Great European mountain ranges have acted as barriers to gene flow for resident populations since prehistory and have offered a place for the settlement of small, and sometimes culturally diverse, ...communities. Therefore, the human groups that have settled in these areas are worth exploring as an important potential source of diversity in the genetic structure of European populations. In this study, we present new high resolution data concerning Y chromosomal variation in three distinct Alpine ethno-linguistic groups, Italian, Ladin and German. Combining unpublished and literature data on Y chromosome and mitochondrial variation, we were able to detect different genetic patterns. In fact, within and among population diversity values observed vary across linguistic groups, with German and Italian speakers at the two extremes, and seem to reflect their different demographic histories. Using simulations we inferred that the joint effect of continued genetic isolation and reduced founding group size may explain the apportionment of genetic diversity observed in all groups. Extending the analysis to other continental populations, we observed that the genetic differentiation of Ladins and German speakers from Europeans is comparable or even greater to that observed for well known outliers like Sardinian and Basques. Finally, we found that in south Tyroleans, the social practice of Geschlossener Hof, a hereditary norm which might have favored male dispersal, coincides with a significant intra-group diversity for mtDNA but not for Y chromosome, a genetic pattern which is opposite to those expected among patrilocal populations. Together with previous evidence regarding the possible effects of "local ethnicity" on the genetic structure of German speakers that have settled in the eastern Italian Alps, this finding suggests that taking socio-cultural factors into account together with geographical variables and linguistic diversity may help unveil some yet to be understood aspects of the genetic structure of European populations.
For years we have investigated the presence and molecular evolution of tuberculosis in Pre Dynastic and Early Dynastic Egyptian mummy material from Abydos (c. 3500-2800 BC), Middle and New Kingdom ...until the Late Period in Thebes-West (c. 2050 – 500 BC). We have analysed 160 bone and soft tissue samples from different time periods and populations for the occurrence of M. tuberculosis complex DNA. All positive specimens were genetically characterised by spoligotyping and mutation analysis. Molecular analyses revealed excellent state of preservation of the specimens. Research showed a high incidence of M. tuberculosis during all time periods. We further detected specific MTB strain differences with M. africanum in some of the Middle Kingdom samples and “modern” M. tuberculosis strains in the New Kingdom to Late Period material. These results demonstrate that aDNA is excellently preserved in ancient Egyptian mummies allowing the reconstruction of occurrence, frequency, molecular evolution and spread of tuberculosis in Pharaonic populations.
We undertook the analysis of Zweeloo Woman, a bog mummy from the Netherlands, to assess her parasitic state. Evidence of infection came from two areas: (1) liver paraffin sections and (2) ...microfossils washed from an intestinal section. Although the liver had shrunken considerably, objects consistent with operculated trematode eggs were found. After evaluating the range of trematode species that produce eggs in liver tissue, we arrived at the diagnosis of Dicrocoelium dendriticum. Although only 0.1ml of sediment was recovered from an intestinal section, eggs of Ascaris lumbricoides and Trichuris trichiura were also identified. No eggs of D. dendriticum were revealed by the intestinal wash although they were observed in the liver. The lancet fluke, D. dendriticum, is a zoonosis that usually infects ruminants such as cattle. Eggs of D. dendriticum may be found in human coprolites if infected cow liver, for example, was eaten. This is false parasitism. Since eggs of D. dendriticum were found in the liver of Zweeloo Woman, we are assured this was a true infection. This find is especially significant because it is the oldest known, patent infection of D. dendriticum in humans.
Prevotella copri is a common human gut microbe that has been both positively and negatively associated with host health. In a cross-continent meta-analysis exploiting >6,500 metagenomes, we obtained ...>1,000 genomes and explored the genetic and population structure of P. copri. P. copri encompasses four distinct clades (>10% inter-clade genetic divergence) that we propose constitute the P. copri complex, and all clades were confirmed by isolate sequencing. These clades are nearly ubiquitous and co-present in non-Westernized populations. Genomic analysis showed substantial functional diversity in the complex with notable differences in carbohydrate metabolism, suggesting that multi-generational dietary modifications may be driving reduced prevalence in Westernized populations. Analysis of ancient metagenomes highlighted patterns of P. copri presence consistent with modern non-Westernized populations and a clade delineation time pre-dating human migratory waves out of Africa. These findings reveal that P. copri exhibits a high diversity that is underrepresented in Western-lifestyle populations.
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•P. copri is not a monotypic species but composed of four distinct clades•The P. copri complex is more prevalent in populations with non-Westernized lifestyles•P. copri clades are frequently co-present within non-Westernized individuals•Ancient stool samples suggest Westernization leads to P. copri underrepresentation
Tett et al. find that the intestinal microbe Prevotella copri encompasses four distinct clades constituting the P. copri complex. The complex is prevalent in non-Westernized populations where co-presence of all clades is commonly observed within individuals. Analysis of ancient stool samples supports Westernization as contributing to reduced P. copri prevalence.
Genomanalyse der Gletschermumie Ötzi Maixner, Frank; Krause, Johannes; Zink, Albert
Biospektrum,
02/2024, Letnik:
30, Številka:
1
Journal Article
Recenzirano
The Iceman, a 5,300-year-old Copper age individual, was discovered in 1991 in the Italian Alps. The Iceman’s genome was decoded for the first time more than 10 years ago. Advances in sequencing ...technologies since then have now enabled a research team from the Max Planck Institute for Evolutionary Anthropology and Eurac Research to reconstruct his genome in higher resolution. The results of this recent analysis provide a more comprehensive picture of the Iceman’s genetic history and phenotype.
*Department of Pathology, Ludwig-Maximillians-Universität, D-80337 München, Department of Pathology, Friedrich-Alexander Universität Erlangen-Nürnberg, D-91054, Institute of Medical Microbiology and ...Hygiene, University, D-93053 Regensburg and Department of Diagnostic Radiology, Ludwig-Maximilians-Universität, D-80336 München, Germany
Corresponding author: Professor A. G. Nerlich (e-mail: Andreas.Nerlich{at}lrz.uni-muenchen.de ).
Received 14 March 2000; revised version received 9 Sept. 2000; accepted 15 Sept. 2000.
Abstract
A paleomicrobiological study was performed on 37 skeletal tissue specimens from cadavers in the necropolis of Thebes-West, Upper Egypt, (2120500 BC) and four from the necropolis of Abydos (3000 BC). The subjects had typical macromorphological evidence of osseous tuberculosis (n = 3), morphological alterations that were not specific, but probably resulted from tuberculosis (n = 17), or were without morphological osseous changes (n = 21). DNA was extracted from these bone samples and amplified by PCR with a primer pair that recognised the Mycobacterium tuberculosis complex insertion sequence IS 6110 . To confirm specificity of the analysis, the amplification products of several samples were subjected to restriction enzyme digestion, or direct sequencing, or both. In 30 of the 41 cases analysed, ancient DNA was demonstrated by amplification by the presence of the human ß-actin or the amelogenin gene and nine of these cases were positive for M. tuberculosis DNA. The results were confirmed by restriction endonuclease digestion and sequencing. A positive result for M. tuberculosis DNA was seen in two of the three cases with typical morphological signs of tuberculosis and amplifiable DNA, in five of 13 non-specific, but probable cases (including two cases from c . 3000 BC), but also in two of 14 cases without pathological bone changes. These observations confirm that tuberculosis may be diagnosed unequivocally in skeletal material from ancient Egypt, even dating back to c . 3000 BC. As a positive molecular reaction was observed in most of the typical cases of skeletal tuberculosis, in about one-third of non-specific, but probable tuberculous osseous changes and, surprisingly, in about one-seventh of unremarkable samples, this suggests that infection with M. tuberculosis was relatively frequent in ancient Egypt.
Objective To investigate the true character of the harem conspiracy described in the Judicial Papyrus of Turin and determine whether Ramesses III was indeed killed.Design Anthropological, forensic, ...radiological, and genetic study of the mummies of Ramesses III and unknown man E, found together and taken from the 20th dynasty of ancient Egypt (circa 1190-1070 BC).Results Computed tomography scans revealed a deep cut in Ramesses III’s throat, probably made by a sharp knife. During the mummification process, a Horus eye amulet was inserted in the wound for healing purposes, and the neck was covered by a collar of thick linen layers. Forensic examination of unknown man E showed compressed skin folds around his neck and a thoracic inflation. Unknown man E also had an unusual mummification procedure. According to genetic analyses, both mummies had identical haplotypes of the Y chromosome and a common male lineage.Conclusions This study suggests that Ramesses III was murdered during the harem conspiracy by the cutting of his throat. Unknown man E is a possible candidate as Ramesses III’s son Pentawere.
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