{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T02:39:26Z","timestamp":1772159966162,"version":"3.50.1"},"reference-count":24,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2020,7,20]],"date-time":"2020-07-20T00:00:00Z","timestamp":1595203200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"SUISAG"},{"name":"Migros"},{"name":"ETHZ Foundation"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Animal Genetics"],"published-print":{"date-parts":[[2020,10]]},"abstract":"<jats:title>Summary<\/jats:title>\n                  <jats:p>\n                    A recessive form of arthrogryposis multiplex congenita (AMC) was detected 20\u00a0years ago in the Swiss Large White (SLW) pig population. A diagnostic marker test enabled the identification of carrier animals, but the underlying causal mutation remains unknown. To identify the mutation underlying AMC, we collected SNP chip genotyping data for 11 affected piglets and 23 healthy pigs. Association testing using 47\u00a0829 SNPs confirmed that AMC maps to SSC5 (\n                    <jats:italic>P<\/jats:italic>\n                    \u00a0=\u00a09.4\u00a0\u00d7\u00a010\n                    <jats:sup>\u221213<\/jats:sup>\n                    ). Subsequent autozygosity mapping revealed a common 6.06\u00a0Mb region (from 66 757\u00a0970 to 72\u00a0815\u00a0151\u00a0bp) of extended homozygosity in 11 piglets affected by AMC. Using WGS data, we detected a 63\u2010bp insertion compatible with the recessive inheritance of AMC in the second exon of\n                    <jats:italic>KIF21A<\/jats:italic>\n                    gene encoding Kinesin Family Member 21A. The 63\u2010bp insertion is predicted to introduce a premature stop codon in\n                    <jats:italic>KIF21A<\/jats:italic>\n                    gene (p.Val41_Phe42insTer) that truncates 1614 amino acids (~97%) from the protein. We found that this deleterious allele still segregates at a frequency of 0.1% in the SLW pig population. Carrier animals can now be detected unambiguously and excluded from breeding.\n                  <\/jats:p>","DOI":"10.1111\/age.12984","type":"journal-article","created":{"date-parts":[[2020,7,20]],"date-time":"2020-07-20T03:50:09Z","timestamp":1595217009000},"page":"820-823","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["A 63\u2010bp insertion in exon 2 of the porcine\n                    <i>KIF21A<\/i>\n                    gene is associated with arthrogryposis multiplex congenita"],"prefix":"10.1111","volume":"51","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0225-8772","authenticated-orcid":false,"given":"Z.\u2010H.","family":"Fang","sequence":"first","affiliation":[{"name":"Animal Genomics Institute of Agricultural Science D\u2010USYS ETH Z\u00fcrich  Z\u00fcrich 8092 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