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A novel subgroup Q5 of human Y-chromosomal haplogroup Q in India

A novel subgroup Q5 of human Y-chromosomal haplogroup Q in India

BMC Evolutionary Biology 2007, 7:232 doi:10.1186/1471-2148-7-232

Swarkar Sharma1,2*, Ekta Rai1,2*, Audesh K. Bhat1, Amarjit S. Bhanwer2, Rameshwar N.K. Bamezai1§

1 National Centre of Applied Human Genetics, School of Life Sciences, Jawaharlal Nehru University, New Delhi. India.
2 Department of Human Genetics, Guru Nanak Dev University, Amritsar. 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 4bp deletion / insertion polymorphism (ss4bp, 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.  

Conclusions
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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