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XX/XY Chimerism in Internal Genitalia of a Virilized Heifer

cris.virtual.author-orcid0000-0002-4238-0414
cris.virtual.author-orcid0000-0002-1041-3576
cris.virtual.author-orcid0000-0003-3485-1359
cris.virtual.author-orcid0000-0001-5046-7416
cris.virtual.author-orcid0000-0003-1542-7413
cris.virtual.author-orcid#PLACEHOLDER_PARENT_METADATA_VALUE#
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cris.virtual.author-orcid0000-0003-2539-9508
cris.virtualsource.author-orcid30dfea4c-e71f-4891-8e23-aafe00ca70e0
cris.virtualsource.author-orcidb1f9951f-b018-4795-8cff-c7188dd69448
cris.virtualsource.author-orcidbc097627-d51d-4472-8ae6-8740c8dadfdf
cris.virtualsource.author-orcid8cc943c4-fa09-421d-9e2b-84b33ec18db9
cris.virtualsource.author-orcidbed3840b-ab35-45f1-8283-8bc44b52933a
cris.virtualsource.author-orcid#PLACEHOLDER_PARENT_METADATA_VALUE#
cris.virtualsource.author-orcid#PLACEHOLDER_PARENT_METADATA_VALUE#
cris.virtualsource.author-orcid5b5c83e3-837f-42d1-855b-f39952dd433b
dc.abstract.enFive DSD heifers underwent genetic analysis in the present study. We cytogenetically analyzed in vitro cultured leukocytes and searched for SRY, AMELX/AMELY and ZFX/ZFY genes in leukocytes and hair follicles, finding that four of the studied heifers were freemartins (XX/XY leukocyte chimerism). The fifth case had an underdeveloped vulva localized ventrally and cranially to the mammary gland, a normal female sex chromosome complement (60,XX) in the leukocytes, and a lack of Y-chromosome-derived genes in the leukocytes and hair follicles. Postmortem anatomical examination of this heifer revealed the presence of normal ovaries with follicles, uterus, and oviducts, but molecular detection of the SRY, ZFX, ZFY, AMELX, and AMELY genes in these organs indicated the presence of a cell line carrying the Y chromosome. Further analysis of twelve microsatellite markers revealed the presence of additional variants at six loci in DNA samples derived from the reproductive organs; XX/XY chimerism was thus suspected in these samples. On the basis of the detection of AMELY (Y-linked) versus AMELX (X-linked) and SOX9 (autosomal) versus AMELY genes by droplet digital PCR (ddPCR), the Y/X and Y/autosome ratios were evaluated; they indicated the presence of XX and XY cell lines in the reproductive tissues. Our study showed that XX/XY chimerism can be present in the internal reproductive organs of the virilized heifers with a normal female set of sex chromosomes (60,XX) and a lack of Y-chromosome-derived genes in the leukocytes. The etiology of this phenomenon remains unknown.
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.contributor.authorSzczerbal, Izabela
dc.contributor.authorNowacka-Woszuk, Joanna
dc.contributor.authorStachowiak, Monika
dc.contributor.authorŁukomska, Anna
dc.contributor.authorKonieczny, Kacper
dc.contributor.authorTarnogrodzka, Natalia
dc.contributor.authorWozniak, Jakub
dc.contributor.authorŚwitoński, Marek
dc.date.access2025-12-29
dc.date.accessioned2025-12-29T11:43:49Z
dc.date.available2025-12-29T11:43:49Z
dc.date.copyright2022-10-26
dc.date.issued2022
dc.description.abstract<jats:p>Five DSD heifers underwent genetic analysis in the present study. We cytogenetically analyzed in vitro cultured leukocytes and searched for SRY, AMELX/AMELY and ZFX/ZFY genes in leukocytes and hair follicles, finding that four of the studied heifers were freemartins (XX/XY leukocyte chimerism). The fifth case had an underdeveloped vulva localized ventrally and cranially to the mammary gland, a normal female sex chromosome complement (60,XX) in the leukocytes, and a lack of Y-chromosome-derived genes in the leukocytes and hair follicles. Postmortem anatomical examination of this heifer revealed the presence of normal ovaries with follicles, uterus, and oviducts, but molecular detection of the SRY, ZFX, ZFY,AMELX, and AMELY genes in these organs indicated the presence of a cell line carrying the Y chromosome. Further analysis of twelve microsatellite markers revealed the presence of additional variants at six loci in DNA samples derived from the reproductive organs; XX/XY chimerism was thus suspected in these samples. On the basis of the detection of AMELY (Y-linked) versus AMELX (X-linked) and SOX9 (autosomal) versus AMELY genes by droplet digital PCR (ddPCR), the Y/X and Y/autosome ratios were evaluated; they indicated the presence of XX and XY cell lines in the reproductive tissues. Our study showed that XX/XY chimerism can be present in the internal reproductive organs of the virilized heifers with a normal female set of sex chromosomes (60,XX) and a lack of Y-chromosome-derived genes in the leukocytes. The etiology of this phenomenon remains unknown.</jats:p>
dc.description.accesstimeat_publication
dc.description.bibliographyil., bibliogr.
dc.description.financepublication_nocost
dc.description.financecost0,00
dc.description.if3,0
dc.description.number21
dc.description.points100
dc.description.versionfinal_published
dc.description.volume12
dc.identifier.doi10.3390/ani12212932
dc.identifier.issn2076-2615
dc.identifier.urihttps://sciencerep.up.poznan.pl/handle/item/6554
dc.identifier.weblinkhttps://www.mdpi.com/2076-2615/12/21/2932
dc.languageen
dc.relation.ispartofAnimals
dc.relation.pagesart. 2932
dc.rightsCC-BY
dc.sciencecloudnosend
dc.share.typeOPEN_JOURNAL
dc.subject.encattle
dc.subject.endisorder of sex development
dc.subject.enfreemartinism
dc.subject.enintersexuality
dc.subject.enXX/XY chimerism
dc.subject.enSOX9
dc.subject.enSRY
dc.subject.enAMELX
dc.subject.enAMELY
dc.subject.enZFX
dc.subject.enZFY
dc.titleXX/XY Chimerism in Internal Genitalia of a Virilized Heifer
dc.title.volumeSpecial Issue Cytogenetics of Domestic Animals: Clinical, Molecular and Evolutionary Aspects
dc.typeJournalArticle
dspace.entity.typePublication
oaire.citation.issue21
oaire.citation.volume12