{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T12:43:32Z","timestamp":1753879412359,"version":"3.41.2"},"reference-count":15,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2024,6,4]],"date-time":"2024-06-04T00:00:00Z","timestamp":1717459200000},"content-version":"vor","delay-in-days":3,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100020628","name":"Faculty of Veterinary Medicine and Animal Science, Pozna\u0144 University of Life Sciences","doi-asserted-by":"publisher","award":["506.534.05.00"],"award-info":[{"award-number":["506.534.05.00"]}],"id":[{"id":"10.13039\/501100020628","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Reprod Domestic Animals"],"published-print":{"date-parts":[[2024,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A 1\u2010year\u2010old European shorthair male cat with a normally developed penis was subjected to genetic, endocrinological and histological studies due to unilateral cryptorchidism. The blood testosterone level was typical for males, while the level of anti\u2010Mullerian hormone (AMH) was very low. Surgical removal of internal reproductive organs was followed by a histological study, which revealed inactive testicles with neoplastic changes and derivatives of Mullerian ducts. Cytogenetic analysis showed a normal XY sex chromosome complement and molecular analysis confirmed the presence of Y\u2010linked genes (<jats:italic>SRY<\/jats:italic> and <jats:italic>ZFY<\/jats:italic>). Although the level of AMH was low, two normal copies of the <jats:italic>AMH<\/jats:italic> gene were found using droplet digital PCR (ddPCR). Analysis of the coding sequences of two candidate genes (<jats:italic>AMH<\/jats:italic> and <jats:italic>AMHR2<\/jats:italic>) for persistent Mullerian duct syndrome (PMDS) in the affected cat and in control male cats (<jats:italic>n<\/jats:italic>\u2009=\u200924) was performed using the Sanger sequencing method. In the affected cat, homozygosity was found for three novel missense variants in Exon 1 (one SNP) and Exon 5 (two SNPs) of <jats:italic>AMH<\/jats:italic>, but the same homozygous genotypes were also observed in one and two control cats, respectively, whose sex development was not examined. Three known synonymous variants with homozygous status were found in <jats:italic>AMHR2<\/jats:italic>. We conclude that the DNA variants identified in <jats:italic>AMH<\/jats:italic> and <jats:italic>AMHR2<\/jats:italic> are not responsible for PMDS in the affected cat.<\/jats:p>","DOI":"10.1111\/rda.14635","type":"journal-article","created":{"date-parts":[[2024,6,4]],"date-time":"2024-06-04T10:39:23Z","timestamp":1717497563000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Lack of causative mutation in the <scp><i>AMH<\/i><\/scp> and <scp><i>AMHR2<\/i><\/scp> genes in a cat (38,<scp>XY<\/scp>) with persistent Mullerian duct syndrome (<scp>PMDS<\/scp>)"],"prefix":"10.1111","volume":"59","author":[{"given":"Jedrzej","family":"Rozynek","sequence":"first","affiliation":[{"name":"Department of Genetics and Animal Breeding  Poznan Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joanna","family":"Nowacka\u2010Woszuk","sequence":"additional","affiliation":[{"name":"Department of Genetics and Animal Breeding  Poznan Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Monika","family":"Stachowiak","sequence":"additional","affiliation":[{"name":"Department of Genetics and Animal Breeding  Poznan Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Natalia","family":"Sowinska","sequence":"additional","affiliation":[{"name":"Department of Genetics and Animal Breeding  Poznan Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Lukomska","sequence":"additional","affiliation":[{"name":"Department of Preclinical Sciences and Infectious Diseases  Poznan Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michal","family":"Gruss","sequence":"additional","affiliation":[{"name":"Department of Internal Diseases and Diagnostics Poznan University of Life Sciences  Poznan Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marek","family":"Switonski","sequence":"additional","affiliation":[{"name":"Department of Genetics and Animal Breeding  Poznan Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4238-0414","authenticated-orcid":false,"given":"Izabela","family":"Szczerbal","sequence":"additional","affiliation":[{"name":"Department of Genetics and Animal Breeding  Poznan Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,6,4]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.4103\/0974\u20101208.101025"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/jsap.13225"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1159\/000492037"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jcpa.2018.04.004"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.3390\/jcm12093115"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1159\/000332740"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2019.07.006"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1071\/RD17501"},{"issue":"6","key":"e_1_2_8_10_1","first-page":"13029","article-title":"Hormone receptor type 2 antim\u00fcllerian gene role in dogs with persistent M\u00fcllerian ducts syndrome","volume":"22","author":"Pop A. R.","year":"2017","journal-title":"Romanian Biotechnological Letters"},{"issue":"5","key":"e_1_2_8_11_1","first-page":"690","article-title":"Pyometra involving uterus masculinus in a cat","volume":"194","author":"Schulman J.","year":"1989","journal-title":"Journal of the American Veterinary Medical Association"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/rda.13116"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.anireprosci.2020.106353"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.3389\/fvets.2020.00337"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.3389\/fvets.2023.1185621"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.2164\/jandrol.108.005736"}],"container-title":["Reproduction in Domestic Animals"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/rda.14635","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,6,26]],"date-time":"2024-06-26T06:33:49Z","timestamp":1719383629000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/rda.14635"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,6]]},"references-count":15,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2024,6]]}},"alternative-id":["10.1111\/rda.14635"],"URL":"https:\/\/doi.org\/10.1111\/rda.14635","archive":["Portico"],"relation":{},"ISSN":["0936-6768","1439-0531"],"issn-type":[{"type":"print","value":"0936-6768"},{"type":"electronic","value":"1439-0531"}],"subject":[],"published":{"date-parts":[[2024,6]]},"assertion":[{"value":"2024-04-27","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-05-27","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-06-04","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e14635"}}