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Transcript Patterns of Bovine CYP21A2 and Its Pseudogene in Adrenal and Ovarian Tissues

cris.virtual.author-orcid0000-0003-3485-1359
cris.virtual.author-orcid0000-0003-2539-9508
cris.virtual.author-orcid0000-0002-1041-3576
cris.virtual.author-orcid#PLACEHOLDER_PARENT_METADATA_VALUE#
cris.virtualsource.author-orcidbc097627-d51d-4472-8ae6-8740c8dadfdf
cris.virtualsource.author-orcid5b5c83e3-837f-42d1-855b-f39952dd433b
cris.virtualsource.author-orcidb1f9951f-b018-4795-8cff-c7188dd69448
cris.virtualsource.author-orcid#PLACEHOLDER_PARENT_METADATA_VALUE#
dc.abstract.enBackground: The cytochrome P450 family 21 subfamily A member 2 gene (CYP21A2) encodes 21-hydroxylase, a key enzyme in adrenal steroid biosynthesis. Despite its physiological importance, the diversity of CYP21A2 transcript variants and their tissue-specific expression in domestic animals, including cattle, remains largely unexplored. This study aimed to characterize CYP21A2 transcription in adrenal glands and ovaries and assess the potential transcriptional activity of its pseudogene, CYP21A1P. Methods: CYP21A2 transcription was investigated in adrenal and ovarian tissues of 12 healthy cows using semi-quantitative PCR and Sanger sequencing. Real-time PCR was performed to confirm expression levels. Melting curve analysis and electrophoresis were used to validate distinct amplicons corresponding to different transcript variants. Extended amplicons were sequenced to identify transcripts corresponding to reference sequences and potential pseudogene products. Results: A single transcript variant (NM_001013596.1) was consistently detected in adrenal glands, whereas ovaries expressed two variants: NM_001013596.1 and XM_024983378.2. Semi-quantitative analysis showed significantly higher CYP21A2 expression in adrenal glands compared to ovaries (p < 0.01). In ovarian samples, the NM_001013596.1 variant was more abundant than the XM_024983378.2 (p < 0.01). Sanger sequencing revealed two products matching CYP21A2 reference transcripts and an additional, longer product containing sequence motifs specific to the pseudogene CYP21A1P, indicating its transcriptional activity. Conclusions: These results provide the first evidence of tissue-specific expression and differential abundance of CYP21A2 transcript variants in cattle and suggest the transcription of the CYP21A1P pseudogene. The findings reveal the complexity of CYP21A2 expression in steroidogenic tissues and suggest potential regulatory roles for transcript and pseudogene variants in bovine physiology.
dc.affiliationWydział Medycyny Weterynaryjnej i Nauk o Zwierzętach
dc.affiliation.instituteKatedra Genetyki i Podstaw Hodowli Zwierząt​​
dc.contributor.authorWozniak, Jakub
dc.contributor.authorStachowiak, Monika
dc.contributor.authorŚwitoński, Marek
dc.contributor.authorNowacka-Woszuk, Joanna
dc.date.access2025-11-12
dc.date.accessioned2025-11-12T10:30:26Z
dc.date.available2025-11-12T10:30:26Z
dc.date.copyright2025-11-11
dc.date.issued2025
dc.description.abstract<jats:p>Background: The cytochrome P450 family 21 subfamily A member 2 gene (CYP21A2) encodes 21-hydroxylase, a key enzyme in adrenal steroid biosynthesis. Despite its physiological importance, the diversity of CYP21A2 transcript variants and their tissue-specific expression in domestic animals, including cattle, remains largely unexplored. This study aimed to characterize CYP21A2 transcription in adrenal glands and ovaries and assess the potential transcriptional activity of its pseudogene, CYP21A1P. Methods: CYP21A2 transcription was investigated in adrenal and ovarian tissues of 12 healthy cows using semi-quantitative PCR and Sanger sequencing. Real-time PCR was performed to confirm expression levels. Melting curve analysis and electrophoresis were used to validate distinct amplicons corresponding to different transcript variants. Extended amplicons were sequenced to identify transcripts corresponding to reference sequences and potential pseudogene products. Results: A single transcript variant (NM_001013596.1) was consistently detected in adrenal glands, whereas ovaries expressed two variants: NM_001013596.1 and XM_024983378.2. Semi-quantitative analysis showed significantly higher CYP21A2 expression in adrenal glands compared to ovaries (p &lt; 0.01). In ovarian samples, the NM_001013596.1 variant was more abundant than the XM_024983378.2 (p &lt; 0.01). Sanger sequencing revealed two products matching CYP21A2 reference transcripts and an additional, longer product containing sequence motifs specific to the pseudogene CYP21A1P, indicating its transcriptional activity. Conclusions: These results provide the first evidence of tissue-specific expression and differential abundance of CYP21A2 transcript variants in cattle and suggest the transcription of the CYP21A1P pseudogene. The findings reveal the complexity of CYP21A2 expression in steroidogenic tissues and suggest potential regulatory roles for transcript and pseudogene variants in bovine physiology.</jats:p>
dc.description.accesstimeat_publication
dc.description.bibliographyil., bibliogr.
dc.description.financepublication_nocost
dc.description.financecost0,00
dc.description.if2,8
dc.description.number11
dc.description.points100
dc.description.versionfinal_published
dc.description.volume16
dc.identifier.doi10.3390/genes16111374
dc.identifier.issn2073-4425
dc.identifier.urihttps://sciencerep.up.poznan.pl/handle/item/5838
dc.identifier.weblinkhttps://www.mdpi.com/2073-4425/16/11/1374
dc.languageen
dc.relation.ispartofGenes
dc.relation.pagesart. 1374
dc.rightsCC-BY
dc.sciencecloudnosend
dc.share.typeOPEN_JOURNAL
dc.subject.enCYP21A2
dc.subject.enpseudogene CYP21A1P
dc.subject.entranscript variants
dc.subject.encattle
dc.subject.enadrenal gland
dc.subject.enovary
dc.titleTranscript Patterns of Bovine CYP21A2 and Its Pseudogene in Adrenal and Ovarian Tissues
dc.typeJournalArticle
dspace.entity.typePublication
oaire.citation.issue11
oaire.citation.volume16