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Whole genome sequencing identifies a missense polymorphism in PADI6 associated with testicular/ovotesticular XX disorder of sex development in dogs

cris.virtual.author-orcid0000-0002-1041-3576
cris.virtual.author-orcid0000-0003-3485-1359
cris.virtual.author-orcid0000-0002-4238-0414
cris.virtual.author-orcid0000-0002-5127-5173
cris.virtual.author-orcid0000-0002-1806-0891
cris.virtual.author-orcid0000-0001-9465-3851
cris.virtual.author-orcid0000-0002-1820-5202
cris.virtual.author-orcid0000-0001-5046-7416
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cris.virtual.author-orcid0000-0003-2539-9508
cris.virtual.author-orcid#PLACEHOLDER_PARENT_METADATA_VALUE#
cris.virtual.author-orcid#PLACEHOLDER_PARENT_METADATA_VALUE#
cris.virtualsource.author-orcidb1f9951f-b018-4795-8cff-c7188dd69448
cris.virtualsource.author-orcidbfab313b-be37-4399-8bd2-f4a4648d76af
cris.virtualsource.author-orcid30dfea4c-e71f-4891-8e23-aafe00ca70e0
cris.virtualsource.author-orcid89e157e6-5dac-4b19-bb53-0d4b8eb0a1a9
cris.virtualsource.author-orcid6a2f8857-003b-41ec-9112-0ef6941bfd06
cris.virtualsource.author-orcida96d2343-ee65-450d-8ce2-355a51255d10
cris.virtualsource.author-orcid9fd4d04e-0912-425f-812f-aab2e3debe36
cris.virtualsource.author-orcid8cc943c4-fa09-421d-9e2b-84b33ec18db9
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cris.virtualsource.author-orcid5b5c83e3-837f-42d1-855b-f39952dd433b
cris.virtualsource.author-orcid#PLACEHOLDER_PARENT_METADATA_VALUE#
dc.abstract.enDisorders of sex development (DSDs) are congenital malformations defined as discrepancies between sex chromosomes and phenotypical sex. Testicular or ovotesticular XX DSDs are frequently observed in female dogs, while monogenic XY DSDs are less frequent. Here, we applied whole genome sequencing (WGS) to search for causative mutations in XX DSD females in French Bulldogs (FB) and American Staffordshire Terries (AST) and in XY DSD Yorkshire Terries (YT). The WGS results were validated by Sanger sequencing and ddPCR. It was shown that a missense SNP of the PADI6 gene, is significantly associated with the XX DSD (SRY-negative) phenotype in AST (P = 0.0051) and FB (P = 0.0306). On the contrary, we did not find any associated variant with XY DSD in YTs. Our study suggests that the genetic background of the XX DSD may be more complex and breed-specific.
dc.affiliationWydział Medycyny Weterynaryjnej i Nauk o Zwierzętach
dc.affiliationWydział Rolnictwa, Ogrodnictwa i Bioinżynierii
dc.affiliation.instituteKatedra Genetyki i Podstaw Hodowli Zwierząt​​
dc.affiliation.instituteKatedra Nauk Przedklinicznych i Chorób Zakaźnych
dc.contributor.authorNowacka-Woszuk, Joanna
dc.contributor.authorDragan, Monika Maria
dc.contributor.authorSzczerbal, Izabela
dc.contributor.authorSzydłowski, Maciej
dc.contributor.authorSzabelska-Beręsewicz, Alicja
dc.contributor.authorZyprych-Walczak, Joanna Grażyna
dc.contributor.authorKrzeminska, Paulina
dc.contributor.authorNowak, Tomasz
dc.contributor.authorŁukomska, Anna
dc.contributor.authorLigocka, Zuzanna
dc.contributor.authorBiezynski, Janusz
dc.contributor.authorDzimira, Stanislaw
dc.contributor.authorNizanski, Wojciech
dc.contributor.authorŚwitoński, Marek
dc.date.access2025-11-06
dc.date.accessioned2025-11-06T13:31:26Z
dc.date.available2025-11-06T13:31:26Z
dc.date.copyright2022-05-18
dc.date.issued2022
dc.description.accesstimeat_publication
dc.description.bibliographyil., bibliogr.
dc.description.financepublication_nocost
dc.description.financecost0,00
dc.description.if4,4
dc.description.number4
dc.description.points100
dc.description.versionfinal_published
dc.description.volume114
dc.identifier.doi10.1016/j.ygeno.2022.110389
dc.identifier.eissn1089-8646
dc.identifier.issn0888-7543
dc.identifier.urihttps://sciencerep.up.poznan.pl/handle/item/5786
dc.identifier.weblinkhttps://www.sciencedirect.com/science/article/pii/S0888754322001343?via%3Dihub
dc.languageen
dc.pbn.affiliationbiotechnology
dc.pbn.affiliationagriculture and horticulture
dc.relation.ispartofGenomics
dc.relation.pagesart. 110389
dc.rightsCC-BY
dc.sciencecloudnosend
dc.share.typeOPEN_JOURNAL
dc.subject.enCNV
dc.subject.enDog
dc.subject.enDSD
dc.subject.enIntersexuality
dc.subject.enWGS
dc.subject.enOvotestis
dc.titleWhole genome sequencing identifies a missense polymorphism in PADI6 associated with testicular/ovotesticular XX disorder of sex development in dogs
dc.typeJournalArticle
dspace.entity.typePublication
oaire.citation.issue4
oaire.citation.volume114