Whole genome resequencing reveals an association of ABCC4 variants with preaxial polydactyly in pigs.

ABSTRACT:

Background

Polydactyly is one of the most common congenital limb dysplasia in many animal species. Although preaxial polydactyly (PPD) has been comprehensively studied in humans as a common abnormality, the genetic variations in other animal species have not been fully understood. Herein, we focused on the pig, as an even-toed ungulate mammal model with its unique advantages in medical and genetic researches, two PPD families consisting of four affected and 20 normal individuals were sequenced.

Results

Our results showed that the PPD in the sampled pigs were not related to previously reported variants. A strong association was identified at ABCC4 and it encodes a transmembrane protein involved in ciliogenesis. We found that the affected and normal individuals were highly dif

SUBMITTER: Ma C 

PROVIDER: S-EPMC7106734 | biostudies-literature | 2020 Mar

REPOSITORIES: biostudies-literature