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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.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Our results showed that the PPD in the sampled pigs were not related to previously reported variants. A strong association was identified at\n                      <jats:italic>ABCC4<\/jats:italic>\n                      and it encodes a transmembrane protein involved in ciliogenesis. We found that the affected and normal individuals were highly differentiated at\n                      <jats:italic>ABCC4<\/jats:italic>\n                      , and all the PPD individuals shared long haplotype stretches as compared with the unaffected individuals. A highly differentiated missense mutation (I85T) in\n                      <jats:italic>ABCC4<\/jats:italic>\n                      was observed at a residue from a transmembrane domain highly conserved among a variety of organisms.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      This study reports\n                      <jats:italic>ABCC4<\/jats:italic>\n                      as a new candidate gene and identifies a missense mutation for PPD in pigs. Our results illustrate a putative role of ciliogenesis process in PPD, coinciding with an earlier observation of ciliogenesis abnormality resulting in pseudo-thumb development in pandas. These results expand our knowledge on the genetic variations underlying PPD in animals.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/s12864-020-6690-1","type":"journal-article","created":{"date-parts":[[2020,3,30]],"date-time":"2020-03-30T10:02:49Z","timestamp":1585562569000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Whole genome resequencing reveals an association of ABCC4 variants with preaxial polydactyly in pigs"],"prefix":"10.1186","volume":"21","author":[{"given":"Cheng","family":"Ma","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saber","family":"Khederzadeh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adeniyi C.","family":"Adeola","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xu-Man","family":"Han","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hai-Bing","family":"Xie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5401-1114","authenticated-orcid":false,"given":"Ya-Ping","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2020,3,30]]},"reference":[{"key":"6690_CR1","unstructured":"Faust KC, Kimbrough T, Oakes JE, Edmunds JO, Faust DC. 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This study was approved by the Animal Care and Ethics Committee of Kunming Institute of Zoology, Chinese Academy of Sciences. The care and treatment of the pigs comply with the guidelines of animal use protocols approved by the Animal Care and Ethics Committee of Kunming Institute of Zoology, Chinese Academy of Science, China (Approval ID: SYDW-2015012).","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Not applicable.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no competing interests.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"268"}}