Fig. 7
From: Differentiated demographic histories and local adaptations between Sherpas and Tibetans
Example of a putatively functional adaptive variant. A novel missense variant (chr17: 19645417) located in ALDH3A1 was selected as an example. a The derived allele frequency (DAF) of this SNP in SHP and TBN was estimated based on the Target-genotyping panel (Tables 1 and 2). b Median-joining network of ALDH3A1 showing a Sherpa-specific haplogroup. Haplotypes consisted of the missense variant and 30 randomly selected shared variants between SHP and non-SHP residing at the ALDH3A1 region with minor allele frequency (MAF) larger than 5%. The derived allele is specific to SHP in the SHP-specific haplogroup. c Positive selection signals of extended haplotype homozygosity (EHH) and Integrated Haplotype Score (iHS). Analyses in b and c are based on 55 imputed genomes of Zhangmu Sherpas. d Functional consequences of the missense variant