; Gao, Jingyi; Li, Jin; Li, Hui

doi:10.1007/s00438-017-1363-8

Cited by 29 publications

(21 citation statements)

References 84 publications

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“…Both tools indicated that this individual belonged to the y-Haplogroup Q1a2b2 (Q-L933). The Q haplogroup was found to have originated in Central Asia and Southern Siberia, subsequently migrating toward Eurasia, and arriving in the Arabian Peninsula 35–37 .…”

Section: Resultsmentioning

confidence: 99%

“…However, a study of 471 individuals with subclades of the Q haplogroup by Huang et al . (2018) concluded that the Q haplogroup originated from Central Asia and Southern Siberia and dispersed to the Amerind and subsequently to whole Eurasia and part of Africa 37 . The Q haplogroup was found to have arrived in the Arab Gulf region, across Iran, from central Southern and Southeast Asia and were found to be abundant in the UAE, Iran and Pakistan 36 .…”

Section: Discussionmentioning

confidence: 99%

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Introducing the first whole genomes of nationals from the United Arab Emirates

Alsafar

Al-Ali

Elbait

et al. 2019

Sci Rep

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Whole Genome Sequencing (WGS) provides an in depth description of genome variation. In the era of large-scale population genome projects, the assembly of ethnic-specific genomes combined with mapping human reference genomes of underrepresented populations has improved the understanding of human diversity and disease associations. In this study, for the first time, whole genome sequences of two nationals of the United Arab Emirates (UAE) at >27X coverage are reported. The two Emirati individuals were predominantly of Central/South Asian ancestry. An in-house customized pipeline using BWA, Picard followed by the GATK tools to map the raw data from whole genome sequences of both individuals was used. A total of 3,994,521 variants (3,350,574 Single Nucleotide Polymorphisms (SNPs) and 643,947 indels) were identified for the first individual, the UAE S001 sample. A similar number of variants, 4,031,580 (3,373,501 SNPs and 658,079 indels), were identified for UAE S002. Variants that are associated with diabetes, hypertension, increased cholesterol levels, and obesity were also identified in these individuals. These Whole Genome Sequences has provided a starting point for constructing a UAE reference panel which will lead to improvements in the delivery of precision medicine, quality of life for affected individuals and a reduction in healthcare costs. The information compiled will likely lead to the identification of target genes that could potentially lead to the development of novel therapeutic modalities.

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Section: Resultsmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Introducing the first whole genomes of nationals from the United Arab Emirates

Alsafar

Al-Ali

Elbait

et al. 2019

Sci Rep

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“…TMRCA calculated for R1a individuals from different regions of India was comparable to TMRCA of R1a individuals of GJ populations. Haplogroup Q is believed to have originated in Central Asia and southern Siberia region around 15-25 kya 24,25 , followed by its spread elsewhere in the world. The TMRCA of 11 kya for haplogroup Q individuals in the Ladakh region point to a possible migration from the region of origin to Ladakh.…”

Section: Discussionmentioning

confidence: 99%

The genetic affinities of Gujjar and Ladakhi populations of India

Singh

Sarkar

Kumar

et al. 2020

Sci Rep

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The Union Territories of Jammu and Kashmir (J&K) and Ladakh in North India owing to their unique geographic location offer a wide variety of landscape from plains to high altitudes and is a congruence of many languages and cultural practices. Here, we present the genetic diversity studies of Gujjars from Jammu region of J&K and Ladakhi population based on a battery of autosomal single nucleotide polymorphisms (SNPs) and short tandem repeats (STRs), Y-chromosomal STRs and the control region of the mitochondrial genome. These two populations were observed to be genetically distant to each other as well as to other populations from India. Interestingly, Y-STR analyses showed a closer affinity of Gujjars to other nomadic populations of Pashtuns from Baghlans and Kunduz provinces of Afghanistan and Pashtuns and Sindhis of Pakistan. Gujjars exhibited lesser genetic diversity as compared to Ladakhi population. M30f and M9 were the most abundant mitochondrial haplogroups observed among Gujjars and Ladakhis, respectively. A lower matrilineal to patrilineal diversity was observed for both these populations. The current study presents the first comprehensive analysis of Gujjars and Ladakhis and reveals their unique genetic affiliations with other populations of the world. The Indian subcontinent, which represents about one-sixth of the world population, is a unique conglomerate of multiple cultures, languages and genetic diversity. Together with sub-Himalayan countries and the present day Pakistan, Bangladesh and Sri Lanka, the Indian subcontinent is one of the oldest geographical regions inhabited by modern humans and is a witness to ancient human migratory histories 1. The two northernmost Union Territories of India viz., Jammu and Kashmir (J&K) and Ladakh, owing to their geographical location, are believed to have served as a corridor for ancient human migrations between main land of Indian subcontinent and NorthEast Asia, Eurasia or Africa 2,3. The populations of J&K and Ladakh offer a unique platform for looking into the past anthropological and demographic events which may have shaped the extant human population diversity. However, there is scant information about these populations in phylogenetic studies reported in the literature 4-6. In this study we have attempted to understand the genetic relationship of Gujjars (GJ) from Jammu region of J&K and Ladakhis (LL) with other populations of Indian subcontinent. Gujjars inhabit the northwestern region of the Indian subcontinent spanning across the regions of J&K, Himachal Pradesh (HP), Rajasthan (RJ), Haryana and Gujarat in India, and in the neighboring countries of Pakistan and Afghanistan. In the Union Territory of J&K, Gujjars constitute the third-largest population group and follow a nomadic/semi-nomadic lifestyle and are dependent on rearing of cattle, goats and sheep 7. Few research groups had previously reported on the genetic diversity studies among Gujjars 8-11 , however, considering the unique geographical distribution of Gujjars and their under-representation...

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“…A number of Q1-M242 samples have also been found in ancient remains from South Siberia and adjacent regions [56,57]. Other sub-lineages of Q-M242 are scattered widely in different geographic regions of Eurasia, including Q1-L275, Q1-M25, and Q1-Y2659 [14,35,37,58]. Additionally, the Y-chromosome of a 6000-5100 BCE sample (I4550) from Zvejnieki, Latvia has been identified as Q1-L56 [59].…”

Section: Differentiation and Diffusion In Paleolithic Siberiamentioning

confidence: 99%

“…Furthermore, ancient DNA studies have shown that the~12.6-ky-old Anzick-1 boy belongs to the Q1-FGC47532 sublineage of haplogroup Q1-Z780 [8]. However, few works have mentioned haplogroup Q-L804 [37] and Q-Z780 [14]. Previous studies focused on the internal diversity of paternal gene pool of American aborigines and little is known about the differentiation process of founding paternal lineages of American aborigines from their close relatives in Siberia and more broadly in Eurasia.…”

Section: Introductionmentioning

confidence: 99%

Paternal origin of Paleo-Indians in Siberia: insights from Y-chromosome sequences

et al. 2018

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The expansion of modern humans to the American continent after the Last Glacial Maximum led the way to the present-day distribution of American aborigines. Recent advances in autosomal DNA research and expanded testing of mtDNA lineages has provided a clearer picture of the number and timing of founding lineages. However, both autosomal DNA and mtDNA research have provided unresolved competing theories between the short-term and the long-term models of the Beringian standstill hypothesis. Further, the source of founding paternal lineages of American aborigines and their relationship with ancient Siberia populations remains ambiguous. In this study, we reanalyzed a 7.0 Mbp region of 132 paternal Y-chromosome sequences, including 39 newly reported ones, of male samples from American aborigines and Eurasian populations. Among Eurasian samples, we identified Y-chromosome branches that are most closely related to known American aborigine founding lineages, that is, Q1-L804 links to Q1-M3, Q1-L330 links to Q1-Z780, Q1-M120 links to Q1-B143, and C2-F1756 links to C2-P39. The revised phylogenetic tree and age estimates indicate a narrow timeframe (~15.3-14.3 kya) for the upper time limit of human entry to the American continent. Our analysis suggests that the in situ differentiation of Q-M242 in Central Eurasia and South Siberia region gave rise to numerous sub-lineages older than 15.3 kya, and the founding of Paleo-Indian paternal lineages is part of the great Q1-L53 diffusion throughout the Eurasia after the Last Glacial Maximum. The results of our study will assist in future studies of the history of modern populations in Eurasia and the Americas.

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Dispersals of the Siberian Y-chromosome haplogroup Q in Eurasia

Cited by 29 publications

References 84 publications

Introducing the first whole genomes of nationals from the United Arab Emirates

Introducing the first whole genomes of nationals from the United Arab Emirates

The genetic affinities of Gujjar and Ladakhi populations of India

Paternal origin of Paleo-Indians in Siberia: insights from Y-chromosome sequences

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