{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,20]],"date-time":"2026-08-20T05:24:35Z","timestamp":1787203475147,"version":"build-2736575974"},"reference-count":16,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2026,8,10]],"date-time":"2026-08-10T00:00:00Z","timestamp":1786320000000},"content-version":"vor","delay-in-days":9,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,8,1]],"date-time":"2026-08-01T00:00:00Z","timestamp":1785542400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/100007456","name":"Canine Research Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007456","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Animal Genetics"],"published-print":{"date-parts":[[2026,8]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Primary ciliary dyskinesia (PCD) is a clinical syndrome that in dogs primarily manifests as chronic respiratory disease associated with cilial malfunction. The current study employs whole\u2010genome sequencing and a candidate gene approach to uncover the genetic basis of PCD in three Cocker Spaniel siblings following diagnosis of their respiratory cilia by scanning electron microscopy and high\u2010speed video microscopy. Absence of the disorder in the parents suggested autosomal recessive inheritance. A 29\u2009bp frameshift insertion in the eleventh exon of the candidate gene sperm\u2010associated antigen 1 (\n                    <jats:italic>SPAG1<\/jats:italic>\n                    ) [NC_049234.1:g.2213788_2213789insGGCGGCGGCAAGCGGCCGGAGAGGGGCGC] was identified as likely causative for PCD in this family. The 29\u2009bp frameshift variant was unobserved in a public variant call file including 1987 dogs from the Dog10K resource however an in\u2010frame insertion was sometimes observed at the same locus. A Cocker Spaniel with similar symptoms from a different family tested negative for the identified variant suggesting that there are multiple causes for the condition in Cocker Spaniels.\n                  <\/jats:p>","DOI":"10.1002\/age.70183","type":"journal-article","created":{"date-parts":[[2026,8,11]],"date-time":"2026-08-11T00:05:12Z","timestamp":1786406712000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A Novel Frameshift Variant in\n                    <i>SPAG1<\/i>\n                    Likely Causes Primary Ciliary Dyskinesia in Cocker Spaniels in Australia"],"prefix":"10.1002","volume":"57","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9362-6525","authenticated-orcid":false,"given":"S. E.","family":"Mead","sequence":"first","affiliation":[{"name":"Faculty of Science, Sydney School of Veterinary Science The University of Sydney  Sydney New South Wales Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L. E.","family":"Hambrook","sequence":"additional","affiliation":[{"name":"Advanced Vet Care  Kensington Victoria Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1177-375X","authenticated-orcid":false,"given":"R.","family":"Suryadinata","sequence":"additional","affiliation":[{"name":"Victorian Diagnostic Service for PCD, Department of Respiratory &amp; Sleep Medicine The Royal Children's Hospital Melbourne  Parkville Victoria Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6129-9075","authenticated-orcid":false,"given":"P.","family":"Robinson","sequence":"additional","affiliation":[{"name":"Victorian Diagnostic Service for PCD, Department of Respiratory &amp; Sleep Medicine The Royal Children's Hospital Melbourne  Parkville Victoria Australia"},{"name":"Department of Paediatrics The University of Melbourne  Parkville Victoria Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3413-4771","authenticated-orcid":false,"given":"C. M.","family":"Wade","sequence":"additional","affiliation":[{"name":"Faculty of Science, School of Life and Environmental Sciences Camperdown The University of Sydney  Sydney New South Wales Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,8,10]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gku1205"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1008378"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/avj.12418"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/age.13306"},{"issue":"12","key":"e_1_2_8_6_1","first-page":"865","article-title":"Chronic Rhinosinusitis, Bronchitis and Situs Inversus in Two English Cocker Spaniel Litter Mates: Primary Ciliary Dyskinesia?","volume":"39","author":"Haller M.","year":"1994","journal-title":"Kleintierpraxis"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/jvim.16100"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.4142\/jvs.23029"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.07.025"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btp324"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btp352"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.107524.110"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13059-023-03023-7"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.726"},{"key":"e_1_2_8_15_1","volume-title":"Online Mendelian Inheritance in Animals (OMIA)","author":"Nicholas F.","year":"1995"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1748-5827.2001.tb02471.x"},{"issue":"1","key":"e_1_2_8_17_1","first-page":"111","article-title":"A Novel Canine Reference Genome Resolves Genomic Architecture and Uncovers Transcript Complexity","volume":"4","author":"Wang C.","year":"2021","journal-title":"Communications Biology"}],"container-title":["Animal Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/age.70183","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/age.70183","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/age.70183","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,20]],"date-time":"2026-08-20T04:48:52Z","timestamp":1787201332000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/age.70183"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,8]]},"references-count":16,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2026,8]]}},"alternative-id":["10.1002\/age.70183"],"URL":"https:\/\/doi.org\/10.1002\/age.70183","archive":["Portico"],"relation":{},"ISSN":["0268-9146","1365-2052"],"issn-type":[{"value":"0268-9146","type":"print"},{"value":"1365-2052","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,8]]},"assertion":[{"value":"2026-05-27","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-08-04","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-08-10","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e70183"}}