Data from: Deep sequencing of a candidate region harboring the SOX9 gene for the canine XX disorder of sex development

dc.contributor.affiliationPoznan University of Medical Sciences - Nowacka-Woszuk, Joanna
dc.contributor.affiliationPoznan University of Medical Sciences - Szczerbal, Izabela
dc.contributor.affiliationUniversity of Helsinki - Pausch, Hubert
dc.contributor.affiliationUniversity of Helsinki - Hundi, Sruthi
dc.contributor.affiliationUniversity of Helsinki - Hytönen, Marjo K.
dc.contributor.affiliationPoznan University of Medical Sciences - Grzemski, Adrian
dc.contributor.affiliationUniversity of Life Sciences - Flisikowski, Krzysztof
dc.contributor.affiliationUniversity of Helsinki - Lohi, Hannes
dc.contributor.affiliationPoznan University of Medical Sciences - Switonski, Marek
dc.contributor.affiliationPoznan University of Medical Sciences - Szydlowski, Maciej
dc.contributor.authorNowacka-Woszuk, Joanna
dc.contributor.authorSzczerbal, Izabela
dc.contributor.authorPausch, Hubert
dc.contributor.authorHundi, Sruthi
dc.contributor.authorHytönen, Marjo K.
dc.contributor.authorGrzemski, Adrian
dc.contributor.authorFlisikowski, Krzysztof
dc.contributor.authorLohi, Hannes
dc.contributor.authorSwitonski, Marek
dc.contributor.authorSzydlowski, Maciej
dc.coverage.spatialPoland
dc.date.accessioned2025-03-24T15:15:06Z
dc.date.issued2017-11-28
dc.date.issued2017-11-28
dc.descriptionA disorder of sex development (DSD) in dogs with female sex chromosomes (78, XX), a lack of the SRY gene and the presence of testes or ovotestes is commonly diagnosed in numerous breeds. The molecular background of DSD is not fully recognized but has been linked to the copy number variation in the region harboring the SOX9 gene. We applied a genome-wide association study and targeted next-generation sequencing techniques to compare DSD and normal female dogs. The genome-wide association study did not indicate a significant chromosome region. Targeted next-generation sequencing of a 1.5-Mb region on canine chromosome 9 harboring the SOX9 gene revealed two putatively DSD-associated copy number variations 355 kb upstream and 691 kb downstream of SOX9, four blocks of low polymorphism and two blocks of an elevated heterozygosity. An initial next-generation sequencing analysis showed an association with two SNPs, but validation in larger cohorts did not confirm this result. We identified a large homologous fragment (over 243.8 kb), named hfMAGI2, located upstream of SOX9, that overlaps a known copy number variation region. It shows a high sequence similarity with the 5′ flanking region of the MAGI2 gene located on canine chromosome 18 that encodes a protein involved in ovary formation during early embryonic development. Our study showed that the identified copy number variation region located upstream of the SOX9 gene contains potential regulatory sequences (long non-coding RNA and hfMAGI2) and led to the assumption that a multiplication of this element may alter expression of the SOX9 gene, triggering the DSD phenotype.
dc.identifierhttps://doi.org/10.5061/dryad.65th7
dc.identifier.urihttps://hydatakatalogi-test-24.it.helsinki.fi/handle/123456789/9529
dc.rightsOpen
dc.rights.licensecc-zero
dc.subjectRevSex
dc.subjectDSD
dc.subjectCanis familiaris
dc.subjectMAGI2
dc.subjectlincRNA
dc.subjectCNV
dc.subjectintersexuality
dc.subjectSOX9
dc.titleData from: Deep sequencing of a candidate region harboring the SOX9 gene for the canine XX disorder of sex development
dc.typedataset
dc.typedataset
Zenodo


: