Y-chromosome polymorphisms in the Himalayas

Document Type



Master of Science (MS)



First Advisor's Name

Rene J. Herrera

First Advisor's Committee Title

Committee Chair

Second Advisor's Name

George T. Duncan

Third Advisor's Name

Timothy M. Collins

Date of Defense



In the present study, high resolution Y-chromosome SNP analyses were employed to investigate the genetic origins of three distinct groups from Nepal namely, the general population of Kathmandu, Newar, and Tamang, as well as a collection from Tibet. The results suggest that the Tibetans and Nepalese are descendants of Tibeto-Burman speaking groups originating in Northeast Asia. With the exception of Tamang, both Newar and Kathmandu exhibit considerable similarities to Indian Y haplogroup substructure. These results suggest recent gene flow from the Indian subcontinent, a conclusion that is also supported by the admixture analysis. In contrast, while YAP+ , a genetic signature of Central Asian origin, is completely absent in Nepal, it accounts for more than fifty percent of Tibetan Y-chromosome. Low frequencies of haplogroup R lineages in Tibet reflect limited gene flow from India most likely due to the Himalayan mountain range to the south.



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