Repository logo
 
Publication

Microsatellites’ mutation modeling through the analysis of the Y-chromosomal transmission: Results of a GHEP-ISFG collaborative study

2023-12-14Journal article Open access
Simple item page
dc.contributor.authorAntão-Sousa, Sofia
dc.contributor.authorGusmão, Leonor
dc.contributor.authorModesti, Nidia M.
dc.contributor.authorFeliziani, Sofía
dc.contributor.authorFaustino, Marisa
dc.contributor.authorMarcucci, Valeria
dc.contributor.authorSarapura, Claudia
dc.contributor.authorRibeiro, Julyana
dc.contributor.authorCarvalho, Elizeu
dc.contributor.authorPereira, Vania
dc.contributor.authorTomas, Carmen
dc.contributor.authorde Pancorbo, Marian M.
dc.contributor.authorBaeta, Miriam
dc.contributor.authorAlghafri, Rashed
dc.contributor.authorAlmheiri, Reem
dc.contributor.authorBuiles, Juan José
dc.contributor.authorGouveia, Nair
dc.contributor.authorBurgos, German
dc.contributor.authorPontes, Lurdes
dc.contributor.authorIbarra, Adriana
dc.contributor.authorSilva, Cláudia Vieira da
dc.contributor.authorParveen, Rukhsana
dc.contributor.authorBenitez, Marc
dc.contributor.authorAmorim, Antonio
dc.contributor.authorPinto, Nádia
dc.date.accessioned2024-01-24T17:47:56Z
dc.date.available2024-01-24T17:47:56Z
dc.date.issued2023-12-14
dc.description.abstractThe Spanish and Portuguese Speaking Working Group of the International Society for Forensic Genetics (GHEP-ISFG) organized a collaborative study on mutations of Y-chromosomal short tandem repeats (Y-STRs). New data from 2225 father-son duos and data from 44 previously published reports, corresponding to 25,729 duos, were collected and analyzed. Marker-specific mutation rates were estimated for 33 Y-STRs. Although highly dependent on the analyzed marker, mutations compatible with the gain or loss of a single repeat were 23.2 times more likely than those involving a greater number of repeats. Longer alleles (relatively to the modal one) showed to be nearly twice more mutable than the shorter ones. Within the subset of longer alleles, the loss of repeats showed to be nearly twice more likely than the gain. Conversely, shorter alleles showed a symmetrical trend, with repeat gains being twofold more frequent than reductions. A positive correlation between the paternal age and the mutation rate was observed, strengthening previous findings. The results of a machine learning approach, via logistic regression analyses, allowed the establishment of algebraic formulas for estimating the probability of mutation depending on paternal age and allele length for DYS389I, DYS393 and DYS627. Algebraic formulas could also be established considering only the allele length as predictor for DYS19, DYS389I, DYS389II-I, DYS390, DYS391, DYS393, DYS437, DYS439, DYS449, DYS456, DYS458, DYS460, DYS481, DYS518, DYS533, DYS576, DYS626 and DYS627 loci. For the remaining Y-STRs, a lack of statistical significance was observed, probably as a consequence of the small effective size of the subsets available, a common difficulty in the modeling of rare events as is the case of mutations. The amount of data used in the different analyses varied widely, depending on how the data were reported in the publications analyzed. This shows a regrettable waste of produced data, due to inadequate communication of the results, supporting an urgent need of publication guidelines for mutation studies.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationAntão-Sousa S, Gusmão L, Modesti NM, Feliziani S, Faustino M, Marcucci V, Sarapura C, Ribeiro J, Carvalho E, Pereira V, Tomas C, de Pancorbo MM, Baeta M, Alghafri R, Almheiri R, Builes JJ, Gouveia N, Burgos G, Pontes ML, Ibarra A, da Silva CV, Parveen R, Benitez M, Amorim A, Pinto N. Microsatellites' mutation modeling through the analysis of the Y-chromosomal transmission: Results of a GHEP-ISFG collaborative study. Forensic Sci Int Genet. 2023 Forensic science international. Genetics, 69, 102999. Advance online publicationpt_PT
dc.identifier.doi10.1016/j.fsigen.2023.102999pt_PT
dc.identifier.urihttp://hdl.handle.net/10400.26/49336
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherElsevier B.V. - Forensic Sci Int Genetpt_PT
dc.relationPOCI-01–0145- FEDER-007274pt_PT
dc.relationNP (2022.04997. CEECIND)pt_PT
dc.relationUncovering mutational mechanisms through MPS analyses
dc.relation.publisherversionhttps://www.sciencedirect.com/science/article/pt_PT
dc.rights.urihttp://creativecommons.org/licenses/by-nc/4.0/pt_PT
dc.subjectY-Chromosomept_PT
dc.subjectMutationpt_PT
dc.subjectMutation Modelingpt_PT
dc.subjectMutation rate estimationpt_PT
dc.subjectMicrosatellitespt_PT
dc.subjectY-STRspt_PT
dc.titleMicrosatellites’ mutation modeling through the analysis of the Y-chromosomal transmission: Results of a GHEP-ISFG collaborative studypt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.awardTitleUncovering mutational mechanisms through MPS analyses
oaire.awardURIinfo:eu-repo/grantAgreement/FCT//SFRH%2FBD%2F136284%2F2018/PT
oaire.citation.issueForensic Science International: Genetics 69 (2024)pt_PT
oaire.citation.startPage102999pt_PT
oaire.citation.titleForensic Science International: Geneticspt_PT
oaire.citation.volume69pt_PT
person.familyNamePontes
person.familyNameda Silva
person.familyNameGonçalves de Almeida Pinto
person.givenNameLurdes
person.givenNameCláudia
person.givenNameNádia Maria
person.identifierK-3202-2013
person.identifier.ciencia-idD218-0D74-678B
person.identifier.ciencia-id8513-1E3D-E6A9
person.identifier.orcid0000-0003-0673-1296
person.identifier.orcid0000-0003-0373-7457
person.identifier.orcid0000-0002-1903-4206
person.identifier.scopus-author-id9839086200
person.identifier.scopus-author-idhttp://orcid.org/0000-0002-1903-4206
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.nameFundação para a Ciência e a Tecnologia
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT
relation.isAuthorOfPublication48a104f5-7da5-4c74-afcf-0717c277eede
relation.isAuthorOfPublication0513acfa-9182-491c-b57f-f14aa1cdd2e2
relation.isAuthorOfPublication44d677f5-bec4-4732-84a1-adb960c92875
relation.isAuthorOfPublication.latestForDiscovery44d677f5-bec4-4732-84a1-adb960c92875
relation.isProjectOfPublication9b250285-409b-43ff-99ef-56248499af32
relation.isProjectOfPublication.latestForDiscovery9b250285-409b-43ff-99ef-56248499af32

Files

Original bundle
Now showing 1 - 1 of 1
Thumbnail Image
Name:
1-s2.0-S1872497323001746-main.pdf
Size:
514.38 KB
Format:
Adobe Portable Document Format
Download
License bundle
Now showing 1 - 1 of 1
No Thumbnail Available
Name:
license.txt
Size:
1.85 KB
Format:
Item-specific license agreed upon to submission
Description:
Download

Collections

INMLCF - Artigos Científicos