Genes and segregating variants within the region of homozygosity shared by HWSD-affected ponies.

<p>(3A) Scaled schematic representation of <i>SERPINB</i> gene family situated between 79.77Mb and 80.34Mb on equine chromosome 8. Arrows show the relative positions of the <i>SERPINB</i> genes in the cluster, and aligned numbers report the percent identity of the horse proteins compared to corresponding human proteins at the amino acid level. Five copies of equine <i>SERPINB3/4</i> are variably closer to human B3 or B4. Carets depict locations of variants that segregate with HWSD: two insertions and one substitution. (3B) Chromatograms of <i>SERPINB11</i> exon 5 sequences where a variant of C to C/C was found in affected Connemara ponies. From left to right: unaffected ponies have a genotype of “C/C”; affected Connemara ponies have a genotype of “CC/CC”; carrier Connemara ponies have a genotype of “C/CC”.