Northward genetic penetration across the Himalayas viewed from Sherpa people

Abstract

The Himalayas have been suggested as a natural barrier for human migrations, especially the northward dispersals from the Indian Subcontinent to Tibetan Plateau. However, although the majority of Sherpa have a Tibeto-Burman origin, considerable genetic components from Indian Subcontinent have been observed in Sherpa people living in Tibet. The western Y chromosomal haplogroups R1a1a-M17, J-M304, and F*-M89 comprise almost 17% of Sherpa paternal gene pool. In the maternal side, M5c2, M21d, and U from the west also count up to 8% of Sherpa people. Those lineages with South Asian origin indicate that the Himalayas have been permeable to bidirectional gene flow.

• Himalayas
• mitochondrial DNA
• Sherpa
• Y chromosome

Acknowledgements

Genographic Consortium members: Syama Adhikarla¹, Christina J. Adler², Elena Balanovska³, Oleg Balanovsky³, Doron M. Behar⁴, Jaume Bertranpetit⁵, Andrew C. Clarke⁶, David Comas⁵, Alan Cooper², Clio S. I. Der Sarkissian², Matthew C. Dulik⁷, Christoff J. Erasmus⁸, Jill B. Gaieski⁷, Arun Kumar Ganesh Prasad¹, Wolfgang Haak², Angela Hobbs⁸, Asif Javed⁹, Matthew E. Kaplan¹⁰, Begõna Martìnez-Cruz⁵, Elizabeth A. Matisoo-Smith⁶, MartaMel'e⁵, Nirav C. Merchant¹⁰, R. John Mitchell¹¹, Amanda C. Owings⁷, Laxmi Parida⁹, Ramasamy Pitchappan¹, Daniel E. Platt⁹, Lluis Quintana-Murci¹², Colin Renfrew¹³, Daniela R. Lacerda¹⁴, Ajay K. Royyuru⁹, Fabrìcio R. Santos¹⁴, Theodore G. Schurr⁷, Himla Soodyall⁸, David F. Soria Hernanz¹⁵, Pandikumar Swamikrishnan¹⁶, Chris Tyler-Smith¹⁷, Kavitha Valampuri John¹, Arun Varatharajan Santhakumari¹, Pedro Paulo Vieira¹⁸, Janet S. Ziegle¹⁹ and R. Spencer Wells¹⁵.

Affiliations for participants: ¹Madurai Kamaraj University, Madurai, Tamil Nadu, India. ²University of Adelaide, South Australia, Australia. ³Research Centre for Medical Genetics, Russian Academy of Medical Sciences, Moscow, Russia. ⁴Rambam Medical Center, Haifa, Israel. ⁵Universitat Pompeu Fabra, Barcelona, Spain. ⁶University of Otago, Dunedin, New Zealand. ⁷University of Pennsylvania, Philadelphia, Pennsylvania, United States. ⁸National Health Laboratory Service, Johannesburg, South Africa. ⁹IBM, Yorktown Heights, New York, USA. ¹⁰University of Arizona, Tucson, Arizona, USA. ¹¹La Trobe University, Melbourne, Victoria, Australia. ¹²Institut Pasteur, Paris, France. ¹³University of Cambridge, Cambridge, UK. ¹⁴Universidade Federal de Minas Gerais, Belo Horizonte, Minas Gerais, Brazil. ¹⁵National Geographic Society, Washington, District of Columbia, USA. ¹⁶IBM, Somers, New York, USA. ¹⁷The Wellcome Trust Sanger Institute, Hinxton, UK. ¹⁸Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil. ¹⁹Applied Biosystems, Foster City, California, USA.

Declaration of interest

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the paper. This research was partly supported by grants from the National Science Foundation of China (30760097, 30890034 and 31071098), National Outstanding Youth Science Foundation of China (30625016), the Natural Science Foundation of Shanghai (10ZR1402200), Shanghai Commission of Education Research Innovation Key Project (11zz04), and the Genographic Project. L. Kang is supported by China Postdoctoral Science Foundation (200902208), the Key Project of Chinese Ministry of Education (208138), and National “Eleventh Five-Year” Technology Support Program (2007BA/25800); H. Li is supported by Shanghai professional development funding (2010001); and L. Jin is supported by Shanghai Leading Academic Discipline Project (B111) and the Science and Technology Committee of Shanghai Municipality (09540704300).

Supplementary material available online Supplementary Tables 1–2