Figure 4. Details of the FGF-7 locus.

(A) The distribution of −log₁₀(P value) from the Fisher’s exact test for all 329 SNPs and the frequency of the 23 significant SNPs (major allele in high-altitude sheep) in high-altitude populations (red) and in other populations (black). The 23 significant SNPs (P value < 0.001) are indicated in red, while the non-significant ones in black. The ensemble gene model of FGF-7 gene, with the exons colored in red and the intron/intergenic regions are colored in grey, were shown together with the constrained elements for 23 amniota vertebrates Pecan (black bar). (B) Sequence alignment of the constrained element containing the interesting upstream SNP among 18 vertebrates. The SNP position among all 18 vertebrates is shaded in red. “–” indicates the same base with the sequence of high-land sheep. (C) Allele frequency of the upstream mutation in FGF-7 of the four Nepalese sheep breeds. (D) EMSA with nuclear extracts from human alveolar epithelial cell line A549 are showed for the candidate SNP. Allele-specific gel shifts are indicated by arrows. Cold probes at 100-fold excess were used to verify specific DNA-protein interactions.