Fig. 4
ESR1 and the long leg phenotype in dogs. a Manhattan plots showing statistical significance (−log10 scale) for the 30,000 most associated biallelic variants for each canine autosome, and all variants for the X chromosome (X-axis) for the long-leg phenotype observed in Sighthounds, Great Dane, and Great Pyrenees. We distinguish four peaks: one peak pinpointing ESR1 gene on chromosome 1, one locus on CFA9 without any candidate genes in the interval, and IGF1 (CFA15) and IRS4 (CFAX) previously associated with height variation in dogs. Images to the left are Great Dane (top) and Greyhound (bottom). b UCSC genome browser showing the ESR1 locus in dog (top) and human (bottom). Vertical bars correspond to the most associated variants identified with the 722 genomes (in red), and the 855 dogs genotyped on 170k SNP array (in brown), and horizontal bars represent the homozygous haplotype observed. The bottom panel represents the human orthologous locus with tracks corresponding to the H3K4me1 and H3K27ac chromatin signals annotated by the ENCODE project55. c Expression level of ESR1 in a panel of 20 breeds, showing high expression in the Sighthounds, Irish Wolfhound and Whippet, in comparison to six different breeds with average leg length. Y-axis represents the relative normalized expression. d XP-CLR plot on ESR1 locus comparing Sighthounds (long legs breeds) with normal-sized legs breeds. We detected a significant selection signature located on ESR1 locus (in grey). Horizontal lines represent the empirical top 1% of genomic regions. Source data are provided as a Source Data file
