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When Bones Blur the Lines

2026-06Artigo científico Acesso aberto
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dc.contributor.authorAlves-Cardoso, Francisca
dc.contributor.authorGomes, Cláudia
dc.contributor.authorPalomo-Díez, Sara
dc.contributor.authorLópez-Matayoshi, César
dc.contributor.authorVassallo, Steffi
dc.contributor.authorMalcherek, Anne
dc.contributor.authorRodrigues, Zélia
dc.contributor.authorAssis, Sandra
dc.contributor.authorMárquez-Grant, Nicholas
dc.contributor.institutionCentro em Rede de Investigação em Antropologia (CRIA - NOVA FCSH)
dc.contributor.pblSpringer Science Business Media
dc.date.accessioned2026-07-09T10:20:02Z
dc.date.available2026-07-09T10:20:02Z
dc.date.issued2026-06
dc.descriptionUID/04038/2025 https://doi.org/10.54499/UID/04038/2025
dc.description.abstractBackground/Objectives: Sex estimation is a cornerstone of research and practice in bioarchaeology and forensic anthropology. However, morphological and metric methods are often hampered by population-specific variation, subjectivity in assessment, and taphonomy. This study compares morphological analysis and ancient DNA (aDNA)-based sex assessment in a 19th-century Portuguese sample to evaluate the accuracy of osteological (anthropological) criteria. Methods: This study analysed 37 skeletons from the Venerável Ordem Terceira da Nossa Senhora do Carmo burial grounds in Porto. Sex estimation was based on (1) the bioanthropological assessment of morphological traits of the os coxae and the skull (2) through aDNA analysis using a multi-marker approach, including real-time PCR (qPCR) targeting autosomal loci, the amelogenin locus, a Y-chromosomal INDEL, and Y-STRs. aDNA was extracted via a non-destructive protocol. Results: Whilst anthropological analysis was possible on all 37 individuals, estimation of sex through aDNA analysis was possible for 26 individuals. A 20% discordance rate was found between morphological and aDNA results. Many individuals morphologically classified as “possible female” or “indeterminate” were genetically identified as male. Genetic analysis resolved most cases that biological anthropologists concluded were “indeterminate”. Conclusions: The high discordance in the Carmo sub-sample may indicate reduced skeletal sexual dimorphism, with males exhibiting skeletal traits typically associated with females, suggesting a sample-specific reduction in sexual dimorphism likely influenced by environmental, nutritional, and/or genetic stressors. A limitation of this study is its small sample size: only 26 of 37 individuals yielded usable genetic results, and only a portion of these individuals provided sufficient data for a direct comparison between morphological and genetic data. Nevertheless, these findings highlight the risk that applying generalised osteological standards relying solely on morphology can lead to systematic misclassification, emphasising the need for a critical, multidisciplinary approach to sex estimation.en
dc.description.versionpublishersversion
dc.description.versionpublished
dc.format.extent17
dc.format.extent854402
dc.identifier.doi10.3390/genes17070726
dc.identifier.issn0920-8569
dc.identifier.otherPURE: 166361034
dc.identifier.otherPURE UUID: 7863af0d-67fc-4e60-9f46-488276f6e47a
dc.identifier.otherORCID: /0000-0001-8386-2009/work/218971421
dc.identifier.urihttp://hdl.handle.net/10362/204401
dc.identifier.urlhttps://www.mdpi.com/2073-4425/17/7/726
dc.language.isoeng
dc.peerreviewedyes
dc.relationinfo:eu-repo/grantAgreement/FCT/Avaliação UID 2023%2F2024/UID%2F04038%2F2025/PT
dc.subjectSexual dimorphism
dc.subjectBioarchaeology
dc.subjectSex estimation
dc.subjectHuman variation
dc.subjectHuman remains
dc.subjectPorto (Portugal)
dc.subjectaDNA
dc.titleWhen Bones Blur the Linesen
dc.title.subtitleAncient DNA Validation of Morphological Sex Estimation Traits and the Challenges of Population-Specific Dimorphismen
dc.typejournal article
degois.publication.firstPage1
degois.publication.issue7
degois.publication.lastPage17
degois.publication.titleGenes
degois.publication.volume17
dspace.entity.typePublication
rcaap.rightsopenAccess

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