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Eric Crubézy

Publications and source records attributed to Eric Crubézy.

15 recordsLinked to original sources
PubMed2007

Genetic studies in French Guiana populations: Synthesis.

Twelve blood group and protein systems from a total of 819 individuals from six tribal groups (Apalaí-Wayana, Emerillon, Kaliña, Palikur Wayampi, and Wayana) living in French Guiana and Brazil were compared with each other and integrated with previous results from 17 other South Amerindian populations studied for the same genetic markers. Using correspondence analysis, map methodologies, and maximum linkage cluster analysis developed with the UPGMA method, we attempted to establish the genetic position of these tribes among South American Indians. Peripheral positions for the Emerillon and the Palikur were observed. Ethnohistorical data in French Guiana suggest that a strong founder effect for the former and endogamy for the latter could have generated the genetic differentiation of these two ethnic groups. However, when considered in a wider context, all French Guiana Natives cluster together in an intermediate position as compared with 17 other Amerindian groups studied for the comparison.

Blood Group Antigens↗
PubMed2006

Molecular genetic analysis of 400-year-old human remains found in two Yakut burial sites.

The excavation of five frozen graves at the Sytygane Syhe and Istekh-Myrane burial sites (dated at 400 years old) in central Yakutia revealed five human skeletons belonging to the Yakut population. To investigate the origin and evolution of the Yakut population as well as the kinship system between individuals buried in these two sites, DNA was extracted from bone samples and analyzed by autosomal short tandem repeats (STRs) and by sequencing hypervariable region I (HV1) of the mitochondrial DNA (mtDNA) control region. The results showed a diversity of sepulchral organizations linked probably to the social or genetic background of the subjects. Comparison of STR profiles, mitochondrial haplotypes, and haplogroups with data from Eurasian populations indicated affinities with Asian populations and suggested a relative specificity and continuity of part of the Yakut mitochondrial gene pool during the last five centuries. Moreover, our results did not support a Central Asian (with the exception of maternal lineage of West Eurasian origin) or Siberian origin of the maternal lineages of these ancient Yakut subjects, implying an ethnogenesis of the Yakut population probably more complex than previously proposed.

Biological Evolution↗
PubMed2006

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

In the present study, nuclear (autosomal and Y-chromosome short tandem repeats) and mitochondrial (hypervariable region I) ancient DNA data previously obtained from a 2,300-year-old Xiongnu population of the Egyin Gol Valley (south of Lake Baikal in northern Mongolia) (Keyser-Tracqui et al. 2003 Am. J. Hum. Genet. 73:247-260) were compared with data from two contemporary Mongolian populations: one from the same location (Egyin Gol Valley plus a perimeter of less than 100 km around the valley), and one from the whole of Mongolia. The principal objective of this comparative analysis was to assess the likelihood that genetic continuity exists between ancient and present-day Mongolian populations. Since the ancient Xiongnu sample might have been composed of some of the ancestors of the present-day Yakuts, data from a present-day Yakut population, as well as published data from Turkish populations, were also included in the comparative analysis. The main result of our study was the genetic similarity observed among Mongolian samples from different periods and geographic areas. This result supports the hypothesis that the succession over time of different Turkic and Mongolian tribes in the current territory of Mongolia resulted in cultural rather than genetic exchanges. Furthermore, it appears that the Yakuts probably did not find their origin among the Xiongnu tribes, as we previously hypothesized.

Chromosomes, Human, Y↗
PubMed2006

Pathogeny of archaic mycobacteria at the emergence of urban life in Egypt (3400 BC).

In a previous study, we extracted, amplified and sequenced a DNA fragment from bone lesions similar to those of bone tuberculosis in a predynastic skeleton (Egypt, around 3400 BC). This 65 kDa gene fragment encodes the surface of the mycobacterium responsible for the lesions. In the present study, we reconstructed the phylogenetic tree of the Mycobacterium family using this fragment and 51 sequences of pathogens and environmental mycobacteria. This reconstruction enabled us to polarise the phylogenic tree and to confirm the originality of the sequence and its ancestral character. According to a recent evolutionary scenario for the Mycobacterium tuberculosis complex, these data suggest the pathogenicity of an archaic mycobacterium at the emergence of urban life. This result could lead to a better understanding of present day evolutionary processes, especially the emergence or re-emergence of non-tuberculosis mycobacteria infection and disease.

Communicable Diseases, Emerging↗
PubMed2006

Detection and quantification of the age-related point mutation A189G in the human mitochondrial DNA.

Mutation analysis in the mitochondrial DNA (mtDNA) control region is widely used in population genetic studies as well as in forensic medicine. Among the difficulties linked to the mtDNA analysis, one can find the detection of heteroplasmy, which can be inherited or somatic. Recently, age-related point mutation A189G was described in mtDNA and shown to accumulate with age in muscles. We carried out the detection of this 189 heteroplasmic point mutation using three technologies: automated DNA sequencing, Southern blot hybridization using a digoxigenin-labeled oligonucleotide probe, and peptide nucleic acid (PNA)/real-time PCR combined method on different biological samples. Our results give additional information on the increase in mutation frequency with age in muscle tissue and revealed that the PNA/real-time PCR is a largely more sensitive method than DNA sequencing for heteroplasmy detection. These investigations could be of interest in the detection and interpretation of mtDNA heteroplasmy in anthropological and forensic studies.

Adolescent↗
PubMed2005

Spondylarthropathy striking prevalence in a 19th-20th century Portuguese collection.

UNLABELLED: The concept of spondylarthropathy (SPAP) covers a series of pathologies sharing a common genetic basis and infectious triggers. OBJECTIVES: To present and discuss the prevalence of SPAP in the Coimbra identified skeletal collection, a 19th-20th century Portuguese sample. MATERIALS AND METHODS: Each of the 505 individuals was macroscopically examined; each joint being assessed for degenerative, inflammatory, ankylosing, entesopathic, traumatic, congenital, infectious, or associated lesions. For the diagnosis of SPAP, besides the criteria proposed by Rogers and Rothschild, it was also applied a new set of criteria established by Martin-Dupont. Associated and differential diagnoses were also discussed. RESULTS: Using these latter criteria, SPAP was definitely diagnosed in 34 individuals (6.7%), mostly women and elderly individuals. Furthermore, SPAP was diagnosed as probable in 32 (6.3%) and could not be excluded in 98 skeletons (19.4%). Except for the third category, the results were close to those obtained when using the arguments of others authors. DISCUSSION: The specificity of each criterion is discussed, and the results are precautiously compared with other studies both from past and contemporary samples. Graduating the diagnosis as certain, probable or unexcluded, seems to us of interest, leading to etiological discussion as in clinical practice. CONCLUSION: The high prevalence of SPAP achieved for the Portuguese collection might be explained by high exposure to infectious triggers.

Adult↗
PubMed2005

STR-genotyping from human medieval tooth and bone samples.

We 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.

Adult↗
PubMed2005

Ancient DNA analysis of human neolithic remains found in northeastern Siberia.

We successfully extracted DNA from a bone sample of a Neolithic skeleton (dated 3,600 +/- 60 years BP) excavated in northeastern Yakutia (east Siberia). Ancient DNA was analyzed by autosomal STRs (short tandem repeats) and by sequencing of the hypervariable region I (HV1) of the mitochondrial DNA (mtDNA) control region. The STR profile, the mitochondrial haplotype, and the haplogroup determined were compared with those of modern Eurasian and Native American populations. The results showed the affinity of this ancient skeleton with both east Siberian/Asian and Native American populations.

Base Sequence↗
PubMed2004

Is cribra orbitalia synonymous with anemia? Analysis and interpretation of cranial pathology in Sudan.

Cribra orbitalia is a porotic or sieve-like lesion in the bony orbital roof. Its cause has been the object of research and discussion since the end of the 19th century. Since about 1960, most scientists have started to agree on the hypothesis that the lesion is a result of hypertrophy of the red bone marrow, and therefore is proof of anemia. However, recent investigations showed that in some cases, the histologic bone structure does not support the diagnosis of anemia. The status of cribra orbitalia as an indicator then becomes uncertain. We carried out a histologic examination of thin-ground sections in polarized light to clarify the possible sources of orbital roof lesions in a Nubian population from Missiminia, northern Sudan (n = 333). In at least 56.5% of cribra orbitalia cases, there were no histologic features indicating changes due to anemia. Signs of other pathological conditions, such as inflammation or osteoporosis, as well as pseudopathological cases, were found.

Adult↗
PubMed2004

Genetic analysis and ethnic affinities from two Scytho-Siberian skeletons.

We extracted DNA from two skeletons belonging to the Sytho-Siberian population, which were excavated from the Sebÿstei site (dating back 2,500 years) in the Altai Republic (Central Asia). Ancient DNA was analyzed by autosomal short tandem repeats (STRs) and by the sequencing of the hypervariable region 1 (HV1) of the mitochondrial DNA (mtDNA) control region. The results showed that these two skeletons were not close relatives. Moreover, their haplogroups were characteristic of Asian populations. Comparison with the haplogroup of 3,523 Asian and American individuals linked one skeleton with a putative ancestral paleo-Asiatic population and the other with Chinese populations. It appears that the genetic study of ancient populations of Central Asia brings important elements to the understanding of human population movements in Asia.

Adult↗
PubMed2004

Genotyping, Orientalis-like Yersinia pestis, and plague pandemics.

Three pandemics have been attributed to plague in the last 1,500 years. Yersinia pestis caused the third, and its DNA was found in human remains from the second. The Antiqua biovar of Y. pestis may have caused the first pandemic; the other two biovars, Medievalis and Orientalis, may have caused the second and third pandemics, respectively. To test this hypothesis, we designed an original genotyping system based on intergenic spacer sequencing called multiple spacer typing (MST). We found that MST differentiated every biovar in a collection of 36 Y. pestis isolates representative of the three biovars. When MST was applied to dental pulp collected from remains of eight persons who likely died in the first and second pandemics, this system identified original sequences that matched those of Y. pestis Orientalis. These data indicate that Y. pestis caused cases of Justinian plague. The two historical plague pandemics were likely caused by Orientalis-like strains.

Base Sequence↗
PubMed2003

Genetic analysis of human remains found in two eighteenth century Yakut graves at At-Dabaan.

We extracted DNA from three skeletons belonging to the Yakut population, which were excavated from the At-Dabaan site (dating back 300 years) in the Sakha Republic (Russia). Ancient DNA was analyzed by autosomal STRs (short tandem repeats) and by the sequencing of the hypervariable region 1 (HV1) of the mitochondrial DNA (mtDNA) control region. The results showed that these three skeletons were not close relatives but probably linked to the same clan structure. Comparison of their haplotypes with the haplotypes of 8,774 Eurasian individuals suggested a relative specificity and continuity of part of the Yakut mitochondrial gene pool during the last 3 centuries.

Anthropology, Physical↗
PubMed2003

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.

Alleles↗
PubMed2002

Epidemiology of osteoarthritis and enthesopathies in a European population dating back 7700 years.

OBJECTIVES: To investigate the epidemiology of bone changes related to degenerative joint disease and enthesopathies in the earliest Neolithic population identified in Europe (dated back 7700 years), to compare the findings with those in medieval and contemporary populations, and to draw etiological inferences. METHODS: Examination of the skeletal remains of 119 individuals older than 20 years of age at death and buried in two Central European cemeteries dated as far back as 7700 years (5700 BC). RESULTS: The propensity for developing degenerative disease seemed to vary among individuals, as it does today. The hands, shoulder, and hip were common targets of osteoarthritis, as they are today, and the elbow was more likely to be affected in the Neolithic and medieval populations than in contemporary populations. When age of the individuals is taken into account, the prevalence of knee osteoarthritis does not seem to have changed substantially overtime. CONCLUSIONS: These results attest to the major role of microtrauma in osteoarthritis of the upper limb joints. At the other joints, after correction for age, the prevalence of degenerative disease and the combinations of joint involvements have remained remarkably constant over time, suggesting a major role for genetic factors (bone formers) already present in European populations in the early Neolithic period.

Europe↗