Detection of the A189G mtDNA heteroplasmic mutation in relation to age in modern and ancient bones.

International audienceThe aim of this study was to demonstrate the presence of the A189G age-related point mutation on DNA extracted from bone. For this, a peptide nucleic acid (PNA)/DNA sequencing method which can determine an age threshold for the appearance of the mutation was used. Initially, work was done in muscle tissue in order to evaluate the sensitivity of the technique and afterwards in bone samples from the same individuals. This method was also applied to ancient bones from six well-preserved skeletal remains. The mutation was invariably found in muscle, and at a rate of up to 20% in individuals over 60 years old. In modern bones, the mutation was detected in individuals aged 38 years old or more, at a rate of up to 1%, but its occurrence was not systematic (only four out of ten of the individuals over 50 years old carried the heteroplasmy). For ancient bones, the mutation was also found in the oldest individuals according to osteologic markers. The study of this type of age-related mutation and a more complete understanding of its manifestation has potentially useful applications. Combined with traditional age markers, it could improve identification accuracy in forensic cases or in anthropological studies of ancient populations

L’analyse du chromosome Y

Malgré des difficultés initiales dans l’identification de polymorphismes génétiques de la partie non recombinante du chromosome Y humain, un grand nombre de marqueurs polymorphes sont aujourd’hui disponibles pour établir des haplotypes ou haplogroupes caractéristiques d’individus ou de populations. Parmi ces marqueurs figurent les STR (Short Tandem Repeats) du chromosome Y, largement utilisés au cours des dernières années pour étudier l’évolution de l’Homme et identifier des individus ou des filiations en médecine légale. Après un bref rappel des particularités de ces marqueurs, nous présentons certaines des applications du typage génétique du chromosome Y

Nuclear and Mitochondrial DNA Analysis of a 2,000-Year-Old Necropolis in the Egyin Gol Valley of Mongolia

DNA was extracted from the skeletal remains of 62 specimens excavated from the Egyin Gol necropolis, in northern Mongolia. This burial site is linked to the Xiongnu period and was used from the 3rd century b.c. to the 2nd century a.d. Three types of genetic markers were used to determine the genetic relationships between individuals buried in the Egyin Gol necropolis. Results from analyses of autosomal and Y chromosome short tandem repeats, as well as mitochondrial DNA, showed close relationships between several specimens and provided additional background information on the social organization within the necropolis as well as the funeral practices of the Xiongnu people. To the best of our knowledge, this is the first study using biparental, paternal, and maternal genetic systems to reconstruct partial genealogies in a protohistoric necropolis

French allele frequencies and haplotypes of nine Y-specific STRs.

International audienc

Populations anciennes et ADN ancien: état actuel de la question

International audienceLes possibilités offertes par la biologie moléculaire dans le domaine de l'anthropologie sont aujourd'hui largement reconnues. Après un rappel très succinct des marqueurs utilisés pour étudier l'ADN extrait de tissus anciens, cet article cherche à souligner les limites et les difficultés inhérentes à l'analyses de molécules dégradées et se propose de faire le point sur l'intérêt d'une approche moléculaire en anthropologie au travers d'exemples issus de la littérature

Populations anciennes et ADN ancien: état actuel de la question

International audienceLes possibilités offertes par la biologie moléculaire dans le domaine de l'anthropologie sont aujourd'hui largement reconnues. Après un rappel très succinct des marqueurs utilisés pour étudier l'ADN extrait de tissus anciens, cet article cherche à souligner les limites et les difficultés inhérentes à l'analyses de molécules dégradées et se propose de faire le point sur l'intérêt d'une approche moléculaire en anthropologie au travers d'exemples issus de la littérature

STR-genotyping from human medieval tooth and bone samples

International audienceWe extracted the DNA contained in samples of bones and teeth from 10 skeletons excavated from the Gravette site (400-1000 AD, south of France). Ancient DNA was analysed by autosomal short tandem repeats (STRs). The DNA present in these ancient remains appeared very degraded, but nevertheless, better conserved in tooth than in bone samples. Moreover, we showed that the DNA extracted from ancient dental pulp was not exempt from polymerase chain reaction (PCR) inhibitors, which could result from extreme DNA fragmentation. An adapted protocol with a supplementary step of purification removed this inhibition

Population origins in Mongolia: genetic structure analysis of ancient and modern DNA

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Early influence of the steppe tribes in the peopling of Siberia

The Yakuts, Middle Age Turkic speakers (15th–16th centuries), are widely accepted as the first settlers of the Altai-Baikal area in eastern Siberia. They are supposed to have introduced horses and developed metallurgy in this geographic area during the 15th or 16th century a.d. The analysis of the Siberian grave of Pokrovsk, recently discovered near the Lena River (61 29 N) and dated by accelerator mass spectrometry from 2,400 to 2,200 years b.p., may provide new elements to test this hypothesis. The exceptional combination of various artifacts and the mitochondrial DNA data extracted from the bone remains of the Pokrovsk man might prove the existence of previous contacts between autochthonous hunters of Oriental Siberia and the nomadic horse breeders from the Altai-Baikal area (Mongolia and Buryatia). Indeed, the stone arrowhead and the harpoons relate this Pokrovsk man to the traditional hunters of the Taiga. Some artifacts made of horse bone and the pieces of armor, however, are related to the tribes of Mongolia and Buryatia of the Xiongnu period (3rd century b.c.). This affinity has been confirmed by the match of the mitochondrial haplotype of this subject with a woman of the Egyin Gol necropolis (Mongolia, 2nd/3rd century a.d.) as well as with two modern Buryats. This result allows us to postulate that contacts between southern steppe populations and Siberian tribes occurred before the 15th century