International Journal of Legal Medicine

, Volume 125, Issue 3, pp 367–375 | Cite as

Y-STR diversity in the Himalayas

  • Tenzin Gayden
  • Shilpa Chennakrishnaiah
  • Joel La Salvia
  • Sacha Jimenez
  • Maria Regueiro
  • Trisha Maloney
  • Patrice J. Persad
  • Areej Bukhari
  • Annabel Perez
  • Oliver Stojkovic
  • Rene J. Herrera
Original Article

Abstract

Linguistic and ethnic diversity throughout the Himalayas suggests that this mountain range played an important role in shaping the genetic landscapes of the region. Previous Y-chromosome work revealed that the Himalayas acted as a biased bidirectional barrier to gene flow across the cordillera. In the present study, 17 Y-chromosomal short tandem repeat (Y-STR) loci included in the AmpFlSTR® Yfiler kit were analyzed in 344 unrelated males from three Nepalese populations (Tamang, Newar, and Kathmandu) and a general collection from Tibet. The latter displays the highest haplotype diversity (0.9990) followed by Kathmandu (0.9977), Newar (0.9570), and Tamang (0.9545). The overall haplotype diversity for the Himalayan populations at 17 Y-STR loci was 0.9973, and the corresponding values for the extended (11 loci) and minimal (nine loci) haplotypes were 0.9955 and 0.9942, respectively. No Y-STR profiles are shared across the four Himalayan collections at the 17-, 11-, and nine-locus resolutions considered, indicating a lack of recent gene flow among them. Phylogenetic analyses support our previous findings that Kathmandu, and to some extent Newar, received significant genetic influence from India while Tamang and Tibet exhibit limited or no gene flow from the subcontinent. A median-joining network of haplogroup O3a3c-M134 based on 15 Y-STR loci from our four Himalayan populations suggests either a male founder effect in Tamang, possibly from Tibet, or a recent bottleneck following their arrival south of the Himalayas from Tibet leading to their highly reduced Y single-nucleotide polymorphism and Y-STR diversity. The genetic uniqueness of the four Himalayan populations examined in this study merits the creation of separate databases for individual identification, parentage analysis, and population genetic studies.

Keywords

Himalayas Nepal Tibet Y-STR 

Notes

Acknowledgments

The authors gratefully acknowledge Sheyla Mirabal and Kristian J. Herrera for their constructive criticism of the manuscript.

Supplementary material

414_2010_485_MOESM1_ESM.xls (104 kb)
Supplementary Table 1 Y-STR data of the four Himalayan populations studied. (XLS 104 kb)
414_2010_485_MOESM2_ESM.doc (58 kb)
Supplementary Table 2 Allele frequencies of the 17 Y-STR loci studied for Tamang, Newar, Kathmandu, and Tibet populations. (DOC 58 kb)
414_2010_485_MOESM3_ESM.doc (71 kb)
Supplementary Table 3 Allele frequencies of the 17 Y-STR loci studied for Tamang, Newar, Kathmandu, and Tibet populations. (DOC 71 kb)
414_2010_485_MOESM4_ESM.doc (78 kb)
Supplementary Table 4 Allele frequencies of the 17 Y-STR loci studied for Tamang, Newar, Kathmandu, and Tibet populations. (DOC 77 kb)
414_2010_485_MOESM5_ESM.doc (102 kb)
Supplementary Table 5 Allele frequencies of the 17 Y-STR loci studied for Tamang, Newar, Kathmandu, and Tibet populations. (DOC 102 kb)

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Copyright information

© Springer-Verlag 2010

Authors and Affiliations

  • Tenzin Gayden
    • 1
    • 2
  • Shilpa Chennakrishnaiah
    • 2
    • 3
  • Joel La Salvia
    • 2
    • 3
  • Sacha Jimenez
    • 2
    • 3
  • Maria Regueiro
    • 2
  • Trisha Maloney
    • 1
    • 2
  • Patrice J. Persad
    • 1
    • 2
  • Areej Bukhari
    • 1
    • 2
  • Annabel Perez
    • 1
    • 2
  • Oliver Stojkovic
    • 4
  • Rene J. Herrera
    • 1
    • 2
  1. 1.Department of Biological SciencesFlorida International UniversityMiamiUSA
  2. 2.Department of Molecular and Human Genetics, College of MedicineFlorida International UniversityMiamiUSA
  3. 3.Department of Chemistry and BiochemistryFlorida International UniversityMiamiUSA
  4. 4.Institute of Forensic Medicine, Faculty of MedicineUniversity of BelgradeBelgradeSerbia

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