Adaptive introgression in Tibetans spans focal and distributed architectures
- 1Fudan University
Abstract
The Denisovan-derived EPAS1 haplotype is a paradigmatic example of adaptive introgression, but whether archaic ancestry contributed beyond such large-effect loci remains unclear. We analyzed genomes from 1,039 Tibetans, Han Chinese, archaic hominins and ancient Tibetan Plateau individuals. Denisovan-derived adaptive variation was highly localized around EPAS1, whereas Neanderthal-derived variation was distributed across the genome; temporal and elevational patterns reinforced this contrast. Despite individual-level heterogeneity, Neanderthal-introgressed gene repertoires repeatedly converged on immune, metabolic and signal-transduction pathways. A Tibetan-enriched Neanderthal PPARGC1A haplotype was associated with lower fasting glucose and showed concordant support from an independent East Asian type 2 diabetes GWAS. These findings reveal that adaptive introgression can contribute to complex human adaptation through functionally convergent combinations of archaic variants, rather than only through shared large-effect haplotypes.
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BibTeX
@misc{liang2026adaptive,
title = {{Adaptive introgression in Tibetans spans focal and distributed architectures}},
author = {S.-A. Liang and Q. Zhu and X. Gao and Y. Xiao and K. Liu and Z. Xie and L. Deng and X. Ge and B. Su and Q. Fu and Y. Zheng and Y. He and S. Xu and L. Chen},
howpublished = {bioRxiv},
year = {2026},
month = sep,
doi = {10.64898/2026.09.18.752559},
url = {https://www.biorxiv.org/content/10.64898/2026.09.18.752559v1},
note = {CC BY-NC-ND},
}
RIS
TY - UNPB
TI - Adaptive introgression in Tibetans spans focal and distributed architectures
AU - S.-A. Liang
AU - Q. Zhu
AU - X. Gao
AU - Y. Xiao
AU - K. Liu
AU - Z. Xie
AU - L. Deng
AU - X. Ge
AU - B. Su
AU - Q. Fu
AU - Y. Zheng
AU - Y. He
AU - S. Xu
AU - L. Chen
PY - 2026
DA - 2026/09/18
PB - bioRxiv
DO - 10.64898/2026.09.18.752559
UR - https://www.biorxiv.org/content/10.64898/2026.09.18.752559v1
AB - The Denisovan-derived EPAS1 haplotype is a paradigmatic example of adaptive introgression, but whether archaic ancestry contributed beyond such large-effect loci remains unclear. We analyzed genomes from 1,039 Tibetans, Han Chinese, archaic hominins and ancient Tibetan Plateau individuals. Denisovan-derived adaptive variation was highly localized around EPAS1, whereas Neanderthal-derived variation was distributed across the genome; temporal and elevational patterns reinforced this contrast. Despite individual-level heterogeneity, Neanderthal-introgressed gene repertoires repeatedly converged on immune, metabolic and signal-transduction pathways. A Tibetan-enriched Neanderthal PPARGC1A haplotype was associated with lower fasting glucose and showed concordant support from an independent East Asian type 2 diabetes GWAS. These findings reveal that adaptive introgression can contribute to complex human adaptation through functionally convergent combinations of archaic variants, rather than only through shared large-effect haplotypes.
ER -