Fig. 3

Positively selected gene (EPAS1) associated with plateau adaptation in snow leopards. A Functional enrichment results of 552 positively selected genes in the southern lineage. B Functional enrichment results of 267 positively selected genes in the northern lineage. C Two linked missense mutations of EPAS1 among snow leopard, tiger, lion, leopard, jaguar, clouded leopard, and cat. Multi-species sequence alignment of EPAS1 showed that the derived alleles A and C occur only in snow leopards. D Allele frequency map of two EPAS1 missense variants in global snow leopards. The derived allele frequencies of both mutations were positively correlated with the altitude distribution of snow leopards. Specifically, the frequency pattern of two derived alleles (A and C) was Qinghai–Tibet Plateau > Tianshan–Pamir Plateau > Altai–Mongolian Plateau, suggesting that EPAS1 was most likely involved in adaptation to low oxygen in the high-altitude regions