Papers by Marc Simón Martínez
En aquesta tesis hem analitzat diferents questions antropologiques usant l'ADN de poblacions ... more En aquesta tesis hem analitzat diferents questions antropologiques usant l'ADN de poblacions antigues de Catalunya i Balears. Primer, hem intentat millorar la nostra metodologia aplicant un protocol diferent en l'estudi d'un jaciment que inesperadament havia proporcionat resultats escassos. Hem vist que sota algunes circumstancies el canvi del nostre protocol usant fenol-cloroform pel del kit QIAamp DNA investigator que usa l'afinitat de les particules de silica es positiu i millora significativament els resultats, encara que sembla que el metode optim pot variar en cada cas i que s'hauria de fer una valoracio especifica per decidir el protocol mes adequat. Seguidament, hem volgut anar fer l'analisi de les relacions intrapoblacionals en grups enterrats en comu per a examinar el paper de les families nuclears en l'antiguitat. Vam examinar una cova sepulcral amb multiples individus de Catalunya de finals de l'Edat del Bronze, i vam comprovar que la hipo...
Quaternary International, 2000
The site from La Cova des Pas, located in Menorca, is a funerary cave with a collective burial da... more The site from La Cova des Pas, located in Menorca, is a funerary cave with a collective burial dating from the Late Bronze Age. This cave presents a good conservation of the remains of both humans and other organic elements. In spite of the good preservation, the first DNA amplification tests showed a low amplification success rate, probably owing to
En el presente artículo se estudian las características genéticas de la población del yacimiento ... more En el presente artículo se estudian las características genéticas de la población del yacimiento talayótico de la Cova des Pas, que revelan una importante endogamia a nivel de ADN mitocondrial. La comparación con otras series contemporáneas de las Islas Baleares permite hipotetizar la existencia de grupos cerrados, con limitados linajes femeninos y necrópolis de difícil acceso, como esta. Tales comunidades contrastarían con otras más abiertas con un mayor intercambio de linajes femeninos situados en las zonas llanas centrales de Menorca.
Objectives
To determine ancient population influences on ancient and current Balearic populations... more Objectives
To determine ancient population influences on ancient and current Balearic populations and to reconstruct their mitochondrial DNA (mtDNA) gene pool evolution.
Methods
We analyzed 239 individuals belonging to five archaeological populations from Majorca and Minorca, four dating to the transition between the Bronze Age and the Iron Age, and one Late Roman Majorcan population. Six additional individuals from Santa Teresa di Gallura from the Nuragic period were characterized and added to the existing samples from that culture to make comparisons with Talaiotic populations.
Results
We characterized the haplogroups of 138 individuals and obtained 69 sequences from mtDNA hypervariable region I. In the intra-island study, the apparent differences in social and funerary rites between two contiguous Majorcan necropolises were correlated with genetic characteristics. Also, the likely occurrence of consanguinity in a population with a very particular burial pattern was supported by genetic data. Despite the uniqueness of each necropolis, the global comparison of the five necropolises revealed no significant differences between them, or between ancient and modern populations from the islands. Ancient Balearics showed a similar mtDNA gene pool to Ancient Catalans, had a Near Eastern component, and showed continuity with European populations since at least the Bronze Age.
Conclusion
We characterized five Balearic necropolises in the context of their geographic and cultural characteristics. The similarity between ancient Balearic and ancient Catalan gene pools reinforces their known historic interactions, while the lack of a consistent genetic continuity with Ancient Sardinians suggests that Talaiotic and Nuragic cultures arose in differentiated populations.
A recent discovery of Iron Age burials (Pazyryk culture) in the Altai Mountains of Mongolia may s... more A recent discovery of Iron Age burials (Pazyryk culture) in the Altai Mountains of Mongolia may shed light on the mode and tempo of the generation of the current genetic east-west population admixture in Central Asia. Studies on ancient mitochondrial DNA of this region suggest that the Altai Mountains played the role of a geographical barrier between West and East Eurasian lineages until the beginning of the Iron Age. After the 7th century BC, coinciding with Scythian expansion across the Eurasian steppes, a gradual influx of East Eurasian sequences in Western steppes is detected. However, the underlying events behind the genetic admixture in Altai during the Iron Age are still unresolved: 1) whether it was a result of migratory events (eastward firstly, westward secondly), or 2) whether it was a result of a local demographic expansion in a 'contact zone' between European and East Asian people. In the present work, we analyzed the mitochondrial DNA lineages in human remains from Bronze and Iron Age burials of Mongolian Altai. Here we present support to the hypothesis that the gene pool of Iron Age inhabitants of Mongolian Altai was similar to that of western Iron Age Altaians (Russia and Kazakhstan). Thus, this people not only shared the same culture (Pazyryk), but also shared the same genetic east-west population admixture. In turn, Pazyryks appear to have a similar gene pool that current Altaians. Our results further show that Iron Age Altaians displayed mitochondrial lineages already present around Altai region before the Iron Age. This would provide support for a demographic expansion of local people of Altai instead of westward or eastward migratory events, as the demographic event behind the high population genetic admixture and diversity in Central Asia.
An 84 base pair sequence of the Streptococcus mutans virulence factor, known as dextranase, has b... more An 84 base pair sequence of the Streptococcus mutans virulence factor, known as dextranase, has been obtained from 10 individuals from the Bronze Age to the Modern Era in Europe and from before and after the colonization in America. Modern samples show four polymorphic sites that have not been found in the ancient samples studied so far. The nucleotide and haplotype diversity of this region have increased over time, which could be reflecting the footprint of a population expansion. While this segment has apparently evolved according to neutral evolution, we have been able to detect one site that is under positive selection pressure both in present and past populations. This study is a first step to study the evolution of this microorganism, analysed using direct evidence obtained from ancient remains.
A recent discovery of Iron Age burials (Pazyryk culture) in the Altai Mountains of Mongolia may s... more A recent discovery of Iron Age burials (Pazyryk culture) in the Altai Mountains of Mongolia may shed light on the mode and tempo of the generation of the current genetic east-west population admixture in Central Asia. Studies on ancient mitochondrial DNA of this region suggest that the Altai Mountains played the role of a geographical barrier between West and East Eurasian lineages until the beginning of the Iron Age. After the 7th century BC, coinciding with Scythian expansion across the Eurasian steppes, a gradual influx of East Eurasian sequences in Western steppes is detected. However, the underlying events behind the genetic admixture in Altai during the Iron Age are still unresolved: 1) whether it was a result of migratory events (eastward firstly, westward secondly), or 2) whether it was a result of a local demographic expansion in a 'contact zone' between European and East Asian people. In the present work, we analyzed the mitochondrial DNA lineages in human remains from Bronze and Iron Age burials of Mongolian Altai. Here we present support to the hypothesis that the gene pool of Iron Age inhabitants of Mongolian Altai was similar to that of western Iron Age Altaians (Russia and Kazakhstan). Thus, this people not only shared the same culture (Pazyryk), but also shared the same genetic east-west population admixture. In turn, Pazyryks appear to have a similar gene pool that current Altaians. Our results further show that Iron Age Altaians displayed mitochondrial lineages already present around Altai region before the Iron Age. This would provide support for a demographic expansion of local people of Altai instead of westward or eastward migratory events, as the demographic event behind the high population genetic admixture and diversity in Central Asia.
Ancient populations have commonly been thought to have lived in small groups where extreme endoga... more Ancient populations have commonly been thought to have lived in small groups where extreme endogamy was the norm. To contribute to this debate, a genetic analysis has been carried out on a collective burial with eight primary inhumations from Montanissell Cave in the Catalan pre-Pyrenees. Radiocarbon dating clearly placed the burial in the Bronze Age, around 3200 BP. The composition of the group-two adults (one male, one female), one young woman, and five children from both sexes-seemed to represent the structure of a typical nuclear family. The genetic evidence proves this assumption to be wrong. In fact, at least five out of the eight mitochondrial haplotypes were different, denying the possibil-Additional Supporting Information may be found in the online version of this article.
The site from La Cova des Pas, located in Menorca, is a funerary cave with a collective burial da... more The site from La Cova des Pas, located in Menorca, is a funerary cave with a collective burial dating from the Late Bronze Age. This cave presents a good conservation of the remains of both humans and other organic elements. In spite of the good preservation, the first DNA amplification tests showed a low amplification success rate, probably owing to the presence of substances from the process of decomposition of the bodies and substances of the soil present in the samples. To overcome this problem, 41 samples were processed by means of two different extraction methods, following sterility criteria used in ancient DNA research. Two fragments of different sizes of mitochondrial DNA were amplified in order to evaluate the success rate of both methods. The results did not show a statistically significant better recovery of DNA from either teeth or bones. For the length of the retrieved DNA, the recovery was significantly better with the QIAamp kit procedure than with the phenolechloroform method.
Meeting Proceedings by Marc Simón Martínez
In the genetic characterisation of the individuals from
la Cova des Pas (Bronze Age, Minorca) th... more In the genetic characterisation of the individuals from
la Cova des Pas (Bronze Age, Minorca) the phenolcloroform
(PC) method gave poor results in terms of
sample recovery, with a 40% rate of success. To
solve this problem, the forensic kit QIAamp DNA
investigator was applied, improving this value to a
64%. This fact proves that each site has to be
considered on its own, as the substances present in
every one of them can differently affect the PCR
efficiency. While the PC method continues to be the
most widely-used method in DNA extraction, there
are compelling evidences that it is not always the best
procedure. Another proof that PCR inhibitors were
present in this site is that 3 samples saw their results
highly improved when its concentration was diluted
1/50. Testing each site seems the most reasonable
way of proceeding, as there is not a universal method
which can be carried out with the highest success for
all the samples.
We have amplified DNA from Streptococcus mutans from 6 individuals of different antiquity belongi... more We have amplified DNA from Streptococcus mutans from 6 individuals of different antiquity belonging to the variable region of the dextranase gene and from the European and American continents with the purpose of characterizing the possible geographic and temporary differences that can reflect their evolution and adaptation to its human host. It has been possible to obtain a sample belonging to the Bronze Age in Catalonia. The sample size is not enough to draw significant conclusions, even though it can be observed that position 367 was already polymorphic before the contact between the two continents and it seems that citosine was the ancestral nucleotide at position 437.
Books by Marc Simón Martínez
Methods to recover genetic material with the best possible quality have been improving in a simil... more Methods to recover genetic material with the best possible quality have been improving in a similar way to the other areas in this field, culminating with the obtention of the first complete ancient mitogenome in 2001. However, with the arrival of next-generation sequencing in 2005, all these advances can be considered overcome. Using shotgun sequencing as basis and specially-designed microbeads to attach DNA, the advent of the palaeogenomics era has revolutionized the field. Also the enrichment techniques and the growing knowledge of ancient DNA diagenesis add significant achievements, but then again the roof of this technology has yet to be attained.
From the establishment of a first set of authenticity criteria to their progressive improvement i... more From the establishment of a first set of authenticity criteria to their progressive improvement in parallel with this field’s technology advances, the fight to overcome contamination has not ceased over the years. On its part, another problem at the time of recovering ancient genetic material can be caused by properties which may be inherent to the samples, as well as by their interaction with the elements where they are located. A summary from the evolution in these factors’ knowledge and the solutions that scientists have given them before the arrival of next-generation sequencing techniques is provided. Finally, a thorough description of the tissues from which ancient genetic material is recovered and the developments to do so from different source organisms is provided.
Since the arrival of the technology that permitted to recover and study ancient genetic material ... more Since the arrival of the technology that permitted to recover and study ancient genetic material 30 years ago, its success has enjoyed steady growth, providing answers to a huge variety of fields, from personal identification to a better understanding of ancient human behavior, as well as the intricated evolution of our species or the recovery of genetic material from extinct ones. However, this field has also been accompanied by some handicaps which have complicated its improvement, as the damage that the individuals may have suffered over time and most notoriously contamination. A brief synthesis of the principal landmarks in this field’s history and the steps taken to overcome these problems are exposed in detail.
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Papers by Marc Simón Martínez
To determine ancient population influences on ancient and current Balearic populations and to reconstruct their mitochondrial DNA (mtDNA) gene pool evolution.
Methods
We analyzed 239 individuals belonging to five archaeological populations from Majorca and Minorca, four dating to the transition between the Bronze Age and the Iron Age, and one Late Roman Majorcan population. Six additional individuals from Santa Teresa di Gallura from the Nuragic period were characterized and added to the existing samples from that culture to make comparisons with Talaiotic populations.
Results
We characterized the haplogroups of 138 individuals and obtained 69 sequences from mtDNA hypervariable region I. In the intra-island study, the apparent differences in social and funerary rites between two contiguous Majorcan necropolises were correlated with genetic characteristics. Also, the likely occurrence of consanguinity in a population with a very particular burial pattern was supported by genetic data. Despite the uniqueness of each necropolis, the global comparison of the five necropolises revealed no significant differences between them, or between ancient and modern populations from the islands. Ancient Balearics showed a similar mtDNA gene pool to Ancient Catalans, had a Near Eastern component, and showed continuity with European populations since at least the Bronze Age.
Conclusion
We characterized five Balearic necropolises in the context of their geographic and cultural characteristics. The similarity between ancient Balearic and ancient Catalan gene pools reinforces their known historic interactions, while the lack of a consistent genetic continuity with Ancient Sardinians suggests that Talaiotic and Nuragic cultures arose in differentiated populations.
Meeting Proceedings by Marc Simón Martínez
la Cova des Pas (Bronze Age, Minorca) the phenolcloroform
(PC) method gave poor results in terms of
sample recovery, with a 40% rate of success. To
solve this problem, the forensic kit QIAamp DNA
investigator was applied, improving this value to a
64%. This fact proves that each site has to be
considered on its own, as the substances present in
every one of them can differently affect the PCR
efficiency. While the PC method continues to be the
most widely-used method in DNA extraction, there
are compelling evidences that it is not always the best
procedure. Another proof that PCR inhibitors were
present in this site is that 3 samples saw their results
highly improved when its concentration was diluted
1/50. Testing each site seems the most reasonable
way of proceeding, as there is not a universal method
which can be carried out with the highest success for
all the samples.
Books by Marc Simón Martínez
To determine ancient population influences on ancient and current Balearic populations and to reconstruct their mitochondrial DNA (mtDNA) gene pool evolution.
Methods
We analyzed 239 individuals belonging to five archaeological populations from Majorca and Minorca, four dating to the transition between the Bronze Age and the Iron Age, and one Late Roman Majorcan population. Six additional individuals from Santa Teresa di Gallura from the Nuragic period were characterized and added to the existing samples from that culture to make comparisons with Talaiotic populations.
Results
We characterized the haplogroups of 138 individuals and obtained 69 sequences from mtDNA hypervariable region I. In the intra-island study, the apparent differences in social and funerary rites between two contiguous Majorcan necropolises were correlated with genetic characteristics. Also, the likely occurrence of consanguinity in a population with a very particular burial pattern was supported by genetic data. Despite the uniqueness of each necropolis, the global comparison of the five necropolises revealed no significant differences between them, or between ancient and modern populations from the islands. Ancient Balearics showed a similar mtDNA gene pool to Ancient Catalans, had a Near Eastern component, and showed continuity with European populations since at least the Bronze Age.
Conclusion
We characterized five Balearic necropolises in the context of their geographic and cultural characteristics. The similarity between ancient Balearic and ancient Catalan gene pools reinforces their known historic interactions, while the lack of a consistent genetic continuity with Ancient Sardinians suggests that Talaiotic and Nuragic cultures arose in differentiated populations.
la Cova des Pas (Bronze Age, Minorca) the phenolcloroform
(PC) method gave poor results in terms of
sample recovery, with a 40% rate of success. To
solve this problem, the forensic kit QIAamp DNA
investigator was applied, improving this value to a
64%. This fact proves that each site has to be
considered on its own, as the substances present in
every one of them can differently affect the PCR
efficiency. While the PC method continues to be the
most widely-used method in DNA extraction, there
are compelling evidences that it is not always the best
procedure. Another proof that PCR inhibitors were
present in this site is that 3 samples saw their results
highly improved when its concentration was diluted
1/50. Testing each site seems the most reasonable
way of proceeding, as there is not a universal method
which can be carried out with the highest success for
all the samples.