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X-chromosomal STRs: Metapopulations and mutation rates

2025Journal article Open access
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dc.contributor.authorGusmão, L.
dc.contributor.authorAntão-Sousa, S.
dc.contributor.authorFaustino, M.
dc.contributor.authorAbovich, M.A.
dc.contributor.authorAguirre, D.
dc.contributor.authorAlghafri, R.
dc.contributor.authorAlves, C.
dc.contributor.authorAmorim, A.
dc.contributor.authorArévalo, C.
dc.contributor.authorBaldassarri, L.
dc.contributor.authorBarletta-Carrillo, C.
dc.contributor.authorBerardi, G.
dc.contributor.authorBobillo, C.
dc.contributor.authorBorjas, L.
dc.contributor.authorBraganholi, D.F.
dc.contributor.authorBrehm, A.
dc.contributor.authorBuiles, J.J.
dc.contributor.authorCainé, Laura
dc.contributor.authorCarvalho, E.F.
dc.contributor.authorCarvalho, Mónica
dc.contributor.authorCatelli, L.
dc.contributor.authorCicarelli, R.M.B.
dc.contributor.authorContreras, A.
dc.contributor.authorCorach, D.
dc.contributor.authorDi Marco, F.G.
dc.contributor.authorDiederiche, M.V.
dc.contributor.authorDomingues, P.
dc.contributor.authorEspinoza, M.
dc.contributor.authorFernandéz, J.M.
dc.contributor.authorGarcía, M.G.
dc.contributor.authorGarcía, O.
dc.contributor.authorGaviria, A.
dc.contributor.authorGomes, I.
dc.contributor.authorGrattapaglia, D.
dc.contributor.authorHenao, J.
dc.contributor.authorHernandez, A.
dc.contributor.authorIbarra, A.A.
dc.contributor.authorLima, G.
dc.contributor.authorManterola, I.M.
dc.contributor.authorMarrero, C.
dc.contributor.authorMartins, J.A.
dc.contributor.authorMendoza, L.
dc.contributor.authorMosquera, A.
dc.contributor.authorNascimento, E.C.
dc.contributor.authorOnofri, V.
dc.contributor.authorPancorbo, M.M.
dc.contributor.authorPestano, J.J.
dc.contributor.authorPlaza, G.
dc.contributor.authorPorto, M.J.
dc.contributor.authorPosada, Y.C.
dc.contributor.authorRebelo, M.L.
dc.contributor.authorRiego, E.
dc.contributor.authorRodenbusch, R.
dc.contributor.authorRodríguez, A.
dc.contributor.authorRodríguez, A.
dc.contributor.authorSanchez-Diz, P.
dc.contributor.authorSantos, S.
dc.contributor.authorSimão, F.
dc.contributor.authorSiza Fuentes, L.M.
dc.contributor.authorSumita, D.
dc.contributor.authorTomas, C.
dc.contributor.authorToscanini, U.
dc.contributor.authorTrindade-Filho, A.
dc.contributor.authorTurchi, C.
dc.contributor.authorVullo, C.
dc.contributor.authorYurrebaso, I.
dc.contributor.authorPereira, V.
dc.contributor.authorPinto, N.
dc.date.accessioned2025-02-05T14:50:09Z
dc.date.available2025-02-05T14:50:09Z
dc.date.issued2025
dc.description.abstractThe analysis of STRs located on the X chromosome has been one of the strategies used to address complex kinship cases. Its usefulness is, however, limited by the low availability of population haplotype frequency data and lack of knowledge on the probability of mutations. Due to the large amount of data required to obtain reliable estimates, it is important to investigate the possibility of grouping data from populations with similar profiles when calculating these parameters. To better understand the partition of genetic diversity among human populations for the X-STRs most used in forensics, an analysis was carried out based on data available in the literature and new data (23,949 haplotypes in total; from these 10,445 new) obtained through collaborative exercises within the Spanish and Portuguese Working Group of the International Society for Forensic Genetics. Based on the available population data, a similarity in X-STR profiles was found in European populations, and in East Asian populations, except for some isolates. A greater complexity was found for African, South American, and South and Southeast Asian populations, preventing their grouping into large metapopulations. New segregation data on 2273 father/mother/daughter trios were also obtained, aiming for a more thorough analysis of X-STR mutation rates. After combining our data with published information on father/mother/daughter trios, no mutations were detected in 13 out of 37 loci analyzed. For the remaining loci, mutation rates varied between 2.68 × 10−4 (DXS7133) and 1.07x10−2 (DXS10135), being 5.2 times higher in the male (4.16 ×10−3) than in the female (8.01 ×10−4) germline.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationGusmão L, Antão-Sousa S, Faustino M, Abovich MA, Aguirre D, Alghafri R, Alves C, Amorim A, Arévalo C, Baldassarri L, Barletta-Carrillo C, Berardi G, Bobillo C, Borjas L, Braganholi DF, Brehm A, Builes JJ, Cainé L, Carvalho EF, Carvalho M, Catelli L, Cicarelli RMB, Contreras A, Corach D, Di Marco FG, Diederiche MV, Domingues P, Espinoza M, Fernandéz JM, García MG, García O, Gaviria A, Gomes I, Grattapaglia D, Henao J, Hernandez A, Ibarra AA, Lima G, Manterola IM, Marrero C, Martins JA, Mendoza L, Mosquera A, Nascimento EC, Onofri V, Pancorbo MM, Pestano JJ, Plaza G, Porto MJ, Posada YC, Rebelo ML, Riego E, Rodenbusch R, Rodríguez A, Rodríguez A, Sanchez-Diz P, Santos S, Simão F, Siza Fuentes LM, Sumita D, Tomas C, Toscanini U, Trindade-Filho A, Turchi C, Vullo C, Yurrebaso I, Pereira V, Pinto N. X-chromosomal STRs: Metapopulations and mutation rates. Forensic Sci Int Genet. 2025 Jan 27;76:103232. doi: 10.1016/j.fsigen.2025.103232. Epub ahead of print. PMID: 39893847.pt_PT
dc.identifier.doi10.1016/j.fsigen.2025.103232pt_PT
dc.identifier.issn1878-0326
dc.identifier.urihttp://hdl.handle.net/10400.26/54211
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherElsevierpt_PT
dc.relationBrazil ref. 315007/2023-0pt_PT
dc.relationPOCI-01–0145- FEDER-007274pt_PT
dc.relationIntegrated algorithms for modelling genetic variations
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/pt_PT
dc.subjectForensic geneticspt_PT
dc.subjectKinship analysispt_PT
dc.subjectPopulation stratificationpt_PT
dc.subjectMutation ratespt_PT
dc.subjectX-STRspt_PT
dc.titleX-chromosomal STRs: Metapopulations and mutation ratespt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.awardTitleIntegrated algorithms for modelling genetic variations
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/CEEC IND5ed/2022.04997.CEECIND%2FCP1735%2FCT0015/PT
oaire.citation.titleForensic Science International: Geneticspt_PT
oaire.citation.volume76pt_PT
oaire.fundingStreamCEEC IND5ed
person.familyNameCainé
person.familyNameCarvalho
person.givenNameLaura
person.givenNameMónica
person.identifierAAR-9087-2020
person.identifier.ciencia-id021A-33DD-869D
person.identifier.orcid0000-0002-6542-4256
person.identifier.orcid0000-0002-9195-5640
person.identifier.scopus-author-id2311978
person.identifier.scopus-author-id7201414007
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.nameFundação para a Ciência e a Tecnologia
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT
relation.isAuthorOfPublication1a1e1ffc-1439-48f2-a4c3-359c66db3ad1
relation.isAuthorOfPublication25139469-58ba-46e0-97dd-ca821eb3297a
relation.isAuthorOfPublication.latestForDiscovery25139469-58ba-46e0-97dd-ca821eb3297a
relation.isProjectOfPublicationcebddf92-1432-485c-a550-36c24c1d4baf
relation.isProjectOfPublication.latestForDiscoverycebddf92-1432-485c-a550-36c24c1d4baf

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