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Lack of causative mutation in the AMH and AMHR2 genes in a cat (38,XY) with persistent Mullerian duct syndrome (PMDS)

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cris.virtual.author-orcid0000-0002-1041-3576
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cris.virtual.author-orcid0000-0002-6576-8972
cris.virtual.author-orcid0000-0001-5046-7416
cris.virtual.author-orcid0009-0003-2227-5558
cris.virtual.author-orcid0000-0003-2539-9508
cris.virtual.author-orcid0000-0002-4238-0414
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cris.virtualsource.author-orcidb1f9951f-b018-4795-8cff-c7188dd69448
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cris.virtualsource.author-orcidf9afb1ae-f16d-4b00-9b01-bceecb2fb187
cris.virtualsource.author-orcid8cc943c4-fa09-421d-9e2b-84b33ec18db9
cris.virtualsource.author-orcida86f4302-59d1-4d3b-8143-36b53a65f2a1
cris.virtualsource.author-orcid5b5c83e3-837f-42d1-855b-f39952dd433b
cris.virtualsource.author-orcid30dfea4c-e71f-4891-8e23-aafe00ca70e0
dc.abstract.enA 1-year-old 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-Mullerian 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-linked genes (SRY and ZFY). Although the level of AMH was low, two normal copies of the AMH gene were found using droplet digital PCR (ddPCR). Analysis of the coding sequences of two candidate genes (AMH and AMHR2) for persistent Mullerian duct syndrome (PMDS) in the affected cat and in control male cats (n = 24) 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 AMH, 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 AMHR2. We conclude that the DNA variants identified in AMH and AMHR2 are not responsible for PMDS in the affected cat.
dc.affiliationWydział Medycyny Weterynaryjnej i Nauk o Zwierzętach
dc.affiliation.instituteKatedra Genetyki i Podstaw Hodowli Zwierząt​​
dc.affiliation.instituteKatedra Nauk Przedklinicznych i Chorób Zakaźnych
dc.affiliation.instituteKatedra Chorób Wewnętrznych i Diagnostyki
dc.article.numbere14635
dc.contributor.authorRozynek, Jedrzej
dc.contributor.authorNowacka-Woszuk, Joanna
dc.contributor.authorStachowiak, Monika
dc.contributor.authorSowińska, Natalia
dc.contributor.authorŁukomska, Anna
dc.contributor.authorGruss, Michał
dc.contributor.authorŚwitoński, Marek
dc.contributor.authorSzczerbal, Izabela
dc.date.accessioned2024-08-14T08:25:27Z
dc.date.available2024-08-14T08:25:27Z
dc.date.issued2024
dc.description.abstract<jats:title>Abstract</jats:title><jats:p>A 1‐year‐old 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‐Mullerian 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‐linked 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> = 24) 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>
dc.description.bibliographyil., bibiogr.
dc.description.financepublication_nocost
dc.description.financecost0,00
dc.description.if1,6
dc.description.number6
dc.description.points100
dc.description.reviewreview
dc.description.volume59
dc.identifier.doi10.1111/rda.14635
dc.identifier.eissn1439-0531
dc.identifier.issn0936-6768
dc.identifier.urihttps://sciencerep.up.poznan.pl/handle/item/1645
dc.identifier.weblinkhttps://onlinelibrary.wiley.com/doi/full/10.1111/rda.14635
dc.languageen
dc.pbn.affiliationanimal science and fisheries
dc.pbn.affiliationveterinary science
dc.relation.ispartofReproduction in Domestic Animals
dc.rightsClosedAccess
dc.sciencecloudsend
dc.subject.enAMH
dc.subject.enAMHR2
dc.subject.encat
dc.subject.encryptorchidism
dc.subject.enMullerian duct derivatives
dc.subject.enpersistent Mullerian duct syndrome
dc.titleLack of causative mutation in the AMH and AMHR2 genes in a cat (38,XY) with persistent Mullerian duct syndrome (PMDS)
dc.typeJournalArticle
dspace.entity.typePublication
oaire.citation.issue6
oaire.citation.volume59
project.funder.nameb.d.