The phylogeography of Y-chromosome haplogroup h1a1a-m82 reveals the likely Indian origin of the European Romani populations

PLoS One. 2012;7(11):e48477. doi: 10.1371/journal.pone.0048477. Epub 2012 Nov 28.

Abstract

Linguistic and genetic studies on Roma populations inhabited in Europe have unequivocally traced these populations to the Indian subcontinent. However, the exact parental population group and time of the out-of-India dispersal have remained disputed. In the absence of archaeological records and with only scanty historical documentation of the Roma, comparative linguistic studies were the first to identify their Indian origin. Recently, molecular studies on the basis of disease-causing mutations and haploid DNA markers (i.e. mtDNA and Y-chromosome) supported the linguistic view. The presence of Indian-specific Y-chromosome haplogroup H1a1a-M82 and mtDNA haplogroups M5a1, M18 and M35b among Roma has corroborated that their South Asian origins and later admixture with Near Eastern and European populations. However, previous studies have left unanswered questions about the exact parental population groups in South Asia. Here we present a detailed phylogeographical study of Y-chromosomal haplogroup H1a1a-M82 in a data set of more than 10,000 global samples to discern a more precise ancestral source of European Romani populations. The phylogeographical patterns and diversity estimates indicate an early origin of this haplogroup in the Indian subcontinent and its further expansion to other regions. Tellingly, the short tandem repeat (STR) based network of H1a1a-M82 lineages displayed the closest connection of Romani haplotypes with the traditional scheduled caste and scheduled tribe population groups of northwestern India.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Asia
  • Chromosomes, Human, Y*
  • DNA, Mitochondrial
  • Ethnicity / genetics*
  • Europe
  • Haplotypes*
  • Humans
  • Microsatellite Repeats*
  • Phylogeny
  • Phylogeography*
  • White People / genetics*

Substances

  • DNA, Mitochondrial

Grants and funding

KT and LS are supported by the Council of Scientific and Industrial Research (CSIR), India. Financial supports to LS and KT from the Department of Biotechnology (DBT), India, and Department of Science and Technology (DST), India, are gratefully acknowledged. LS is also supported by Bhatnagar Fellowship (CSIR) and Bose Fellowship (DST). PAU thanks Carlos D. Bustamante for support. KT and TK acknowledge support from the UK-India Education and Research Initiative (RG-4772). RV, GC and MK thank the European Union European Regional Development Fund through the Centre of Excellence in Genomics to Estonian Biocentre, and University of Tartu. RV was supported by Estonian Basic Research grant SF0270177As08. AKP was supported by the European Social Fund's Doctoral Studies and Internationalisation Programme DoRa. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.