Published October 31, 2025 | Version v1
Journal article

Dynamic human admixture histories over the past ~1300 years at the northern Himalayan frontier

  • 1. University of Chicago
  • 2. Birbal Sahni Institute of Palaeosciences
  • 3. Seoul National University
  • 4. Rock Art and Historical Society of Spiti
  • 5. Shoolini University
  • 6. Chaudhary Charan Singh Haryana Agricultural University
  • 7. University of Copenhagen
  • 8. Hemwati Nandan Bahuguna Garhwal University
  • 9. Archaeological Survey of India
  • 10. Himachal State Museum
  • 11. University of Jammu
  • 12. Deccan College Post Graduate and Research Institute
  • 13. Harvard University
  • 14. University of California

Description

Archaeological and paleogenomic evidence from the Tibetan Plateau and high-altitude Central Himalayas suggest biocultural connections with each other and with lowland East, Central, and South Asia. However, genetic histories at the northern frontier of the Indian Himalayas, which is geographically more proximal to Central and lowland South Asia, remain underexplored. We analyzed genome-wide data from 7 ancient (~2300 to 100 years old) and 10 present-day individuals from the northern Indian Himalayas and one ~3370-year-old individual from the Central Himalayas in Nepal. Ancient and present-day individuals from the northern Himalayas predominantly have Tibetan-related genetic ancestry, likely the source of high-altitude adaptive variants in these individuals, with substantial Steppe-related genetic ancestry that is observed in all individuals dating between ~1300 years and present day. In addition, some present-day individuals have lowland South Asian admixture. Our analyses reveal a dynamic interplay between genetic admixture and continuity in the northern Himalayas.

Data availability

Raw data (fastq files) and alignments (bam files) for the ancient individuals sequenced in this study are available through the Sequence Read Archive (SRA) BioProject accession number PRJNA1250143. In compliance with the informed consent associated with the present-day individuals who participated in the study, raw data (fastq files) and alignments (bam files) are available for demographic analyses through the European Genome-phenome Archive (EGA) accession number EGAS50000001342, under data access agreement with the corresponding authors M.R. (mraghavan@uchicago.edu) and N.R. (nirajrai@bsip.res.in) and an independent (nonauthor) contact, K. Thangaraj (thangs@ccmb.res.in). All data needed to evaluate the conclusions in the paper are present in the paper and/or the Supplementary Materials. The remaining datasets listed in the "Data compilation" section that were not generated in this study can be accessed through public data repositories or data access agreements, as noted in the respective publications.

Additional details

Identifiers

DOI
10.1126/sciadv.adu9625
Other
oai:uchicago.tind.io:16435

Funding

National Institutes of Health
R35GM143094
National Institutes of Health
R01HL1195077-08
European Molecular Biology Organization
EMBO-STF-8028
University of Chicago
Villum Fonden
VIL53099
European Research Council
101078151
Birbal Sahni Institute of Palaeosciences

UChicago Information

Division(s)
Biological Sciences Division
Department(s)
Genetics, Genomics, and Systems Biology, Human Genetics