DNA rewriting our memory : Recovering missing people through their genetic profile

Continuous advances in DNA analysis for forensic purposes have set milestones in the search for genetic identity in criminal cases, disasters, and disappearances. Technological advances in the study of our genome now allow us to infer whose remains have been found, for example, at a mass grave or an anonymous tomb, and to extrapolate where they lived, their physical appearance, or their family origin. Thanks to a series of fixed variations between individuals, the analysis of DNA of forensic interest allows the identification of individuals via their genetic profile. This identification can be carried out by comparing the profile of the human remains with those of known profiles or by their compatibility with DNA inherited by their relatives

Divulgando la cultura científica en la ciudad. Asociación cultural "Piratas de la Ciencia"

El movimiento asociativo y las plataformas ciudadanas han sido y continúan siendo uno de los grandes bloques de consolidación del activismo social. Laraña y Gusfield (1994) hablan de un cambio de contexto de los movimientos sociales, desde un ámbito relacionado con el binomio capital-trabajo hacia una movilización por la pluralidad de valores culturales y simbólicos. Este es el caso, por ejemplo, del activismo ecológico, plataformas de defensores de consumidores, pacifistas, entre otros, que buscan formas alternativas para la participación y decisión en asuntos de interés. Sin embargo, no es tan fácil determinar si existe un movimiento social directo originado desde los propios colectivos científicos. El movimiento Open, el 'escéptico' entre periodistas, científicos y divulgadores o las asociaciones en pro de la I+D, podrían entenderse como ejemplos de activismo o de movimiento social. El colectivo Piratas de la Ciencia es una asociación cultural independiente que viene trabajando en el campo de la comunicación de la ciencia en el entorno local e internacional. Las actividades que se proponen en la asociación se entienden como acciones de grupo, colectivas, con un interés social dirigido a promover el contacto entre especialistas, en los distintos escenarios ciudadanos. Particularmente, entendemos al científico como uno más de los actores involucrados en la consolidación de la cultura en los distintos entornos sociales y ciudadanos. Presentaremos un resumen de las actividades realizadas por nuestra asociación en este contexto en los últimos años

Second GHEP-ISFG exercise for DVI: “DNA-led” victims’ identification in a simulated air crash

The Spanish and Portuguese-Speaking Working Group of the International Society for Forensic Genetics (GHEP-ISFG) has organized a second collaborative exercise on a simulated case of Disaster Victim Identification (DVI), with the participation of eighteen laboratories. The exercise focused on the analysis of a simulated plane crash case of medium-size resulting in 66 victims with varying degrees of fragmentation of the bodies (with commingled remains). As an additional difficulty, this second exercise included 21 related victims belonging to 6 families among the 66 missings to be identified. A total number of 228 post-mortem samples were represented with aSTR and mtDNA profiles, with a proportion of partial aSTR profiles simulating charred remains. To perform the exercise, participants were provided with aSTR and mtDNA data of 51 reference pedigrees —some of which deficient—including 128 donors for identification purposes. The exercise consisted firstly in the comparison of the post-mortem genetic profiles in order to re-associate fragmented remains to the same individual and secondly in the identification of the re-associated remains by comparing aSTR and mtDNA profiles with reference pedigrees using pre-established thresholds to report a positive identification. Regarding the results of the post-mortem samples re-associations, only a small number of discrepancies among participants were detected, all of which were from just a few labs. However, in the identification process by kinship analysis with family references, there were more discrepancies in comparison to the correct results. The identification results of single victims yielded fewer problems than the identification of multiple related victims within the same family groups. Several reasons for the discrepant results were detected: a) the identity/non-identity hypotheses were sometimes wrongly expressed in the likelihood ratio calculations, b) some laboratories failed to use all family references to report the DNA match, c) In families with several related victims, some laboratories firstly identified some victims and then unnecessarily used their genetic information to identify the remaining victims within the family, d) some laboratories did not correctly use “prior odds” values for the Bayesian treatment of the episode for both post-mortem/post-mortem re-associations as well as the ante-mortem/post-mortem comparisons to evaluate the probability of identity. For some of the above reasons, certain laboratories failed to identify some victims. This simulated “DNA-led” identification exercise may help forensic genetic laboratories to gain experience and expertize for DVI or MPI in using genetic data and comparing their own results with the ones in this collaborative exercise.This research did not receive any specific grant from funding agencies in the public, commercial, or not-for-profit sectors.Peer reviewe

Divulgando la cultura científica en la ciudad. Asociación cultural "Piratas de la Ciencia"

El movimiento asociativo y las plataformas ciudadanas han sido y continúan siendo uno de los grandes bloques de consolidación del activismo social. Laraña y Gusfield (1994) hablan de un cambio de contexto de los movimientos sociales, desde un ámbito relacionado con el binomio capital-trabajo hacia una movilización por la pluralidad de valores culturales y simbólicos. Este es el caso, por ejemplo, del activismo ecológico, plataformas de defensores de consumidores, pacifistas, entre otros, que buscan formas alternativas para la participación y decisión en asuntos de interés. Sin embargo, no es tan fácil determinar si existe un movimiento social directo originado desde los propios colectivos científicos. El movimiento Open, el 'escéptico' entre periodistas, científicos y divulgadores o las asociaciones en pro de la I+D, podrían entenderse como ejemplos de activismo o de movimiento social. El colectivo Piratas de la Ciencia es una asociación cultural independiente que viene trabajando en el campo de la comunicación de la ciencia en el entorno local e internacional. Las actividades que se proponen en la asociación se entienden como acciones de grupo, colectivas, con un interés social dirigido a promover el contacto entre especialistas, en los distintos escenarios ciudadanos. Particularmente, entendemos al científico como uno más de los actores involucrados en la consolidación de la cultura en los distintos entornos sociales y ciudadanos. Presentaremos un resumen de las actividades realizadas por nuestra asociación en este contexto en los últimos años

Species identification in routine casework samples using the SPInDel kit

The identification of species in casework samples is of fundamental importance for forensic investigations. Laboratories are increasingly compelled to provide accurate and fast identifications in trace materials left on crime scenes, wildlife poaching, illegal trade of protected species, fraudulent food products cases, etc. However, the field of nonhuman forensic genetics is still working on the standardization of typing methods and practices. Here we describe the successful implementation of the Species Identification by Insertions/Deletions (SPInDel) method in routine casework analyses in 11 laboratories worldwide. The SPInDel was developed to detect human DNA, at the same time that identifies common animal species. The fragment size analysis of six mtDNA regions allows identification in suboptimal DNA samples, including mixtures, with no need for sequencing. The samples were collected from 2013 to 2018 and included hair, blood, meat, saliva, faeces, bones, etc. The SPInDel kit successfully identified >95% of the samples, being dog, human and pig the most frequently detected species. The six SPInDel loci were successfully amplified in mixtures and degraded samples (river water, sand, stains in clothes, etc.). Interestingly, several species that were not originally targeted by SPInDel primers were also identified (e.g., red fox, brown bear, fallow deer and red deer). In conclusion, the SPInDel kit was successfully used in crime scene investigations (often involving human DNA detection) and in cases of poaching, environmental contamination and food fraud. It is now becoming a useful tool for the routine analysis of nonhuman DNA samples within the high quality standards of forensic genetics.Fil: Pereira, Filipe. Universidad de Porto; PortugalFil: Alves, Cíntia. Universidad de Porto; PortugalFil: Couto, Cátia. Universidad de Porto; PortugalFil: López Díaz, Lourdes. Servicio de Criminalística de la Guardia Civil; EspañaFil: Parra, David. Servicio de Criminalística de la Guardia Civil; EspañaFil: Furfuro, Sandra. Universidad Nacional de Cuyo. Facultad de Ciencias Médicas. Laboratorio de Análisis de ADN; ArgentinaFil: Aler, Mercedes. Instituto de Medicina Legal y Ciencias Forenses; EspañaFil: Burillo Borrego, Luís. Instituto de Medicina Legal y Ciencias Forenses de Valencia; EspañaFil: Olekšáková, Tereza. Institute of Criminalistics; República ChecaFil: Balsa, Filipa. Instituto Nacional de Medicina Legal e Ciências Forenses; PortugalFil: Sampaio, Lisa. Instituto Nacional de Medicina Legal e Ciências Forenses; PortugalFil: Porto, Maria João Anjos. Instituto Nacional de Medicina Legal e Ciências Forenses; PortugalFil: Costa, Heloisa Afonso. Serviço de Genética e Biologia Forenses; PortugalFil: Arévalo Voss, Cristina. Cuerpo Nacional de Policia; EspañaFil: Caputo, Mariela. Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica. Servicio de Huellas Digitales Genéticas; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay; Argentina. Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica. Departamento de Microbiología, Inmunología y Biotecnología; ArgentinaFil: Corach, Daniel. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay; Argentina. Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica. Servicio de Huellas Digitales Genéticas; Argentina. Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica. Departamento de Microbiología, Inmunología y Biotecnología; ArgentinaFil: García, Óscar. Basque Country Police-Ertzaintza; EspañaFil: Pedrosa Moro, Susana. Unidad de Laboratorio de Navarra de Servicios y Tecnologías; EspañaFil: Pereira, Rui. Universidad de Porto; PortugalFil: Amorim, António. Universidad de Porto; Portuga

The genetic legacy of religious diversity and intolerance: paternal lineages of Christians, Jews and Muslims in the Iberian Peninsula.

Most studies of European genetic diversity have focused on large-scale variation and interpretations based on events in prehistory, but migrations and invasions in historical times may also have had profound effects on the genetic landscape. The Iberian peninsula provides a suitable region to examine the demographic impact of such recent events, since its complex recent history has involved the long-term residence of two very different populations with distinct geographical origins, and their own particular cultural and religious characteristics – North African Muslims, and Sephardic Jews. To address this question we analysed Y chromosome haplotypes, which provide the necessary phylogeographic resolution, in 1140 males from the Iberian Peninsula and Balearic Islands. Admixture analysis based on binary and Y-STR haplotypes indicates a high mean proportion of ancestry from North African (10.6%) and Sephardic Jewish (19.8%) sources. Despite alternative possible sources for lineages ascribed a Sephardic Jewish origin, these proportions attest to a high level of religious conversion (whether voluntary or enforced), driven by historical episodes of social and religious intolerance, that ultimately led to the integration of descendants. In agreement with the historical record, analysis of haplotype sharing and diversity within specific haplogroups suggests that the Sephardic Jewish component is the more ancient. The geographical distribution of North African ancestry in the peninsula does not reflect the initial colonization and subsequent withdrawal, and is likely to result from later enforced population movement - more marked in some regions that others – plus the effects of genetic drift

Identifying Genetic Traces of Historical Expansions: Phoenician Footprints in the Mediterranean

The Phoenicians were the dominant traders in the Mediterranean Sea two thousand to three thousand years ago and expanded from their homeland in the Levant to establish colonies and trading posts throughout the Mediterranean, but then they disappeared from history. We wished to identify their male genetic traces in modern populations. Therefore, we chose Phoenician-influenced sites on the basis of well-documented historical records and collected new Y-chromosomal data from 1330 men from six such sites, as well as comparative data from the literature. We then developed an analytical strategy to distinguish between lineages specifically associated with the Phoenicians and those spread by geographically similar but historically distinct events, such as the Neolithic, Greek, and Jewish expansions. This involved comparing historically documented Phoenician sites with neighboring non-Phoenician sites for the identification of weak but systematic signatures shared by the Phoenician sites that could not readily be explained by chance or by other expansions. From these comparisons, we found that haplogroup J2, in general, and six Y-STR haplotypes, in particular, exhibited a Phoenician signature that contributed > 6% to the modern Phoenician-influenced populations examined. Our methodology can be applied to any historically documented expansion in which contact and noncontact sites can be identified

Species identification in forensic samples using the SPInDel approach: A GHEP-ISFG inter-laboratory collaborative exercise

DNA is a powerful tool available for forensic investigations requiring identification of species. However, it is necessary to develop and validate methods able to produce results in degraded and or low quality DNA samples with the high standards obligatory in forensic research. Here, we describe a voluntary collaborative exercise to test the recently developed Species Identification by Insertions/Deletions (SPInDel) method. The SPInDel kit allows the identification of species by the generation of numeric profiles combining the lengths of six mitochondrial ribosomal RNA (rRNA) gene regions amplified in a single reaction followed by capillary electrophoresis. The exercise was organized during 2014 by a Working Commission of the Spanish and Portuguese-Speaking Working Group of the International Society for Forensic Genetics (GHEP-ISFG), created in 2013. The 24 participating laboratories from 10 countries were asked to identify the species in 11 DNA samples from previous GHEP-ISFG proficiency tests using a SPInDel primer mix and control samples of the 10 target species. A computer software was also provided to the participants to assist the analyses of the results. All samples were correctly identified by 22 of the 24 laboratories, including samples with low amounts of DNA (hair shafts) and mixtures of saliva and blood. Correct species identifications were obtained in 238 of the 241 (98.8%) reported SPInDel profiles. Two laboratories were responsible for the three cases of misclassifications. The SPInDel was efficient in the identification of species in mixtures considering that only a single laboratory failed to detect a mixture in one sample. This result suggests that SPInDel is a valid method for mixture analyses without the need for DNA sequencing, with the advantage of identifying more than one species in a single reaction. The low frequency of wrong (5.0%) and missing (2.1%) alleles did not interfere with the correct species identification, which demonstrated the advantage of using a method based on the analysis of multiple loci. Overall, the SPInDel method was easily implemented by laboratories using different genotyping platforms, the interpretation of results was straightforward and the SPInDel software was used without any problems. The results of this collaborative exercise indicate that the SPInDel method can be applied successfully in forensic casework investigations.Fil: Alves, Cíntia. Universidad de Porto; PortugalFil: Pereira, Rui. Universidad de Porto; PortugalFil: Prieto, Lourdes. Universidad de Santiago de Compostela; EspañaFil: Aler, Mercedes. Instituto de Medicina Legal y Ciencias Forenses de Valencia; EspañaFil: Amaral, Cesar R. L.. Universidade do Estado do Rio de Janeiro; BrasilFil: Arévalo, Cristina. Universidad de Alcalá; EspañaFil: Berardi, Gabriela. Fundación Favaloro; ArgentinaFil: Di Rocco, Florencia. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Instituto Multidisciplinario de Biología Celular. Provincia de Buenos Aires. Gobernación. Comisión de Investigaciones Científicas. Instituto Multidisciplinario de Biología Celular. Universidad Nacional de La Plata. Instituto Multidisciplinario de Biología Celular; ArgentinaFil: Caputo, Mariela. Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica. Servicio de Huellas Digitales Genéticas; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay; ArgentinaFil: Carmona, Cristian Hernandez. Poder Judicial. Departamento de Ciencias Forenses. Sección de Bioquímica; Costa RicaFil: Catelli, Laura. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay; Argentina. Equipo Argentino de Antropología Forense; ArgentinaFil: Costa, Heloísa Afonso. Instituto Nacional de Medicina Legal e Ciências Forenses; PortugalFil: Coufalova, Pavla. Institute of Criminalistics Prague; República ChecaFil: Furfuro, Sandra Beatriz. Universidad Nacional de Cuyo. Facultad de Ciencias Médicas. Laboratorio de Análisis de ADN; ArgentinaFil: García, Óscar. Polícia del País Vasco. Sección de Genética Forense; EspañaFil: Gaviria, Anibal. Cruz Roja Ecuatoriana; EcuadorFil: Goios, Ana. Universidad de Porto; PortugalFil: Gómez, Juan José Builes. Universidad de Antioquia; ColombiaFil: Hernández, Alexis. Instituto Nacional de Toxicología y Ciencias Forenses; EspañaFil: Betancor Hernández, Eva del Carmen. Instituto de Medicina Legal de Las Palmas. Laboratorio Genética Forense; EspañaFil: Miranda, Luís. Universidade de Aveiro; PortugalFil: Parra, David. Servicio de Criminalística de la Guardia Civil. Departamento de Química y Medio Ambiente; EspañaFil: Pedrosa, Susana. Unidad de Laboratorio de Navarra de Servicios y Tecnologías; EspañaFil: Porto, Maria João Anjos. Instituto Nacional de Medicina Legal e Ciências Forenses; PortugalFil: Rebelo, Maria de Lurdes. Instituto Nacional de Medicina Legal e Ciências Forenses; PortugalFil: Spirito, Matteo. Università Cattolica del Sacro Cuore; ItaliaFil: Torres, María del Carmen Villalobos. Universidad Autónoma de Nuevo León; MéxicoFil: Amorim, António. Universidad de Porto; PortugalFil: Pereira, Filipe. Universidad de Porto; Portuga