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Mapping PRNP Polymorphisms in Portuguese Serra da Estrela Ovine Populations: Insights into Scrapie Susceptibility and Farm Animal Improvement

dc.contributor.authorRodrigues, Soraia
dc.contributor.authorMoreira, Guilherme
dc.contributor.authorSantos-Silva, Sérgio
dc.contributor.authorGomes-Gonçalves, Sara
dc.contributor.authorAires Pereira, Maria
dc.contributor.authorBaptista, Alexandra
dc.contributor.authorCruz, Rita
dc.contributor.authorEsteves, Fernando
dc.contributor.authorMesquita, João R.
dc.date.accessioned2026-02-27T11:38:58Z
dc.date.available2026-02-27T11:38:58Z
dc.date.issued2025-09-20en_US
dc.date.updated2026-01-31T18:16:27Z
dc.description.abstractScrapie (classical and atypical) susceptibility in sheep is strongly influenced by PRNP gene polymorphisms. In Portugal, limited data exist for native breeds such as Serra da Estrela, despite their relevance to animal conservation and food production. The full coding region of PRNP gene of 92 Serra da Estrela sheep was sequenced and SNP frequencies were analysed. The predicted functional impact of nonsynonymous SNPs was assessed using PolyPhen-2 and AMYCO. A total of 27 SNPs were identified, including 20 nonsynonymous variants. Thirteen major haplotypes were observed. The ARR allele, which provides resistance to classical scrapie, was present in 58.7% of the population, with 18.5% of animals being homozygous. Several previously unreported SNPs were identified, and their impact on prion protein aggregation propensity and structure was explored. The high frequency of the ARR allele without full ARR fixation suggests that no selective breeding for scrapie resistance has been applied. These results support the adoption of gradual selection strategies that preserve genetic variability and promote farmer compliance, while increasing classical and atypical scrapie resistance.eng
dc.description.versioninfo:eu-repo/semantics/publishedVersion
dc.identifier.citationRodrigues, S.; Moreira, G.; Santos-Silva, S.; Gomes-Gonçalves, S.; Aires Pereira, M.; Baptista, A.; Cruz, R.; Esteves, F.; Mesquita, J.R. Mapping PRNP Polymorphisms in Portuguese Serra da Estrela Ovine Populations: Insights into Scrapie Susceptibility and Farm Animal Improvement. Animals 2025, 15, 2750. https://doi.org/ 10.3390/ani15182750
dc.identifier.doi10.3390/ani15182750en_US
dc.identifier.issn2076-2615en_US
dc.identifier.slugcv-prod-4702486
dc.identifier.urihttp://hdl.handle.net/10400.19/9717
dc.language.isoeng
dc.peerreviewedyes
dc.relationPRRC05-i03-I-000190
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/
dc.subjectPRNP gene
dc.subjectscrapie resistance
dc.subjectsheep
dc.subjectSerra da Estrela
dc.subjectsingle nucleotide polymorphisms (SNPs)
dc.subjectanimal improvement
dc.titleMapping PRNP Polymorphisms in Portuguese Serra da Estrela Ovine Populations: Insights into Scrapie Susceptibility and Farm Animal Improvementen_US
dc.typeresearch articleen_US
dspace.entity.typePublication
oaire.citation.issue18en_US
oaire.citation.startPage2750
oaire.citation.titleAnimalsen_US
oaire.citation.volume15en_US
oaire.versionhttp://purl.org/coar/version/c_970fb48d4fbd8a85
person.familyNameCruz
person.familyNameEsteves
person.givenNameRita
person.givenNameFernando
person.identifier.ciencia-idA11E-DBFF-16E8
person.identifier.ciencia-id6E19-A3CC-897E
person.identifier.orcid0000-0002-5767-7835
person.identifier.orcid0000-0003-0589-0746
rcaap.cv.cienciaid6E19-A3CC-897E | Fernando Alexandre Almeida Esteves
rcaap.rightsopenAccessen_US
relation.isAuthorOfPublication8e60c18a-9c3f-4b0e-be9e-4378ebc1594e
relation.isAuthorOfPublication93d688a9-9716-444c-9d08-fdca593d630d
relation.isAuthorOfPublication.latestForDiscovery8e60c18a-9c3f-4b0e-be9e-4378ebc1594e

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