Petrous bones and teeth are the skeletal elements most often targeted by researchers for ancient DNA (aDNA) extraction, and the sources of the majority of previously published ancient African genomes. However, the high temperature environments that characterise much of Africa often lead to poor preservation of skeletal remains. Here, we successfully reconstruct and analyse genome-wide data from the naturally mummified hair of a 4000-year-old individual from Sudan in northeastern Africa, after failed attempts at DNA extraction from teeth, petrous, and cranium of this and other individuals from the Kadruka cemeteries. We find that hair DNA extracted with an established single-stranded library protocol is unusually enriched in ultra-short DNA molecules and exhibits substantial interior molecular damage. The aDNA was nonetheless amenable to genetic analyses, which revealed that the genome is genetically indistinguishable from that of early Neolithic eastern African pastoralists located 2500 kms away. Our findings are consistent with established models for the southward dispersal of Middle Nile Valley pastoral populations to the Rift Valley of eastern Africa, and provide a possible genetic source population for this dispersal. Our study highlights the value of mummified hair as an alternate source of aDNA from regions with poor bone preservation.
The 19th century excavation of an exceptionally well-preserved Early Bronze Age high status log-coffin burial from northern England, dated to 2200-2020 BC, yielded a 'food residue' collected from the inside of an accompanying bark vessel. This residue contained fibrous stitching that was used to hold the bark walls of the vessel together, first described as animal sinews, although the surviving material clearly contains animal hairs. Protein sequencing by soft ionisation mass spectrometry should identify the proteins that constitute the material, as well as the animal species from which they derive. Peptide mass fingerprinting (PMF) by MALDI-TOF-MS combined with liquid chromatography-ESI-LTQ-MS/MS was used to identify low-abundance proteins as well as the dominant proteins in the sample. These proteomics techniques revealed the dominant proteins as deriving from the fibrous keratins (both types 1 and 2) and collagens (types 1 and 3), specifically those indicative of a bovine source. However, several peptide sequences diagnostic of bovine α-S1-casein were also observed, indicating that traces of milk had been preserved within the >4000-year-old fibrous residue. The presence of this food vessel that once contained milk within a burial of high status is suggestive of the importance placed on these secondary products. It is perhaps more remarkable that this information was retrieved not only from material of such antiquity, but also from an excavation that occurred nearly 200 years ago.
Polar carboxylic acid fractions of lipids extracted from samples from a 4000-year-old Nubian mummy were investigated by capillary gas chromatography mass spectrometry. They contain series of alpha,omega-dicarboxy, monohydroxy, dihydroxy and keto fatty acids, some of which were found for the first time outside the synthetic laboratory. Their chromatographic and mass spectrometric characteristic properties are reported.
Mankind has been expressing the breeding topic for thousands of years. Reproduction is the primary instinct of human beings and it is a social, cultural, medical issue. Demographic infertility is one of them, which is defined infertility as the inability to become pregnant with a live birth, within five years of regular sexual contact based upon a consistent union status in marriage maintaining a desire for a child with the lack of contraceptive use and non-lactating. A first mentions about infertility and surrogacy is discovered on a 4000-year-old clay tablet of marriage contract belonging to the Assyrian period exhibited at Istanbul Archeology Museum in Turkey. In conclusion, there are many different ways to solve infertility problems like surrogacy as mentioned even 4000 years ago in this Assyrian clay tablet of marriage contract as the first time in the literature. Medical treatments in relation to human infertility will continue to be the focus of social and cultural debates. Hence, more legislation and regulation will come in many countries to control the unauthorized exploitation of the patient.
High throughput sequencing (HTS) has been used for a number of years in the field of paleogenomics to facilitate the recovery of small DNA fragments from ancient specimens. Recently, these techniques have also been applied in forensics, where they have been used for the recovery of mitochondrial DNA sequences from samples where traditional PCR-based assays fail because of the very short length of endogenous DNA molecules. Here, we describe the biological sexing of a ~4000-year-old Egyptian mummy using shotgun sequencing and two established methods of biological sex determination (RX and RY), by way of mitochondrial genome analysis as a means of sequence data authentication. This particular case of historical interest increases the potential utility of HTS techniques for forensic purposes by demonstrating that data from the more discriminatory nuclear genome can be recovered from the most damaged specimens, even in cases where mitochondrial DNA cannot be recovered with current PCR-based forensic technologies. Although additional work remains to be done before nuclear DNA recovered via these methods can be used routinely in operational casework for individual identification purposes, these results indicate substantial promise for the retrieval of probative individually identifying DNA data from the most limited and degraded forensic specimens.
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This paper presents the first ever paleodontological investigation of human remains from an archeological site in Central Europe dating from the Early Bronze Age and attributed to the Strzyzow Culture. It corroborates the knowledge gained from archeological, anthropological and genetical investigations. Our study aimed to assess dental status, dental morphology and dental pathologies as well as tooth wear and enamel hypoplasia based on visual inspection and stereomicroscopic investigation. The research was supported by CBCT imaging to obtain digital images and 3D reconstructions as well as 2D radiographs essential for dental age estimation. All of the 191 teeth discovered showed morphological similarity, with adult teeth showing similar color, shape and size. A maxillary molar presenting with a unique root morphology and a mandibular molar with a rare occlusal surface were found. Both permanent and deciduous dentition presented significant tooth wear. A few specimens displayed signs of dental caries, periapical pathology and antemortem tooth loss. Three individuals exhibited linear enamel hypoplasia. CBCT provided high-quality 2D images useful for dental age estimation by non-destructive methods. Estimated dental age correlated with the age estimated by other anthropological methods. In one case, this was crucial because of insufficient material for anthropological analysis. The presented studies have proved that besides the skeleton, teeth can be used as a fundamental tool in assessing the overall health and living conditions of paleopopulations. It would seem that there is potential for considerable development to be made in the research and investigation of paleodontological material using CBCT.
Examination of eroded and intact earth mounds in the Clanwilliam district, South Africa, indicates that they are well-established active termitaria of the harvester termite Microhodotermes viator. Unoccupied lower portions of the mounds contain ubiquitous trace-fossil evidence of earlier inhabitation by the same species. Previous studies indicating that fossorial molerats played a major role in the formation of the mounds are not supported by the observations presented here. Calcretization of the basal parts of the earth mounds has been caused by groundwater interaction with the more alkaline mound soil. 14C dating of this calcrete indicates that the earth mounds have been in existence for at least 4000 years, an order of magnitude greater than any previously recorded longevity for termitarium inhabitation.
This paper reports a paleopathological study of a severe neural tube defect in an ancient mummy, more specifically, a meningocele in an Egyptian infant from the XI dynasty (2100-1955B.C.). This is one of the most ancient cases of meningocele in mummified human remains described in paleopathological literature. Prehistoric and early historic examples of severe congenital defects of the vertebral column and neural tube are rare, because of the precarious preservation conditions of ancient human remains. Further, since the majority are only the skeletal remains, paleopathological and paleoepidemiological analysis based on the observation of bones is even more difficult. Hence, it is not easy to investigate this disease in the past in all its complexities and true diffusion. The case presented here is peculiar, since it concerns a mummy with almost all soft tissues preserved, thus allowing us to describe the defect in an infant. Only targeted, minimally invasive examinations were performed. An anthropological investigation with helical CT scan and histological analysis was used to diagnose the defect and identify post-mortem transformation processes. The analyses confirmed the diagnosis of meningocele in an approximately six-month-old infant.
Bacteria of the genus Bartonella are transmitted by ectoparasites (lice, fleas, ticks) and have mammalian reservoirs in which they cause chronic, asymptomatic bacteremia. Humans are the reservoir of B. quintana, the louse-borne agent of trench fever. We detected DNA of B. quintana in the dental pulp of a person who died 4000 years ago.
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Oral infections have been seen in humans since ancient times. Excessive penetration of this infection can cause human death. Most of these infections are gum cysts and abscesses. The cyst creates large hard lumps in the gums, which is causes loose, and protruding teeth and abscesses, causing cavities in the jawbone and teeth. In this article, we have discussed for this infectious disease in 4000 - year - old ancient humans from Qazvin Province, Iran. The bone remains of our research are related to Sagezabad ancient cemetery in Qazvin plain. We tried to use reliable international atlases to get detailed information about ancient oral infections. The bones were extracted from the 2019 excavation of the Ghara Tappe area of Sagezabad for the Iron Age 2nd and 3rd Qazvin plains of Iran. This cemetery belongs to the period of the Medes Kingdom (pre - Achaemenian kingdom) in Iran. We have discussed one of the ancient cemeteries with a large number of ancient populations. In this cemetery, there are signs of war and infectious diseases on the bones, which can be clearly seen. We have specially mentioned the abscess as the cause of oral infection from Sagezabad cemetery. Oral infection existed in Iran since 2000 BC. Of course, this infection was common in ancient times and even Paleolithic period, like Homo Heidelbergensis.
Studies of biotic remains of polar ice caps have been limited to morphological identification of plant pollen and spores. By using sensitive molecular techniques, we now demonstrate a much greater range of detectable organisms; from 2000- and 4000-year-old ice-core samples, we obtained and characterized 120 clones that represent at least 57 distinct taxa and reveal a diversity of fungi, plants, algae, and protists. The organisms derive from distant sources as well as from the local arctic environment. Our results suggest that additional taxa may soon be readily identified, providing a plank for future studies of deep ice cores and yielding valuable information about ancient communities and their change over time.
Broadly defined public policy has been said to be whatever "governments choose to do or not to do" As applied to healthcare, public policy can be traced back to the 4000-year-old Code of Hammurabi. As it applies to dialysis care its history is barely 50 years old since national coverage for end-stage renal disease (ESRD) was legislated as Public Law 92-603 in 1972. As with most healthcare policy changes, it was a result of medical progress which had changed renal function replacement by dialysis from its rudimentary beginnings during the Second World War into an experimental acute life-saving procedure in the 1950s and to an established life-sustaining treatment for the otherwise fatal disease of uremia in the 1960s that was limited by its costs. Since 1973, the Medicare ESRD Program has saved the lives of thousands of individuals, a compassionate achievement that has come at increasing costs which have exceeded all estimates and evaded containment. Apart from cost containment, policy changes in dialysis care have been directed at improving its safety and adequacy. Some of the results of these changes are evident as one compares the outcomes and complications of dialysis encountered in the 1970s to those in the present; others, particularly those related to vascular access and hospitalization rates have improved modestly. This article recounts the historical background in which national coverage for dialysis care was developed, legislated and has evolved over the past 50 years.
Carbon burial is increasingly valued as a service provided by threatened vegetated coastal habitats. Similarly, shellfish reefs contain significant pools of carbon and are globally endangered, yet considerable uncertainty remains regarding shellfish reefs' role as sources (+) or sinks (-) of atmospheric CO2 While CO2 release is a by-product of carbonate shell production (then burial), shellfish also facilitate atmospheric-CO2 drawdown via filtration and rapid biodeposition of carbon-fixing primary producers. We provide a framework to account for the dual burial of inorganic and organic carbon, and demonstrate that decade-old experimental reefs on intertidal sandflats were net sources of CO2 (7.1 ± 1.2 MgC ha-1 yr-1 (µ ± s.e.)) resulting from predominantly carbonate deposition, whereas shallow subtidal reefs (-1.0 ± 0.4 MgC ha-1 yr-1) and saltmarsh-fringing reefs (-1.3 ± 0.4 MgC ha-1 yr-1) were dominated by organic-carbon-rich sediments and functioned as net carbon sinks (on par with vegetated coastal habitats). These landscape-level differences reflect gradients in shellfish growth, survivorship and shell bioerosion. Notably, down-core carbon concentrations in 100- to 4000-year-old reefs mirrored experimental-reef data, suggesting our results are relevant over centennial to millennial scales, although we note that these natural reefs appeared to function as slight carbon sources (0.5 ± 0.3 MgC ha-1 yr-1). Globally, the historical mining of the top metre of shellfish reefs may have reintroduced more than 400 000 000 Mg of organic carbon into estuaries. Importantly, reef formation and destruction do not have reciprocal, counterbalancing impacts on atmospheric CO2 since excavated organic material may be remineralized while shell may experience continued preservation through reburial. Thus, protection of existing reefs could be considered as one component of climate mitigation programmes focused on the coastal zone.
Reflexology is a 4000-year-old art of healing practiced in ancient India, China and Egypt. In the beginning of the 20th century, it spread to the Western world. Reflexologic clinics and massage centers can be found all around the world. In spite of the widespread popularity, to the best of our knowledge, no serious research work has been done in this area, although much scientific research work has been carried out in other Eastern techniques like meditation and yoga. This is why a humble attempt is done in this work to quantitatively assess the effect of reflexological stimulation from a systems point of view. In this work, nonlinear techniques have been used to assess the complexity of EEG with and without reflexological stimulation. We prefer the nonlinear approach, as we believe that the effects are taking place in a subtle way, since there is no direct correlation between reflexological points and modern neuroanatomy.
Microorganisms that were isolated from steppe soils buried below kurgans from 5800 to 750 years ago were analyzed for the completeness of isolation, total biomass (the sum of glucose-reactivated and resting microbial cells), and active biomass (metabolically active cells). The metabolic state of microbial communities in buried and modern background soils was estimated from the proportion of active and total biomasses. The paleosoils were found to be characterized by lower total and active biomasses and a lower proportion of active microorganisms as compared to the modern background soils. The age-dependent decrease in the content of active microorganisms in the microbial communities of palesoils was not monotonic. For instance, the 4000-year-old paleosoil was characterized by a high total biomass and a relatively low content of active microorganisms, whereas the 1950-year-old paleosoil was characterized by a relatively low total biomass and a relatively high content of active microorganisms. This could reflect the temporal dynamics of paleoclimatic conditions in the geographic region under study.
We here show that nano-scale mapping of elements commonly utilized in biological cycles provides a promising new additional line of evidence when evaluating the extent of the contribution of biology to microbialites. Our case study comes from Lake Clifton in Western Australia, a unique environment where living domical and conical microbialites occur in close proximity to ≤ 4000-year-old fossilized equivalents. The outer margins of a partially lithified, actively growing Lake Clifton microbialite are characterized by abundant filamentous cyanobacteria within a loosely cemented aragonite matrix. Nano-scale chemical maps have been successfully matched to specific morphological features such as trichomes, sheaths and putative extracellular polymeric substances (EPS). A suite of elements (C, O, Mg, N, Si, S) is concentrated within cyanobacterial sheaths, with carbon, magnesium, nitrogen and sulfur also enriched within trichomes and putative EPS. Calcium distribution highlights the sites of aragonite mineralization. In contrast, the fossilized Lake Clifton microbialite contains only rare, extensively degraded cyanobacterial filaments, the mean diameter of which is <50% of the living equivalents. Nevertheless, nano-scale chemical maps can again be matched with morphological features. Here, poorly preserved filamentous microfossils are highlighted by enrichments in nitrogen and sulfur. Magnesium is no longer concentrated within the filaments, instead it co-occurs with calcium and oxygen in the calcite cement. Extension of this study to a ~2720-million-year-old stromatolitic microbialite from the Tumbiana Formation of Western Australia shows that similar nano-scale signals, in particular nitrogen and sulfur enrichments, are characteristic of stromatolite laminations, even when morphological microfossils are absent. The close similarities of nano-scale elemental distributions in organic material from modern and ancient microbialites show that this technique provides a valuable addition to the morphological investigation of such structures, particularly in non-fossiliferous ancient examples.
Studying ancient infectious diseases is a challenge, as written contemporary descriptions, when available, are often imprecise and do not allow for accurate discrimination among the pathogens endemic at that time. Paleomicrobiology offers a unique access to the history of these infections by identifying precisely the causative agents. Body louse-transmitted infections are amongst the most epidemic diseases in history, especially in war and famine periods. Of these, Bartonella quintana was detected by suicide PCR in 4000-year-old human remains, thus representing the oldest evidence to date of an arthropod-transmitted infection to human beings. This species has also been detected in human specimens from the 11th to 15th, 18th and 19th centuries. In addition, Bartonella henselae, a cat- and flea-associated pathogen, was detected in cat specimens from the 13th to 18th centuries, therefore demonstrating an association of the bacterium and its reservoir for over 800 years. Therefore, pathogenic Bartonella species have been involved in several outbreaks in the past millennia and should systematically be investigated in human remains from suspected epidemics.
Acrocallosal syndrome (ACLS) is an autosomal recessive neurodevelopmental disorder caused by KIF7 defects and belongs to the heterogeneous group of ciliopathies related to Joubert syndrome (JBTS). While ACLS is characterized by macrocephaly, prominent forehead, depressed nasal bridge, and hypertelorism, facial dysmorphism has not been emphasized in JBTS cohorts with molecular diagnosis. To evaluate the specificity and etiology of ACLS craniofacial features, we performed whole exome or targeted Sanger sequencing in patients with the aforementioned overlapping craniofacial appearance but variable additional ciliopathy features followed by functional studies. We found (likely) pathogenic variants of KIF7 in 5 out of 9 families, including the original ACLS patients, and delineated 1000 to 4000-year-old Swiss founder alleles. Three of the remaining families had (likely) pathogenic variants in the JBTS gene C5orf42, and one patient had a novel de novo frameshift variant in SHH known to cause autosomal dominant holoprosencephaly. In accordance with the patients' craniofacial anomalies, we showed facial midline widening after silencing of C5orf42 in chicken embryos. We further supported the link between KIF7, SHH, and C5orf42 by demonstrating abnormal primary cilia and diminished response to a SHH agonist in fibroblasts of C5orf42-mutated patients, as well as axonal pathfinding errors in C5orf42-silenced chicken embryos similar to those observed after perturbation of Shh signaling. Our findings, therefore, suggest that beside the neurodevelopmental features, macrocephaly and facial widening are likely more general signs of disturbed SHH signaling. Nevertheless, long-term follow-up revealed that C5orf42-mutated patients showed catch-up development and fainting of facial features contrary to KIF7-mutated patients.