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Elevated serum concentration of anti‐Mullerian hormone and its association with SNP variants in the AMH gene in a tortoiseshell tomcat with a disorder of sex development (38,XX; SRY-negative)

cris.virtual.author-orcid0000-0002-1041-3576
cris.virtual.author-orcid0000-0002-4238-0414
cris.virtual.author-orcid0000-0002-1806-0891
cris.virtual.author-orcid0000-0001-9465-3851
cris.virtual.author-orcid0000-0002-1820-5202
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cris.virtual.author-orcid0000-0003-3485-1359
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cris.virtual.author-orcid0000-0003-2539-9508
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cris.virtualsource.author-orcidb1f9951f-b018-4795-8cff-c7188dd69448
cris.virtualsource.author-orcid30dfea4c-e71f-4891-8e23-aafe00ca70e0
cris.virtualsource.author-orcid6a2f8857-003b-41ec-9112-0ef6941bfd06
cris.virtualsource.author-orcida96d2343-ee65-450d-8ce2-355a51255d10
cris.virtualsource.author-orcid9fd4d04e-0912-425f-812f-aab2e3debe36
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cris.virtualsource.author-orcid1180663c-d141-49f2-9790-63a45a151d60
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cris.virtualsource.author-orcid5b5c83e3-837f-42d1-855b-f39952dd433b
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dc.abstract.enTesticular disorders of sex development (DSD) in cats with XX sex chromosomes and the absence of the SRY gene are rare congenital abnormalities. A Maine Coon tomcat with a normal penis, gonads in the scrotum, low serum testosterone concentration, and an elevated level of anti-Müllerian hormone (AMH) was subjected to genetic analyses due to an unusual tortoiseshell coat color for males. Primary studies revealed the presence of XX sex chromosomes, the lack of SRY and the presence of two copies of the candidate SOX9. The DSD tomcat and its parents were analyzed using whole genome sequencing. Candidate SNPs in AMH, ORC1, DOCK8, PRKAR1A, and TMEM186 genes, as well as a known intronic 5-kb deletion in X-linked ARHGAP36 gene, which is responsible for orange coat, were identified. Potentially pathogenic homozygous genotypes were observed in all candidate genes; however, only in AMH and ORC1 were these genotypes rare in a control cohort. Further studies were focused on two SNPs located in the 5′-and 3′-untranslated regions (UTRs) of AMH. It has been experimentally demonstrated that only a short AMH transcript is present in feline testes. In silico analysis revealed that the SNP located in the 3′UTR of AMH occurs within a sequence that partially matches the canonical binding site for human miR-5571-5p. This microRNA is expressed in mammalian testes, which we confirmed in feline testicular tissue. We concluded that SNP in the 3′UTR of AMH is associated with elevated expression of the encoded hormone; however, it is not the cause of the testicular DSD phenotype in the studied Maine Coon tomcat.
dc.affiliationWydział Medycyny Weterynaryjnej i Nauk o Zwierzętach
dc.affiliationWydział Rolnictwa, Ogrodnictwa i Biotechnologii
dc.affiliation.instituteKatedra Genetyki i Podstaw Hodowli Zwierząt​​
dc.affiliation.instituteKatedra Metod Matematycznych i Statystycznych
dc.affiliation.instituteKatedra Chorób Wewnętrznych i Diagnostyki
dc.contributor.authorNowacka-Woszuk, Joanna
dc.contributor.authorSzczerbal, Izabela
dc.contributor.authorSzabelska-Beręsewicz, Alicja
dc.contributor.authorZyprych-Walczak, Joanna Grażyna
dc.contributor.authorParma, P.
dc.contributor.authorRopka‐Molik, K.
dc.contributor.authorJankowska, A.
dc.contributor.authorNowak, Tomasz
dc.contributor.authorOkoniewski, M.
dc.contributor.authorStachowiak, Monika
dc.contributor.authorRogalska-Niżnik, Natalia
dc.contributor.authorŚwitoński, Marek
dc.date.accessioned2025-08-18T12:10:47Z
dc.date.available2025-08-18T12:10:47Z
dc.date.issued2025
dc.description.abstract<jats:title>Abstract</jats:title><jats:p>Testicular disorders of sex development (DSD) in cats with XX sex chromosomes and the absence of the <jats:italic>SRY</jats:italic> gene are rare congenital abnormalities. A Maine Coon tomcat with a normal penis, gonads in the scrotum, low serum testosterone concentration, and an elevated level of anti‐Müllerian hormone (AMH) was subjected to genetic analyses due to an unusual tortoiseshell coat color for males. Primary studies revealed the presence of XX sex chromosomes, the lack of <jats:italic>SRY</jats:italic> and the presence of two copies of the candidate <jats:italic>SOX9</jats:italic>. The DSD tomcat and its parents were analyzed using whole genome sequencing. Candidate SNPs in <jats:italic>AMH</jats:italic>, <jats:italic>ORC1</jats:italic>, <jats:italic>DOCK8</jats:italic>, <jats:italic>PRKAR1A</jats:italic>, and <jats:italic>TMEM186</jats:italic> genes, as well as a known intronic 5‐kb deletion in X‐linked <jats:italic>ARHGAP36</jats:italic> gene, which is responsible for orange coat, were identified. Potentially pathogenic homozygous genotypes were observed in all candidate genes; however, only in <jats:italic>AMH</jats:italic> and <jats:italic>ORC1</jats:italic> were these genotypes rare in a control cohort. Further studies were focused on two SNPs located in the 5′‐and 3′‐untranslated regions (UTRs) of <jats:italic>AMH.</jats:italic> It has been experimentally demonstrated that only a short <jats:italic>AMH</jats:italic> transcript is present in feline testes. In silico analysis revealed that the SNP located in the 3′UTR of <jats:italic>AMH</jats:italic> occurs within a sequence that partially matches the canonical binding site for human <jats:italic>miR‐5571‐5p</jats:italic>. This microRNA is expressed in mammalian testes, which we confirmed in feline testicular tissue. We concluded that SNP in the 3′UTR of <jats:italic>AMH</jats:italic> is associated with elevated expression of the encoded hormone; however, it is not the cause of the testicular DSD phenotype in the studied Maine Coon tomcat.</jats:p>
dc.description.bibliographyil., bibliogr.
dc.description.financepublication_nocost
dc.description.financecost0,00
dc.description.if2,1
dc.description.number4
dc.description.points140
dc.description.volume56
dc.identifier.doi10.1111/age.70029
dc.identifier.eissn0268-9146
dc.identifier.urihttps://sciencerep.up.poznan.pl/handle/item/4263
dc.languageen
dc.relation.ispartofAnimal Genetics
dc.relation.pagese70029
dc.rightsClosedAccess
dc.sciencecloudsend
dc.subject.enAMH
dc.subject.enanti-Mullerian hormone
dc.subject.enARHGAP36
dc.subject.enfeline
dc.subject.enintersexuality
dc.subject.enmiRNA
dc.subject.enSOX9
dc.subject.enWGS
dc.titleElevated serum concentration of anti‐Mullerian hormone and its association with SNP variants in the AMH gene in a tortoiseshell tomcat with a disorder of sex development (38,XX; SRY-negative)
dc.typeJournalArticle
dspace.entity.typePublication
oaire.citation.issue4
oaire.citation.volume56