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. 2015 Apr 13;11(4):e1005122. doi: 10.1371/journal.pgen.1005122

Fig 3. Genes and segregating variants within the region of homozygosity shared by HWSD-affected ponies.

Fig 3

(3A) Scaled schematic representation of SERPINB gene family situated between 79.77Mb and 80.34Mb on equine chromosome 8. Arrows show the relative positions of the SERPINB 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 SERPINB3/4 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 SERPINB11 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”.