1. ¹National Centre of Applied Human Genetics, School of Life Sciences, Jawaharlal Nehru University, New Delhi, India
2. ²Department of Human Genetics, Guru Nanak Dev University, Amritsar, India
3. ³Centre for Genomics, School of Studies in Zoology, Jiwaji University, Gwalior, India

Correspondence: Professor RNK Bamezai, National Centre of Applied Human Genetics, School of Life Sciences, Jawaharlal Nehru University, New Delhi 110067, India. E-mail: bamezai@hotmail.com and bamezai@ncahg.org

⁴These authors contributed equally to this work.

Received 17 August 2008; Revised 30 October 2008; Accepted 6 November 2008; Published online 9 January 2009.

Abstract

Many major rival models of the origin of the Hindu caste system co-exist despite extensive studies, each with associated genetic evidences. One of the major factors that has still kept the origin of the Indian caste system obscure is the unresolved question of the origin of Y-haplogroup R1a1^*, at times associated with a male-mediated major genetic influx from Central Asia or Eurasia, which has contributed to the higher castes in India. Y-haplogroup R1a1^* has a widespread distribution and high frequency across Eurasia, Central Asia and the Indian subcontinent, with scanty reports of its ancestral (R^*, R1^* and R1a^*) and derived lineages (R1a1a, R1a1b and R1a1c). To resolve these issues, we screened 621 Y-chromosomes (of Brahmins occupying the upper-most caste position and schedule castes/tribals occupying the lower-most positions) with 55 Y-chromosomal binary markers and seven Y-microsatellite markers and compiled an extensive dataset of 2809 Y-chromosomes (681 Brahmins, and 2128 tribals and schedule castes) for conclusions. A peculiar observation of the highest frequency (up to 72.22%) of Y-haplogroup R1a1^* in Brahmins hinted at its presence as a founder lineage for this caste group. Further, observation of R1a1^* in different tribal population groups, existence of Y-haplogroup R1a^* in ancestors and extended phylogenetic analyses of the pooled dataset of 530 Indians, 224 Pakistanis and 276 Central Asians and Eurasians bearing the R1a1^* haplogroup supported the autochthonous origin of R1a1 lineage in India and a tribal link to Indian Brahmins. However, it is important to discover novel Y-chromosomal binary marker(s) for a higher resolution of R1a1^* and confirm the present conclusions.