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Cytogenetic and molecular insight into the genetic background of disorders of sex development in seventeen cats

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cris.virtualsource.author-orcid30dfea4c-e71f-4891-8e23-aafe00ca70e0
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dc.abstract.enThe genetic background of feline disorders of sex development (DSDs) is poorly understood. We performed comprehensive cytogenetic, molecular, and histological studies of 17 cats with abnormal external genitalia, unusual behavior, or tricolor coats (atypical in males). The DSD phenotype of three cats was associated with sex chromosome abnormalities: X/Y translocation (38,XXSRY+), 37,X/38,XY mosaicism, and XX/XY leukocyte chimerism. The remaining 14 affected cats were classified as XY DSD (SRY-positive). In this group and 38 normal males, we analyzed a priori selected candidate genes (SRY, TAC3, CYP11B1 and LHCGR). Only a previously reported nonpathogenic variant was found in SRY. Moreover, SRY gene copy number was determined, and three variants were observed: 6, 5 (modal), and 4 copies in a single DSD case. The known variants in TAC3 and CYP11B1, responsible for testicular hypoplasia, persistent primary dentition or congenital adrenal hyperplasia, were not found in the study group. Nine novel polymorphisms were identified in the LHCGR gene, one of which, a potentially regulatory indel variant in 5′UTR, was significantly associated (p = 0.0467) with XY DSD. Our report confirmed that abnormalities of sex chromosomes are important causes of feline DSDs. We also showed that the indel variant of LHCGR can be considered a promising marker associated with XY DSD phenotype.
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.contributor.authorStachowiak, Monika
dc.contributor.authorSzczerbal, Izabela
dc.contributor.authorNowacka-Woszuk, Joanna
dc.contributor.authorNowak, Tomasz
dc.contributor.authorSowińska, Natalia
dc.contributor.authorŁukomska, Anna
dc.contributor.authorGogulski, Maciej
dc.contributor.authorBadura, Malgorzata
dc.contributor.authorSklorz-Mencel, Karolina
dc.contributor.authorJagodka, Dariusz
dc.contributor.authorNizanski, Wojciech
dc.contributor.authorDzimira, Stanislaw
dc.contributor.authorŚwitoński, Marek
dc.date.access2026-01-28
dc.date.accessioned2026-02-04T12:03:25Z
dc.date.available2026-02-04T12:03:25Z
dc.date.copyright2022-10-24
dc.date.issued2022
dc.description.abstract<jats:title>Abstract</jats:title><jats:p>The genetic background of feline disorders of sex development (DSDs) is poorly understood. We performed comprehensive cytogenetic, molecular, and histological studies of 17 cats with abnormal external genitalia, unusual behavior, or tricolor coats (atypical in males). The DSD phenotype of three cats was associated with sex chromosome abnormalities: X/Y translocation (38,XX<jats:sup><jats:italic>SRY</jats:italic>+</jats:sup>), 37,X/38,XY mosaicism, and XX/XY leukocyte chimerism. The remaining 14 affected cats were classified as XY DSD (<jats:italic>SRY</jats:italic>-positive). In this group and 38 normal males, we analyzed a priori selected candidate genes (<jats:italic>SRY, TAC3, CYP11B1</jats:italic> and <jats:italic>LHCGR</jats:italic>). Only a previously reported nonpathogenic variant was found in <jats:italic>SRY</jats:italic>. Moreover, <jats:italic>SRY</jats:italic> gene copy number was determined, and three variants were observed: 6, 5 (modal), and 4 copies in a single DSD case. The known variants in <jats:italic>TAC3</jats:italic> and <jats:italic>CYP11B1</jats:italic>, responsible for testicular hypoplasia, persistent primary dentition or congenital adrenal hyperplasia, were not found in the study group. Nine novel polymorphisms were identified in the <jats:italic>LHCGR</jats:italic> gene, one of which, a potentially regulatory indel variant in 5′UTR, was significantly associated (<jats:italic>p</jats:italic> = 0.0467) with XY DSD. Our report confirmed that abnormalities of sex chromosomes are important causes of feline DSDs. We also showed that the indel variant of <jats:italic>LHCGR</jats:italic> can be considered a promising marker associated with XY DSD phenotype.</jats:p>
dc.description.accesstimeat_publication
dc.description.bibliographyil., bibliogr.
dc.description.financepublication_nocost
dc.description.financecost0,00
dc.description.if4,6
dc.description.points140
dc.description.versionfinal_published
dc.description.volume12
dc.identifier.doi10.1038/s41598-022-21718-y
dc.identifier.issn2045-2322
dc.identifier.urihttps://sciencerep.up.poznan.pl/handle/item/7145
dc.identifier.weblinkhttp://www.nature.com/articles/s41598-022-21718-y
dc.languageen
dc.relation.ispartofScientific Reports
dc.relation.pagesart. 17807
dc.rightsCC-BY
dc.sciencecloudnosend
dc.share.typeOPEN_JOURNAL
dc.titleCytogenetic and molecular insight into the genetic background of disorders of sex development in seventeen cats
dc.typeJournalArticle
dspace.entity.typePublication
oaire.citation.issue1
oaire.citation.volume12