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Evidence That GYPA (Glycophorin A) Encodes the K Blood Group System in Horses

cris.virtual.author-orcid0000-0003-2214-7284
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cris.virtual.author-orcid0000-0001-6936-2550
cris.virtualsource.author-orcidab9e1490-8607-4f75-9edb-ebb553f1fa3e
cris.virtualsource.author-orcid#PLACEHOLDER_PARENT_METADATA_VALUE#
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cris.virtualsource.author-orcid3e6127c7-bcc8-44c1-b5a5-b41091eef9ee
dc.abstract.enAlthough serological and genetic studies of equine blood group systems have been conducted for many years, the molecular basis of erythrocyte antigens' variability has remained largely unexplored. In this study, we aimed to elucidate the genetic basis of serological variation within equine blood group K. Using mRNA extracted from peripheral blood samples (n = 100) collected from horses with known serological blood types (Ka or K-), we performed a transcriptome-wide association study (TWAS), which revealed a significantly associated region on equine chromosome 2 (ECA2). A detailed analysis of this region identified GYPA (glycophorin A) as the most promising candidate gene. Resequencing its entire coding sequence revealed the presence of a dinucleotide missense variant in exon 3 (ENSECAT00000026370.3:c.145_146delinsAT; p.Asp49Ile), which is predicted to potentially alter the function of the GYPA protein. Genotyping this variant in a large, breed-diverse cohort, which included family-based samples, confirmed perfect cosegregation between the identified GYPA missense substitution and serological K blood group typing results. Our findings demonstrate that blood transcriptome-based approaches, despite certain limitations, can effectively reveal the molecular basis of equine erythrocyte antigen variability.
dc.affiliationWydział Medycyny Weterynaryjnej i Nauk o Zwierzętach
dc.affiliation.instituteKatedra Genetyki i Podstaw Hodowli Zwierząt​​
dc.contributor.authorMaćkowski, Mariusz
dc.contributor.authorKajdasz, Arkadiusz
dc.contributor.authorLaskowska, Kaja
dc.contributor.authorCieślak, Jakub
dc.date.accessioned2026-03-23T07:44:26Z
dc.date.available2026-03-23T07:44:26Z
dc.date.issued2026
dc.description.abstract<jats:title>ABSTRACT</jats:title> <jats:p> Although serological and genetic studies of equine blood group systems have been conducted for many years, the molecular basis of erythrocyte antigens' variability has remained largely unexplored. In this study, we aimed to elucidate the genetic basis of serological variation within equine blood group K. Using mRNA extracted from peripheral blood samples ( <jats:italic>n</jats:italic>  = 100) collected from horses with known serological blood types ( <jats:italic>Ka</jats:italic> or <jats:italic>K‐</jats:italic> ), we performed a transcriptome‐wide association study (TWAS), which revealed a significantly associated region on equine chromosome 2 (ECA2). A detailed analysis of this region identified <jats:italic>GYPA</jats:italic> (glycophorin A) as the most promising candidate gene. Resequencing its entire coding sequence revealed the presence of a dinucleotide missense variant in exon 3 (ENSECAT00000026370.3:c.145_146delinsAT; p.Asp49Ile), which is predicted to potentially alter the function of the GYPA protein. Genotyping this variant in a large, breed‐diverse cohort, which included family‐based samples, confirmed perfect cosegregation between the identified <jats:italic>GYPA</jats:italic> missense substitution and serological K blood group typing results. Our findings demonstrate that blood transcriptome‐based approaches, despite certain limitations, can effectively reveal the molecular basis of equine erythrocyte antigen variability. </jats:p>
dc.description.bibliographyil., bibliogr.
dc.description.financepublication_nocost
dc.description.financecost0,00
dc.description.if2,1
dc.description.number2
dc.description.points140
dc.description.volume57
dc.identifier.doi10.1002/age.70083
dc.identifier.eissn1365-2052
dc.identifier.issn0268-9146
dc.identifier.urihttps://sciencerep.up.poznan.pl/handle/item/7852
dc.languageen
dc.relation.ispartofAnimal Genetics
dc.relation.pagesart. e70083
dc.rightsClosedAccess
dc.sciencecloudnosend
dc.titleEvidence That GYPA (Glycophorin A) Encodes the K Blood Group System in Horses
dc.typeJournalArticle
dspace.entity.typePublication
oaire.citation.issue2
oaire.citation.volume57