Association of missense variants in GDF9 with litter size in Entlebucher Mountain dogs

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dc.contributor.authorTorrecilha, R. B.P. [UNESP]
dc.contributor.authorMilanesi, M. [UNESP]
dc.contributor.authorGallana, M.
dc.contributor.authorFalbo, A. K.
dc.contributor.authorReichler, I. M.
dc.contributor.authorHug, P.
dc.contributor.authorJagannathan, V.
dc.contributor.authorTrigo, B. B. [UNESP]
dc.contributor.authorPaulan, S. C. [UNESP]
dc.contributor.authorBruno, D. B. [UNESP]
dc.contributor.authorGarcia, S. D. [UNESP]
dc.contributor.authorScaramele, N. F. [UNESP]
dc.contributor.authorLopes, F. L. [UNESP]
dc.contributor.authorDolf, G.
dc.contributor.authorLeeb, T.
dc.contributor.authorSölkner, J.
dc.contributor.authorGarcia, J. F. [UNESP]
dc.contributor.authorPieńkowska-Schelling, A.
dc.contributor.authorSchelling, C.
dc.contributor.authorUtsunomiya, Y. T. [UNESP]
dc.contributor.institutionUniversidade Estadual Paulista (Unesp)
dc.contributor.institutionInternational Atomic Energy Agency Collaborating Centre on Animal Genomics and Bioinformatics
dc.contributor.institutionVetsuisse-Faculty University of Zurich
dc.contributor.institutionVetsuisse-Faculty University of Bern
dc.contributor.institutionBOKU - University of Natural Resource and Live Sciences
dc.date.accessioned2020-12-12T01:07:41Z
dc.date.available2020-12-12T01:07:41Z
dc.date.issued2020-02-01
dc.description.abstractIn the past two decades, average litter size (ALS) in Entlebucher Mountain dogs decreased by approximately 0.8 puppies. We conducted a GWAS for ALS using the single-step methodology to take advantage of 1632 pedigree records, 892 phenotypes and 372 genotypes (173 662 markers) for which only 12% of the dogs had both phenotypes and genotypes available. Our analysis revealed associations towards the growth differentiation factor 9 gene (GDF9), which is known to regulate oocyte maturation. The trait heritability was estimated at 43.1%, from which approximately 15% was accountable by the GDF9 locus alone. Therefore, markers flanking GDF9 explained approximately 6.5% of the variance in ALS. Analysis of WGSs revealed two missense substitutions in GDF9, one of which (g.11:21147009G>A) affected a highly conserved nucleotide in vertebrates. The derived allele A was validated in 111 dogs and shown to be associated with decreased ALS (−0.75 ± 0.22 puppies per litter). The variant was further predicted to cause a proline to serine substitution. The affected residue was immediately followed by a six-residue deletion that is fixed in the canine species but absent in non-canids. We further confirmed that the deletion is prevalent in the Canidae family by sequencing three species of wild canids. Since canids uniquely ovulate oocytes at the prophase stage of the first meiotic division, requiring maturation in the oviduct, we conjecture that the amino acid substitution and the six-residue deletion of GDF9 may serve as a model for insights into the dynamics of oocyte maturation in canids.en
dc.description.affiliationDepartment of Preventive Veterinary Medicine and Animal Reproduction School of Agriculture and Veterinarian Sciences São Paulo State University (Unesp), Via de acesso Prof. Paulo Donato Castellane s/n
dc.description.affiliationInternational Atomic Energy Agency Collaborating Centre on Animal Genomics and Bioinformatics, Clóvis Pestana, 793
dc.description.affiliationDepartment of Support Production and Animal Health School of Veterinary Medicine São Paulo State University (Unesp), Clóvis Pestana, 793
dc.description.affiliationClinic of Reproductive Medicine Vetsuisse-Faculty University of Zurich, Eschikon 27
dc.description.affiliationClinic of Reproductive Medicine Vetsuisse-Faculty University of Zurich, Winterthurerstr. 260
dc.description.affiliationInstitute of Genetics Vetsuisse-Faculty University of Bern, Bremgartenstrasse 109A
dc.description.affiliationDepartment of Clinics Surgery and Animal Reproduction School of Veterinary Medicine São Paulo State University (Unesp), Clóvis Pestana, 793
dc.description.affiliationDivision of Livestook Sciences Department of Sustainable Agriculture System BOKU - University of Natural Resource and Live Sciences, Gregor-Mendel-Straße 33
dc.description.affiliationUnespDepartment of Preventive Veterinary Medicine and Animal Reproduction School of Agriculture and Veterinarian Sciences São Paulo State University (Unesp), Via de acesso Prof. Paulo Donato Castellane s/n
dc.description.affiliationUnespDepartment of Support Production and Animal Health School of Veterinary Medicine São Paulo State University (Unesp), Clóvis Pestana, 793
dc.description.affiliationUnespDepartment of Clinics Surgery and Animal Reproduction School of Veterinary Medicine São Paulo State University (Unesp), Clóvis Pestana, 793
dc.description.sponsorshipCoordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)
dc.description.sponsorshipFundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
dc.description.sponsorshipIdFAPESP: 2016/05787-7
dc.description.sponsorshipIdFAPESP: 2017/08373-1
dc.format.extent78-86
dc.identifierhttp://dx.doi.org/10.1111/age.12882
dc.identifier.citationAnimal Genetics, v. 51, n. 1, p. 78-86, 2020.
dc.identifier.doi10.1111/age.12882
dc.identifier.issn1365-2052
dc.identifier.issn0268-9146
dc.identifier.scopus2-s2.0-85076148017
dc.identifier.urihttp://hdl.handle.net/11449/198250
dc.language.isoeng
dc.relation.ispartofAnimal Genetics
dc.sourceScopus
dc.subjectCanis lupus familiaris
dc.subjectmultiple ovulation
dc.subjectnumber of offspring
dc.subjectsingle nucleotide polymorphism
dc.subjectsingle-step genomic best linear unbiased prediction
dc.titleAssociation of missense variants in GDF9 with litter size in Entlebucher Mountain dogsen
dc.typeArtigo

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