Two pigs were identified having "extra feet" (preaxial polydactyly) within a purebred population of Yorkshire pigs. Polydactyly is an inherited disorder in many species that may be controlled by either recessive or dominant genes. Experimental matings were conducted using pigs that had produced affected offspring with the result of 12 polydactyl offspring out of 95 piglets. One polydactyl-producing boar was also mated to 4 Duroc sows and 8 distantly related Yorkshire sows to produce 129 unaffected offspring. Together, these results suggest a recessive mode of inheritance, possibly with incomplete penetrance. Candidate genes, LMBR1, EN2, HOXA10-13, GLI3, WNT2, WNT16, and SHH, were identified based on association with similar phenotypes in other species. Homologues for these genes are all found on SSC18. Sequencing and linkage studies showed no evidence for association with HOXA10-13, WNT2, and WNT16. Results for the regions including GLI3, LMBR1, and SHH, however, were inconclusive. A whole genome scan was conducted on DNA samples from 10 affected pigs and 12 close relatives using the Illumina PorcineSNP60 BeadChip and compared with 69 more distantly related animals in the same population. No evidence was found for a major gene causing polydactyly. However, a 25-Mb stretch of homozygosity on SSC8 was identified as fairly unique to the family segregating for this trait. Therefore, this chromosome segment may play a role in development of polydactyly in concert with other genes.
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