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A clue to the etiology of disorders of sex development from identity‐by‐descent analysis in dogs with cryptic relatedness

cris.lastimport.scopus2025-10-23T06:59:47Z
cris.virtual.author-orcid0000-0002-5127-5173
cris.virtualsource.author-orcid89e157e6-5dac-4b19-bb53-0d4b8eb0a1a9
dc.abstract.enDisorders of sex development (DSDs) are discrepancies between sex chromosomes and phenotypical sex. Quite common forms of DSD in canine populations include testicular and ovotesticular XX DSDs with a normal set of sex chromosomes. The objective of this study was to identify genes and putative harmful variants for canine XX DSDs. I have reanalyzed data from the whole-genome sequencing of 11 XX DSD French Bulldogs and six XX DSD American Staffordshire Terriers. Identity-by-descent analysis revealed cryptic relatedness in affected French Bulldogs. Causative genes were sought in chromosomal segments shared identical-by-descent by close relatives. In French Bulldogs, the reanalysis identified 19 regions of importance with a total length of just 65.9 Mb. Variant filtering within the regions implicated AKAP2, PIWIL1, POLR3A and SH2D4B as genes that may be involved in individual cases of testicular and ovotesticular XX DSD in French Bulldogs and American Staffordshire Terriers.
dc.affiliationWydział Medycyny Weterynaryjnej i Nauk o Zwierzętach
dc.affiliation.instituteKatedra Genetyki i Podstaw Hodowli Zwierząt​​
dc.contributor.authorSzydłowski, Maciej
dc.date.accessioned2025-09-02T09:48:01Z
dc.date.available2025-09-02T09:48:01Z
dc.date.issued2023
dc.description.abstract<jats:title>Abstract</jats:title><jats:p>Disorders of sex development (DSDs) are discrepancies between sex chromosomes and phenotypical sex. Quite common forms of DSD in canine populations include testicular and ovotesticular XX DSDs with a normal set of sex chromosomes. The objective of this study was to identify genes and putative harmful variants for canine XX DSDs. I have reanalyzed data from the whole‐genome sequencing of 11 XX DSD French Bulldogs and six XX DSD American Staffordshire Terriers. Identity‐by‐descent analysis revealed cryptic relatedness in affected French Bulldogs. Causative genes were sought in chromosomal segments shared identical‐by‐descent by close relatives. In French Bulldogs, the reanalysis identified 19 regions of importance with a total length of just 65.9 Mb. Variant filtering within the regions implicated <jats:italic>AKAP2</jats:italic>, <jats:italic>PIWIL1</jats:italic>, <jats:italic>POLR3A</jats:italic> and <jats:italic>SH2D4B</jats:italic> as genes that may be involved in individual cases of testicular and ovotesticular XX DSD in French Bulldogs and American Staffordshire Terriers.</jats:p>
dc.description.bibliographyil., bibliogr.
dc.description.financepublication_nocost
dc.description.financecost0,00
dc.description.if1,8
dc.description.number2
dc.description.points140
dc.description.volume54
dc.identifier.doi10.1111/age.13276
dc.identifier.eissn1365-2052
dc.identifier.issn0268-9146
dc.identifier.urihttps://sciencerep.up.poznan.pl/handle/item/4582
dc.languageen
dc.relation.ispartofAnimal Genetics
dc.relation.pages166-176
dc.rightsClosedAccess
dc.sciencecloudsend
dc.subject.enAmerican Staffordshire Terrier
dc.subject.endisorders of sex development
dc.subject.endog
dc.subject.enFrench Bulldog
dc.subject.enidentical-by-descent segments
dc.subject.enruns of homozygosity
dc.subject.enwhole-genome sequencing
dc.titleA clue to the etiology of disorders of sex development from identity‐by‐descent analysis in dogs with cryptic relatedness
dc.typeJournalArticle
dspace.entity.typePublication
oaire.citation.issue2
oaire.citation.volume54