{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T08:17:54Z","timestamp":1790669874156,"version":"4.1.0"},"reference-count":45,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2020,2,14]],"date-time":"2020-02-14T00:00:00Z","timestamp":1581638400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Animal Genetics"],"published-print":{"date-parts":[[2020,6]]},"abstract":"<jats:title>Summary<\/jats:title>\n                  <jats:p>\n                    In domestic goats, the polled intersex syndrome (PIS) refers to XX female\u2010to\u2010male sex reversal associated with the absence of horn growth (polled). The causal variant was previously reported as a 11.7\u00a0kb deletion at approximately 129\u00a0Mb on chromosome 1 that affects the transcription of both\n                    <jats:italic>FOXL2<\/jats:italic>\n                    and several long non\u2010coding RNAs. In the meantime the presence of different versions of the PIS deletion was postulated and trials to establish genetic testing with the existing molecular genetic information failed. Therefore, we revisited this variant by long\u2010read whole\u2010genome sequencing of two genetically female (XX) goats, a PIS\u2010affected and a horned control. This revealed the presence of a more complex structural variant consisting of a deletion with a total length of 10\u00a0159\u00a0bp and an inversely inserted approximately 480\u00a0kb\u2010sized duplicated segment of a region located approximately 21\u00a0Mb further downstream on chromosome 1 containing two genes,\n                    <jats:italic>KCNJ15<\/jats:italic>\n                    and\n                    <jats:italic>ERG<\/jats:italic>\n                    . Publicly available short\u2010read whole\u2010genome sequencing data, Sanger sequencing of the breakpoints and FISH using BAC clones corresponding to both involved genome regions confirmed this structural variant. A diagnostic PCR was developed for simultaneous genotyping of carriers for this variant and determination of their genetic sex. We showed that the variant allele was present in all 334 genotyped polled goats of diverse breeds and that all analyzed 15 PIS\u2010affected XX goats were homozygous. Our findings enable for the first time a precise genetic diagnosis for polledness and PIS in goats and add a further genomic feature to the complexity of the PIS phenomenon.\n                  <\/jats:p>","DOI":"10.1111\/age.12918","type":"journal-article","created":{"date-parts":[[2020,2,14]],"date-time":"2020-02-14T20:10:38Z","timestamp":1581711038000},"page":"439-448","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":34,"title":["New genomic features of the polled intersex syndrome variant in goats unraveled by long\u2010read whole\u2010genome sequencing"],"prefix":"10.1111","volume":"51","author":[{"given":"R.","family":"Simon","sequence":"first","affiliation":[{"name":"Institute of Animal Breeding and Genetics Justus Liebig University Giessen 35390 Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9616-2092","authenticated-orcid":false,"given":"H. E. 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