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A novel subgroup Q5 of human Y-chromosomal haplogroup Q in India
Abstract
Background: Y-chromosomal haplogroup (Y-HG) Q is suggested to originate in Asia and represent recent founder paternal Native American radiation into the Americas. This group is delineated into Q1, Q2 and Q3 subgroups defined by biallelic markers M120, M25/M143 and M3, respectively. Recently, a novel subgroup Q4 has been identified which is defined by bi-allelic marker M346, representing HG Q (0.41%, 3/728) in Indian population. With scanty details of HG Q in Asia, especially India, it was pertinent to explore the status of the Y-HG Q in Indian population to gather an insight to determine the extent of diversity within this region. Results: We observed 15/630 (2.38%) Y-HG Q individuals in India with an ancestral state at M120, M25, M3 and M346 markers, indicating an absence of already known Q1, Q2, Q3 and Q4 sub-haplogroups. Interestingly, we further observed a novel 4 bp deletion/insertion polymorphism (ss4 bp, rs41352448) at 72,314 position of human arylsulfatase D pseudogene, defining a novel sub-lineage Q5 (in 5/15 individuals, i.e., 33.3 % of the observed Y-HG Q) with distributions independent of the social, cultural, linguistic and geographical affiliations in India. Conclusion: The study adds another sublineage Q5 in the already existing arrangement of Y-HG Q in literature. It was quite interesting to observe an ancestral state Q* and a novel sub-branch Q5, not reported elsewhere, in Indian subcontinent, though in low frequency. A novel subgroup Q4 was identified recently which is also restricted to Indian subcontinent. The most plausible explanation for these observations could be an ancestral migration of individuals bearing ancestral lineage Q* to Indian subcontinent followed by an autochthonous differentiation to Q4 and Q5 sublineages later on. However, other explanations of, either the presence of both the sub haplogroups (Q4 and Q5) in ancestral migrants or recent migrations from central Asia, cannot be ruled out till the distribution and diversity of these subgroups is explored extensively in Central Asia and other regions.
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“Haplogroup Q reaches its highest frequencies in Siberia, especially in Kets (90–94%) and Selkups (66–71%), and is rarely seen in Western, Southern and South-eastern Asia (Wells et al. 2001; Zerjal et al. 2002; Tambets et al. 2004; Sengupta et al. 2006; Sharma et al. 2007; Haber et al. 2011a, b; Dulik et al. 2011; Grugni et al. 2012; Di Cristofaro et al. 2013; Rasmussen et al. 2014).”
From Dispersals of the Siberian Y-chromosome haplogroup Q in Eurasia (2018) · cites this paper as Sharma et al. 2007
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“while Q1a2-M346 appears in Central, Western and Southern Asia, and most parts of Europe (Sengupta et al. 2006; Sharma et al. 2007; Abu-Amero et al. 2009; Bailliet et al. 2009).”
From Dispersals of the Siberian Y-chromosome haplogroup Q in Eurasia (2018) · cites this paper as Sharma et al. 2007
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Research works printed but not linked: 12
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Cited by
Dispersals of the Siberian Y-chromosome haplogroup Q in Eurasia
Huang, Y.-Z., Pamjav, H., Flegontov, P., Stenzl, V., Wen, S.-Q., Tong, X.-Z., Wang, C.-C., Wang, L.-X., Wei, L.-H., Gao, J.-Y., et al. (2018) · Molecular Genetics and Genomics · doi:10.1007/s00438-017-1363-8 · Cited by 34
Metadata
- Authors
- Sharma, S., Rai, E., Bhat, A. K., Bhanwer, A. S., & Bamezai, R. N.
- Venue
- BMC Evolutionary Biology
- Published
- 2007-11-19
- Volume
- 7
- Issue
- 1
- ISSN
- 1471-2148
- PMC
- PMC2258157
- Cited by
- 5
- References
- 0
- Language
- en
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- Sharma, S., Rai, E., Bhat, A. K., Bhanwer, A. S., & Bamezai, R. N. (2007). A novel subgroup Q5 of human Y-chromosomal haplogroup Q in India. BMC Evolutionary Biology. https://doi.org/10.1186/1471-2148-7-232