Eduardo Arroyo-Pardo | Universidad Complutense de Madrid (original) (raw)

Books by Eduardo Arroyo-Pardo

Papers by Eduardo Arroyo-Pardo

Del neolític a l’edat del bronze en el Mediterrani occidental. Estudis en homenatge a Bernat Martí Oliver. TV SIP 119, València, 2016

Together with the publication of new tombs and radiocarbon dates from the Early Neolithic, an ana... more Together with the publication of new tombs and radiocarbon dates from the Early Neolithic, an analysis is made about the complete catalogue of graves known of this chronology in the interior of the Iberian Peninsula and the Ebro Valley: the structure of the tomb used, the nature of the burial deposition, the sex and age of the individuals, the grave offerings (presence or absence) as well as the position and orientation of the deceased inside the grave. The aim is to show a general overview of the burial evidences of the first farmers in this region.

Revista Argentina De Antropologia Biologica, 2007

Lvcentvm, 2006

Resumen. La presencia de restos humanos de personas adultas en el yacimiento ibérico del Puig de ... more Resumen. La presencia de restos humanos de personas adultas en el yacimiento ibérico del Puig de la Nau de Benicarló, ha permitido la identificación del ADNmt correspondiente, a través del cual se ha constatado la pertenencia de los individuos analizados al haplogrupo V que se encuentra actualmente en el País Vasco y en Escandinavia.

Antiquitas, 2008

Priego de Córdoba). Cazadores recolectores del Paleolítico Superior en la sierra Subbética ANTIQV... more Priego de Córdoba). Cazadores recolectores del Paleolítico Superior en la sierra Subbética ANTIQVITAS -2008 -N.º 20 (pp. 213-221) -M.H.M. Priego de Córdoba La investigación sobre El Pirulejo. Una aproximación interdisciplinar The research about the El Pirulejo. An interdisciplinary approach MIGUEL CORTÉS SÁNCHEZ, FRANCISCO JOSÉ JIMÉNEZ ESPEJO, MARÍA DOLORES SIMÓN VALLEJO, JOSÉ ANTONIO LÓPEZ SÁEZ, JOSÉ ANTONIO RIQUELME CANTAL, EVA FERNÁNDEZ DOMÍNGUEZ, FRANCISCA MARTÍNEZ RUIZ, EVA PRATS MIRAVITLLAS, EDUARDO ARROYO, ALEJANDRO PÉREZ-PÉREZ, DANIEL TURBÓN BORREGA, LOURDES LÓPEZ MERINO y SEBASTIÁN PÉREZ DÍAZ

Journal of Forensic Sciences

BMC Genetics, 2015

Background: One of the most important dietary shifts underwent by human populations began to occu... more Background: One of the most important dietary shifts underwent by human populations began to occur in the Neolithic, during which new modes of subsistence emerged and new nutrients were introduced in diets. This change might have worked as a selective pressure over the metabolic pathways involved in the breakdown of substances extracted from food. Here we applied a candidate gene approach to investigate whether in populations with different modes of subsistence, diet-related genetic adaptations could be identified in the genes AGXT, PLRP2, MTRR, NAT2 and CYP3A5. Results: At CYP3A5, strong signatures of positive selection were detected, though not connected to any dietary variable, but instead to an environmental factor associated with the Tropic of Cancer. Suggestive signals of adaptions that could indeed be connected with differences in dietary habits of populations were only found for PLRP2 and NAT2. Contrarily, the demographic history of human populations seemed enough to explain patterns of diversity at AGXT and MTRR, once both conformed the evolutionary expectations under selective neutrality.

Short Tandem Repeat polymorphisms have been widely studied in the world, since specific databases... more Short Tandem Repeat polymorphisms have been widely studied in the world, since specific databases are required to produce correct estimates of forensic statistical parameters. In this regard, Y-chromosome STRs have been studied mainly in Europe but are relatively scarce for sub-Saharan populations, despite these populations are represented in most of the Western countries. The aim of this work is to detect groups of populations with the lowest genetic variability within the African context. This allows to establish the relative homogeneity of Y-STRs databases for forensic casework and eventually to provide a wider insight into the African genetic history. #

Nature Communications, 2015

The proportion of Europeans descending from Neolithic farmers B10 thousand years ago (KYA) or Pal... more The proportion of Europeans descending from Neolithic farmers B10 thousand years ago (KYA) or Palaeolithic hunter-gatherers has been much debated. The male-specific region of the Y chromosome (MSY) has been widely applied to this question, but unbiased estimates of diversity and time depth have been lacking. Here we show that European patrilineages underwent a recent continent-wide expansion. Resequencing of 3.7 Mb of MSY DNA in 334 males, comprising 17 European and Middle Eastern populations, defines a phylogeny containing 5,996 single-nucleotide polymorphisms. Dating indicates that three major lineages (I1, R1a and R1b), accounting for 64% of our sample, have very recent coalescent times, ranging between 3.5 and 7.3 KYA. A continuous swathe of 13/17 populations share similar histories featuring a demographic expansion starting B2.1-4.2 KYA. Our results are compatible with ancient MSY DNA data, and contrast with data on mitochondrial DNA, indicating a widespread male-specific phenomenon that focuses interest on the social structure of Bronze Age Europe.

Mol Biol Evol, 2014

Many studies of human populations have used the male-specific region of the Y chromosome (MSY) as... more Many studies of human populations have used the male-specific region of the Y chromosome (MSY) as a marker, but MSY sequence variants have traditionally been subject to ascertainment bias. Also, dating of haplogroups has relied on Y-specific short tandem repeats (STRs), involving problems of mutation rate choice, and possible long-term mutation saturation. Next-generation sequencing can ascertain single nucleotide polymorphisms (SNPs) in an unbiased way, leading to phylogenies in which branch-lengths are proportional to time, and allowing the times-to-most-recent-common-ancestor (TMRCAs) of nodes to be estimated directly. Here we describe the sequencing of 3.7 Mb of MSY in each of 448 human males at a mean coverage of 51 ×, yielding 13,261 high-confidence SNPs, 65.9% of which are previously unreported. The resulting phylogeny covers the majority of the known clades, provides date estimates of nodes, and constitutes a robust evolutionary framework for analysing the history of other classes of mutation. Different clades within the tree show subtle but significant differences in branch lengths to the root. We also apply a set of 23 Y-STRs to the same samples, allowing SNP-and STR-based diversity and TMRCA estimates to be systematically compared. Ongoing purifying selection is suggested by our analysis of the phylogenetic distribution of non-synonymous variants in 15 MSY single-copy genes. by guest on December 3, 2014 http://mbe.oxfordjournals.org/ Downloaded from by guest on December 3, 2014 http://mbe.oxfordjournals.org/ Downloaded from

Forensic Science International: Genetics Supplement Series, 2011

Mitochondrial DNA sequences of the two hypervariable regions HVS-I and HVS-II were determined for... more Mitochondrial DNA sequences of the two hypervariable regions HVS-I and HVS-II were determined for 233 unrelated autochthonous individuals from East, Central and West Pyrenees. Resulting haplogroups were confirmed with RFLPs. Although the distribution of mitochondrial DNA haplogroups in the Pyrenees presents differences between populations, the results obtained may well support the hypothesis that the mountain chain did not act as a barrier to gene flow among Pyrenean populations. These preliminary data could be helpful for the understanding of the present distribution of mitochondrial DNA haplogroups in Iberian Peninsula and its phylogeny. ß

Quaternary Geochronology, 2014

Journal of forensic sciences, 2002

Specimens were collected from unrelated apparently healthy males, blood donors from Equatorial Gu... more Specimens were collected from unrelated apparently healthy males, blood donors from Equatorial Guinea (Central Africa). DNA was extracted from blood specimens using a bloodclean DNA purification Kit (Biotools) and typed in an ALF-Sequencer (Pharmacia). DYS19 alleles were determined according to protocols and allelic ladders kindly supplied by Peter de Knijff (1). Primers for DYS389I and DYS389II were synthetized according to Schultes et al. (2). PCR conditions for these two systems were modified as follows: a first denaturation step at 94ºC 3 min; 5 cycles of 94ºC 15s, 58ºC 20s, 72ºC 20s; 34 cycles of 94ºC 15s, 54ºC 20s, 72ºC 20s. Amplification products were typed with allelic ladders from our laboratory. Frequencies were calculated for all the systems through the gene counting method and gene diversity was estimated according to Nei (3).

This work aims to establish the genetic relationship between the different settlers of Eastern Sp... more This work aims to establish the genetic relationship between the different settlers of Eastern Spain and also to determine the conditions of DNA preservation. We studied two overlapping sequences (16,126–16,251 and 16,256–16,369) from mitochondrial HVR-I in 37 bone and teeth samples from 17 archaeological sites of Spanish Levant. Consistence of the results was established by repeated replication of amplifications. Approximately, 50% of the samples yielded reproducible results. The high efficiency in DNA recovery indicates that sample preservation mainly depends on the depositional environment rather than on sample age. Haplogroup V, an alleged marker of Paleolithic newcomers in Europe, has been found in an unusual elevated frequency (1 Calcolithic and 2 Iberian samples). This result could suggest a more southern distribution of Palaeolithic ice refugia. Moreover, we found Haplogroup L in Calcolithic samples. This may suggest the presence of a prehistoric African genetic background in eastern Iberia.

We evaluated the influence of different factors over the efficiency of DNA amplification and PCR ... more We evaluated the influence of different factors over the efficiency of DNA amplification and PCR inhibition from 89 archaeological samples. We studied the effect of sample age and location together with some macroscopic features, like sample colour and fragmentation. Four different extraction methods were also tested and mtDNA HVRI was amplified and sequenced. Amplification and sequencing efficiencies were evaluated considering all the variables mentioned by a bivariate statistical analysis using SPSS 15.0 software. Results suggested that neither age nor macroscopic preservation had a direct effect on the recovery of endogenous DNA, while sample origin showed to influence significantly extraction and amplification successes. Moreover, the extraction method employed seemed to be a determining factor, influencing both inhibition and efficiency. An overall analysis of the results identified a silica-based protocol as the most efficient method for extracting DNA from archaeological material.

Forensic Science …, Jan 1, 2009

We evaluate the usefulness of MiniFiler™ Kit in the field of ancient DNA. A set of samples belong... more We evaluate the usefulness of MiniFiler™ Kit in the field of ancient DNA. A set of samples belonging to different locations from Iberian Peninsula, with ages ranging from Neolithic to XVII century, was tested. Results could be replicated in only one burial site, probably due to the taphonomic conditions. Other cases could only produce partial or none genetic profiles.

Forensic Science International: Genetics Supplement Series, 2008

We analyze a sample of Y-chromosomes of 86 Bolivians of Beni department (Northern Bolivia). A dat... more We analyze a sample of Y-chromosomes of 86 Bolivians of Beni department (Northern Bolivia). A database of Y-STRs frequencies was constructed with a total of 12 South American samples plus our population. Y-STR structure of the database reveals the degree of differentiation of our sample and the close relatedness of most of the populations considered. Differences can be due in part to the low level of admixture with European Y-chromosomes. #

PLoS Genetics, 2013

Numerous studies of human populations in Europe and Asia have revealed a concordance between thei... more Numerous studies of human populations in Europe and Asia have revealed a concordance between their extant genetic structure and the prevailing regional pattern of geography and language. For native South Americans, however, such evidence has been lacking so far. Therefore, we examined the relationship between Y-chromosomal genotype on the one hand, and male geographic origin and linguistic affiliation on the other, in the largest study of South American natives to date in terms of sampled individuals and populations. A total of 1,011 individuals, representing 50 tribal populations from 81 settlements, were genotyped for up to 17 short tandem repeat (STR) markers and 16 single nucleotide polymorphisms (Y-SNPs), the latter resolving phylogenetic lineages Q and C. Virtually no structure became apparent for the extant Ychromosomal genetic variation of South American males that could sensibly be related to their inter-tribal geographic and linguistic relationships. This continent-wide decoupling is consistent with a rapid peopling of the continent followed by long periods of isolation in small groups. Furthermore, for the first time, we identified a distinct geographical cluster of Y-SNP lineages C-M217 (C3*) in South America. Such haplotypes are virtually absent from North and Central America, but occur at high frequency in Asia. Together with the locally confined Y-STR autocorrelation observed in our study as a whole, the available data therefore suggest a late introduction of C3* into South America no more than 6,000 years ago, perhaps via coastal or trans-Pacific routes. Extensive simulations revealed that the observed lack of haplogroup C3* among extant North and Central American natives is only compatible with low levels of migration between the ancestor populations of C3* carriers and non-carriers. In summary, our data highlight the fact that a pronounced correlation between genetic and geographic/cultural structure can only be expected under very specific conditions, most of which are likely not to have been met by the ancestors of native South Americans.

International Journal of Legal Medicine, 2015

The aim of this study was to estimate the allelic frequencies of the 15 short tandem repeat (STR)... more The aim of this study was to estimate the allelic frequencies of the 15 short tandem repeat (STR) loci included in AmpFlSTR®Identifiler® PCR Amplification Kit. Biological samples were obtained from 109 unrelated individuals from El Salvador. Allelic frequencies and forensic parameters were calculated. All loci showed no departure from Hardy-Weinberg equilibrium after Bonferroni correction. The obtained frequencies were compared with other previously reported population data. The multidimensional scaling plot and the neighbor-joining phylogeny supported a high native Mesoamerican contribution.

Del neolític a l’edat del bronze en el Mediterrani occidental. Estudis en homenatge a Bernat Martí Oliver. TV SIP 119, València, 2016

Together with the publication of new tombs and radiocarbon dates from the Early Neolithic, an ana... more Together with the publication of new tombs and radiocarbon dates from the Early Neolithic, an analysis is made about the complete catalogue of graves known of this chronology in the interior of the Iberian Peninsula and the Ebro Valley: the structure of the tomb used, the nature of the burial deposition, the sex and age of the individuals, the grave offerings (presence or absence) as well as the position and orientation of the deceased inside the grave. The aim is to show a general overview of the burial evidences of the first farmers in this region.

Revista Argentina De Antropologia Biologica, 2007

Lvcentvm, 2006

Resumen. La presencia de restos humanos de personas adultas en el yacimiento ibérico del Puig de ... more Resumen. La presencia de restos humanos de personas adultas en el yacimiento ibérico del Puig de la Nau de Benicarló, ha permitido la identificación del ADNmt correspondiente, a través del cual se ha constatado la pertenencia de los individuos analizados al haplogrupo V que se encuentra actualmente en el País Vasco y en Escandinavia.

Antiquitas, 2008

Priego de Córdoba). Cazadores recolectores del Paleolítico Superior en la sierra Subbética ANTIQV... more Priego de Córdoba). Cazadores recolectores del Paleolítico Superior en la sierra Subbética ANTIQVITAS -2008 -N.º 20 (pp. 213-221) -M.H.M. Priego de Córdoba La investigación sobre El Pirulejo. Una aproximación interdisciplinar The research about the El Pirulejo. An interdisciplinary approach MIGUEL CORTÉS SÁNCHEZ, FRANCISCO JOSÉ JIMÉNEZ ESPEJO, MARÍA DOLORES SIMÓN VALLEJO, JOSÉ ANTONIO LÓPEZ SÁEZ, JOSÉ ANTONIO RIQUELME CANTAL, EVA FERNÁNDEZ DOMÍNGUEZ, FRANCISCA MARTÍNEZ RUIZ, EVA PRATS MIRAVITLLAS, EDUARDO ARROYO, ALEJANDRO PÉREZ-PÉREZ, DANIEL TURBÓN BORREGA, LOURDES LÓPEZ MERINO y SEBASTIÁN PÉREZ DÍAZ

Journal of Forensic Sciences

BMC Genetics, 2015

Background: One of the most important dietary shifts underwent by human populations began to occu... more Background: One of the most important dietary shifts underwent by human populations began to occur in the Neolithic, during which new modes of subsistence emerged and new nutrients were introduced in diets. This change might have worked as a selective pressure over the metabolic pathways involved in the breakdown of substances extracted from food. Here we applied a candidate gene approach to investigate whether in populations with different modes of subsistence, diet-related genetic adaptations could be identified in the genes AGXT, PLRP2, MTRR, NAT2 and CYP3A5. Results: At CYP3A5, strong signatures of positive selection were detected, though not connected to any dietary variable, but instead to an environmental factor associated with the Tropic of Cancer. Suggestive signals of adaptions that could indeed be connected with differences in dietary habits of populations were only found for PLRP2 and NAT2. Contrarily, the demographic history of human populations seemed enough to explain patterns of diversity at AGXT and MTRR, once both conformed the evolutionary expectations under selective neutrality.

Short Tandem Repeat polymorphisms have been widely studied in the world, since specific databases... more Short Tandem Repeat polymorphisms have been widely studied in the world, since specific databases are required to produce correct estimates of forensic statistical parameters. In this regard, Y-chromosome STRs have been studied mainly in Europe but are relatively scarce for sub-Saharan populations, despite these populations are represented in most of the Western countries. The aim of this work is to detect groups of populations with the lowest genetic variability within the African context. This allows to establish the relative homogeneity of Y-STRs databases for forensic casework and eventually to provide a wider insight into the African genetic history. #

Nature Communications, 2015

The proportion of Europeans descending from Neolithic farmers B10 thousand years ago (KYA) or Pal... more The proportion of Europeans descending from Neolithic farmers B10 thousand years ago (KYA) or Palaeolithic hunter-gatherers has been much debated. The male-specific region of the Y chromosome (MSY) has been widely applied to this question, but unbiased estimates of diversity and time depth have been lacking. Here we show that European patrilineages underwent a recent continent-wide expansion. Resequencing of 3.7 Mb of MSY DNA in 334 males, comprising 17 European and Middle Eastern populations, defines a phylogeny containing 5,996 single-nucleotide polymorphisms. Dating indicates that three major lineages (I1, R1a and R1b), accounting for 64% of our sample, have very recent coalescent times, ranging between 3.5 and 7.3 KYA. A continuous swathe of 13/17 populations share similar histories featuring a demographic expansion starting B2.1-4.2 KYA. Our results are compatible with ancient MSY DNA data, and contrast with data on mitochondrial DNA, indicating a widespread male-specific phenomenon that focuses interest on the social structure of Bronze Age Europe.

Mol Biol Evol, 2014

Many studies of human populations have used the male-specific region of the Y chromosome (MSY) as... more Many studies of human populations have used the male-specific region of the Y chromosome (MSY) as a marker, but MSY sequence variants have traditionally been subject to ascertainment bias. Also, dating of haplogroups has relied on Y-specific short tandem repeats (STRs), involving problems of mutation rate choice, and possible long-term mutation saturation. Next-generation sequencing can ascertain single nucleotide polymorphisms (SNPs) in an unbiased way, leading to phylogenies in which branch-lengths are proportional to time, and allowing the times-to-most-recent-common-ancestor (TMRCAs) of nodes to be estimated directly. Here we describe the sequencing of 3.7 Mb of MSY in each of 448 human males at a mean coverage of 51 ×, yielding 13,261 high-confidence SNPs, 65.9% of which are previously unreported. The resulting phylogeny covers the majority of the known clades, provides date estimates of nodes, and constitutes a robust evolutionary framework for analysing the history of other classes of mutation. Different clades within the tree show subtle but significant differences in branch lengths to the root. We also apply a set of 23 Y-STRs to the same samples, allowing SNP-and STR-based diversity and TMRCA estimates to be systematically compared. Ongoing purifying selection is suggested by our analysis of the phylogenetic distribution of non-synonymous variants in 15 MSY single-copy genes. by guest on December 3, 2014 http://mbe.oxfordjournals.org/ Downloaded from by guest on December 3, 2014 http://mbe.oxfordjournals.org/ Downloaded from

Forensic Science International: Genetics Supplement Series, 2011

Mitochondrial DNA sequences of the two hypervariable regions HVS-I and HVS-II were determined for... more Mitochondrial DNA sequences of the two hypervariable regions HVS-I and HVS-II were determined for 233 unrelated autochthonous individuals from East, Central and West Pyrenees. Resulting haplogroups were confirmed with RFLPs. Although the distribution of mitochondrial DNA haplogroups in the Pyrenees presents differences between populations, the results obtained may well support the hypothesis that the mountain chain did not act as a barrier to gene flow among Pyrenean populations. These preliminary data could be helpful for the understanding of the present distribution of mitochondrial DNA haplogroups in Iberian Peninsula and its phylogeny. ß

Quaternary Geochronology, 2014

Journal of forensic sciences, 2002

Specimens were collected from unrelated apparently healthy males, blood donors from Equatorial Gu... more Specimens were collected from unrelated apparently healthy males, blood donors from Equatorial Guinea (Central Africa). DNA was extracted from blood specimens using a bloodclean DNA purification Kit (Biotools) and typed in an ALF-Sequencer (Pharmacia). DYS19 alleles were determined according to protocols and allelic ladders kindly supplied by Peter de Knijff (1). Primers for DYS389I and DYS389II were synthetized according to Schultes et al. (2). PCR conditions for these two systems were modified as follows: a first denaturation step at 94ºC 3 min; 5 cycles of 94ºC 15s, 58ºC 20s, 72ºC 20s; 34 cycles of 94ºC 15s, 54ºC 20s, 72ºC 20s. Amplification products were typed with allelic ladders from our laboratory. Frequencies were calculated for all the systems through the gene counting method and gene diversity was estimated according to Nei (3).

This work aims to establish the genetic relationship between the different settlers of Eastern Sp... more This work aims to establish the genetic relationship between the different settlers of Eastern Spain and also to determine the conditions of DNA preservation. We studied two overlapping sequences (16,126–16,251 and 16,256–16,369) from mitochondrial HVR-I in 37 bone and teeth samples from 17 archaeological sites of Spanish Levant. Consistence of the results was established by repeated replication of amplifications. Approximately, 50% of the samples yielded reproducible results. The high efficiency in DNA recovery indicates that sample preservation mainly depends on the depositional environment rather than on sample age. Haplogroup V, an alleged marker of Paleolithic newcomers in Europe, has been found in an unusual elevated frequency (1 Calcolithic and 2 Iberian samples). This result could suggest a more southern distribution of Palaeolithic ice refugia. Moreover, we found Haplogroup L in Calcolithic samples. This may suggest the presence of a prehistoric African genetic background in eastern Iberia.

We evaluated the influence of different factors over the efficiency of DNA amplification and PCR ... more We evaluated the influence of different factors over the efficiency of DNA amplification and PCR inhibition from 89 archaeological samples. We studied the effect of sample age and location together with some macroscopic features, like sample colour and fragmentation. Four different extraction methods were also tested and mtDNA HVRI was amplified and sequenced. Amplification and sequencing efficiencies were evaluated considering all the variables mentioned by a bivariate statistical analysis using SPSS 15.0 software. Results suggested that neither age nor macroscopic preservation had a direct effect on the recovery of endogenous DNA, while sample origin showed to influence significantly extraction and amplification successes. Moreover, the extraction method employed seemed to be a determining factor, influencing both inhibition and efficiency. An overall analysis of the results identified a silica-based protocol as the most efficient method for extracting DNA from archaeological material.

Forensic Science …, Jan 1, 2009

We evaluate the usefulness of MiniFiler™ Kit in the field of ancient DNA. A set of samples belong... more We evaluate the usefulness of MiniFiler™ Kit in the field of ancient DNA. A set of samples belonging to different locations from Iberian Peninsula, with ages ranging from Neolithic to XVII century, was tested. Results could be replicated in only one burial site, probably due to the taphonomic conditions. Other cases could only produce partial or none genetic profiles.

Forensic Science International: Genetics Supplement Series, 2008

We analyze a sample of Y-chromosomes of 86 Bolivians of Beni department (Northern Bolivia). A dat... more We analyze a sample of Y-chromosomes of 86 Bolivians of Beni department (Northern Bolivia). A database of Y-STRs frequencies was constructed with a total of 12 South American samples plus our population. Y-STR structure of the database reveals the degree of differentiation of our sample and the close relatedness of most of the populations considered. Differences can be due in part to the low level of admixture with European Y-chromosomes. #

PLoS Genetics, 2013

Numerous studies of human populations in Europe and Asia have revealed a concordance between thei... more Numerous studies of human populations in Europe and Asia have revealed a concordance between their extant genetic structure and the prevailing regional pattern of geography and language. For native South Americans, however, such evidence has been lacking so far. Therefore, we examined the relationship between Y-chromosomal genotype on the one hand, and male geographic origin and linguistic affiliation on the other, in the largest study of South American natives to date in terms of sampled individuals and populations. A total of 1,011 individuals, representing 50 tribal populations from 81 settlements, were genotyped for up to 17 short tandem repeat (STR) markers and 16 single nucleotide polymorphisms (Y-SNPs), the latter resolving phylogenetic lineages Q and C. Virtually no structure became apparent for the extant Ychromosomal genetic variation of South American males that could sensibly be related to their inter-tribal geographic and linguistic relationships. This continent-wide decoupling is consistent with a rapid peopling of the continent followed by long periods of isolation in small groups. Furthermore, for the first time, we identified a distinct geographical cluster of Y-SNP lineages C-M217 (C3*) in South America. Such haplotypes are virtually absent from North and Central America, but occur at high frequency in Asia. Together with the locally confined Y-STR autocorrelation observed in our study as a whole, the available data therefore suggest a late introduction of C3* into South America no more than 6,000 years ago, perhaps via coastal or trans-Pacific routes. Extensive simulations revealed that the observed lack of haplogroup C3* among extant North and Central American natives is only compatible with low levels of migration between the ancestor populations of C3* carriers and non-carriers. In summary, our data highlight the fact that a pronounced correlation between genetic and geographic/cultural structure can only be expected under very specific conditions, most of which are likely not to have been met by the ancestors of native South Americans.

International Journal of Legal Medicine, 2015

The aim of this study was to estimate the allelic frequencies of the 15 short tandem repeat (STR)... more The aim of this study was to estimate the allelic frequencies of the 15 short tandem repeat (STR) loci included in AmpFlSTR®Identifiler® PCR Amplification Kit. Biological samples were obtained from 109 unrelated individuals from El Salvador. Allelic frequencies and forensic parameters were calculated. All loci showed no departure from Hardy-Weinberg equilibrium after Bonferroni correction. The obtained frequencies were compared with other previously reported population data. The multidimensional scaling plot and the neighbor-joining phylogeny supported a high native Mesoamerican contribution.

Pharmacological Research, 2009

Objective: To evaluate the frequency of CYP2C9 polymorphisms in a cohort of Caucasians (Spanish P... more Objective: To evaluate the frequency of CYP2C9 polymorphisms in a cohort of Caucasians (Spanish Pyrenees), previously classified in autochthonous populations. Methods: Blood samples from 154 anonymous volunteer donors were collected. All the individuals were autochthonous to their respective populations (four grandparents born in the region): 23 from Valle de Arán (Lérida), 29 from Alto Urgel (Lérida), 32 from La Cerdaña (Gerona), 30 from Jacetania (Huesca) and 40 from Cinco Villas (Navarra). The analyses for allelic mutation, CYP2C9*2 and CYP2C9*3, were identified with Taqman® Allelic Discrimination kits. Results: No statistical differences were found when allelic frequencies in the five autochthonous populations were compared. Frequency distribution of genotypic classes (wt/wt, wt/mut and mut/mut) in Alto Urgel was different from that in La Cerdaña, Cinco Villas and Jacetania samples. Comparison of Pyrenean and other European populations through exact test revealed significant differences in the distribution of genotypic classes: Alto Urgel, Barcelona, and Croatia yielded the highest significant differences. According to the exact test these populations were pooled in four groups. This classification produced a statistically significant percentage of variation explained by differences among groups (1.94%, P= 0.036), but not by differences among populations within groups (P = 0.914), although most of the percentage of variance is explained by differences within populations (97.46%, P < 0.001). Conclusion: This study increases the evidence of intra-population genotypic variability and highlights the significant genotypic heterogeneity when different autochthonous populations are considered, despite no clear differences in allelic frequencies do exist.