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Post by Admin on Dec 11, 2018 17:59:30 GMT
To determine the Iceman's paternal ancestry, his Y-chromosome haplogroup allocation was assessed according to the hierarchical order of markers organized by the International Society of Genetic Genealogy (2011)." 14. The detection of four phylogenetically equivalent SNPs15 and an independent verification of the rs2032636 (M201) SNP by Sanger sequencing of a PCR amplicon obtained using genomic DNA isolated from a 2007 muscle biopsy unequivocally assigns the Iceman to haplogroup G, specifically subgroup G2a (Supplementary Table S7). While haplogroup G displays its highest frequency in the Caucasus16, it is also present at ∼11% in present day Italy17. Genetic analysis of ancient DNA from 5,000-year-old skeletons from a burial cave site in southern France were mostly assigned to haplogroup G2a-P15 (ref. 18). Haplogroup G2a3 was also reported in an ancient DNA sample of an early Neolithic individual from Saxony-Anhalt, Germany19. We used the phylogenetic relationships of the ancestral and derived allelic states for 13 other detected SNPs within the G hierarchy (Supplementary Table S7, Fig. 3c) to place the Iceman into the G2a4-L91 lineage that is notably divergent from G2a3-U8 lineages typical of modern continental Europeans. Knowledge about the phylogeography of haplogroup G2a4 is unreported. We addressed this issue here by analysing the G2a4-defining L91 SNP in 7,797 chromosomes from 30 regions across Europe. Fig. 3d shows the spatial frequency distribution of G2a4 throughout Europe. The highest frequencies (25 and 9%) occur in southern Corsica and northern Sardinia, respectively, (Fig. 3e) while in mainland Europe the frequencies do not reach 1%. We also performed a detailed analysis of the Iceman's phenotype and the diseases he may have suffered from. One trait associated with the beginning of agriculture in Europe is lactase persistence (the ability to digest milk after early childhood), which is commonly associated with a polymorphism in the MCM6 gene (−13,910*T)20. Palaeogenetic analyses from various prehistoric sites failed to detect the derived allele in any of the tested Neolithic samples, indicating that lactase persistence was rare in the Neolithic and, due to the substantial selective advantage conferred by this trait, gained in frequency over the next millennia and was widespread in Central Europe by the Middle Ages21. Comparisons between genotype and phenotype (diagnostic methane–hydrogen breath test) in South European individuals have shown that the homozygous ancestral C allele causes clinical symptoms in over 85% of cases22. Although a small number of genetically non-lactase-persistent individuals show no malabsorption problems, this may not least depend on the age variation of the study group: the onset age of lactose malabsorption differs between populations, sometimes not becoming manifest before the 30th year of life. As the Iceman's genome displays the homozygous ancestral allele at this site (coverage 14-fold, independently replicated by PCR), he was in all probability lactose intolerant as an adult.  Computer tomography scans of the Iceman recently revealed major calcification in carotid arteries, distal aorta and right iliac artery as strong signs for a generalized atherosclerotic disease1(Fig. 4). As his lifestyle inferred by radiological and stable isotope data did not entail major environmental cardiovascular risk factors, we looked for genetic risk factors, specifically for SNPs linked with cardiovascular disease in genome-wide association studies. The Iceman was homozygous for the minor allele (GG) of rs10757274, which has been repeatedly confirmed as a major risk locus for CHD. This genotype shows an up to 40% increased risk (confidence interval=1.19–1.60 in the Copenhagen City Heart Study and 1.09–1.52 in the Atherosclerosis Risk in Communities Study) for development of a clinically manifest CHD in different ethnicities, independent of classical risk factors23. This SNP was furthermore identified as a risk locus for ischaemic stroke (odds ratio=1.59 (1.20–2.11), P=0.004)24,25 and sudden cardiac death (meta-analysis of six independent cohort studies: odds ratio=1.21 (1.04–1.40), P=0.01)26. We also identified a homozygous minor allele of rs2383206 (GG), which is another major CHD and ischaemic risk SNP with a hazard ratio of 1.26 (1.07–1.48)23 and 1.30 (1.06–1.58)27, respectively. In combination with rs10757274 the risk for developing CHD almost doubles28. In addition, the Iceman's genome harbours endothelin receptor type B heterozygote variant rs5351, which independently increases the risk for atherosclerosis in men29. In addition, we found SNPs in three genes that have been associated with CHD, namely VDR, TBX5 and BDKRB1. While we detected the SNP rs2228570, located in a start codon of the gene VDR, for genes TBX and BDKRB1 we found novel mutations in the respective stop codons (Supplementary Table S8). |
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Post by Admin on Dec 12, 2018 18:05:31 GMT
 Figure 4: CT image of abdomen and coronal reconstruction. Several SNPs in the OCA2 and HERC2 genes identified as being associated with iris colour were analysed. The most strongly associated variant, rs12913832, shows the homozygous A allele in the Iceman's genome (coverage depth ×31), which is associated with brown eye colour in over 80% of cases even when regarded alone30. Branicki et al.31 defined a haplotype of five SNPs as predictor: rs4778138, rs4778241, rs7495174, rs12913832 and rs916977. The Iceman's haplotype (for which TTTTC and TTTTT were addressed together as the last SNP is a clear heterozygote) in the Branicki study encompassed 46 individuals, 8 of which were blue eyed, the residual 38 having a non-blue eye colour. The haplotype defined by Sturm et al.30narrows the field down further: individuals who shared the Iceman's A-AAA haplotype had blue eyes in under 5% of cases, 40% having green or more often hazel eyes, while 55.7% of individuals had brown eyes. Further, phenotypically relevant variants include a homozygous deletion (coverage depth ×7) at rs8176719, a T allele at rs505922 and lack of significant deletions in the RHD gene, which are characteristic of blood group O Rh-positive carriers32,33.  Next-generation sequencing technology enabled the reconstruction of the nuclear genome of the Tyrolean Iceman. For control purposes, temporally and spatially separate DNA analysis was performed on different samples, yielding consistent data. The mitochondrial consensus generated from our data showed 100% concordance with the previously published Iceman mitochondrial genome, underlining the sequence authenticity. Sequence analysis showed genetic distance from modern mainland European populations, but proximity to the extant populations of Sardinia. Interestingly, the Iceman's Y-haplogroup G2a4 has hitherto only been found at appreciable frequencies in Mediterranean islands of the Tyrrhenian Sea (Sardinia and Corsica). Although admixture and demographic history cannot be reconstructed from one individual alone, the Iceman's Y-chromosomal data document the presence of haplogroup G in Italy by the end of the Neolithic and lends further support to the demic diffusion model36.  The affinity of the Iceman's genome to modern Sardinian groups may reflect relatively recent common ancestry between the ancient Sardinian and Alpine populations, possibly due to the diffusion of Neolithic peoples. The Iceman's stable isotope constitution37 that localized his residential mobility to the Alpine region, taken together with our initial genomic ancestry profile, suggests differential genetic destinies for populations of mainland Europe and those of the islands of the Tyrrhenian Sea that began to diverge at least 5,000 years ago. The Iceman's genetic signature may at one time have been more frequent in Neolithic South Tyrol although further ancient DNA analyses from these regions will be necessary to fully understand the genetic structure of ancient Alpine communities and migration patterns between the insular and mainland Mediterranean. Autosomal data also yielded novel insights into the Iceman's phenotype, such as eye colour and the inability to digest lactose. The availability of the complete, excellently preserved body allows comparisons between genetic data and observed morphological and radiological characteristics, such as the vascular calcifications diagnosed in previous CT analyses, which were now shown to have a probable hereditary component. The discovery of predisposition risk factors for atherosclerosis points towards a hereditary component for the vascular calcifications radiologically observed in the  . Finally, the detection of B. burgdorferi is the oldest documentation of this pathogen in a human to date. Nature Communications volume3, Article number: 698 (2012) |
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Post by Admin on Apr 15, 2019 17:50:52 GMT
In Theaters & On Demand March 15, 2019! In 1991, a melting glacier revealed the body of a man. At first, people assumed he was a hiker. But then scientists discovered that he’d been dead for over five thousand years. This is his story, the story of the stone age known as Ötzi... The Ötztal Alps, more than 5,300 years ago. A Neolithic clan has settled nearby a creek. It is their leader Kelab’s responsibility to be the keeper of the group’s holy shrine Tineka. While Kelab is hunting, the settlement is attacked. The members of the tribe are brutally murdered including Kelab’s wife and son, and Tineka is gone. Blinded by pain and fury, Kelab is out for one thing alone – vengeance. Kelab follows the perpetrators’ tracks. On his odyssey through the mountains, he’s exposed to the dangers of nature. Finally, Kelab faces not only his family’s murderers but also himself. Will he succumb to his urge for revenge or can he succeed in breaking the eternal circle of violence? Kelab (Jürgen Vogel) is the leader of a small Neolithic village nestled in a valley surrounded by the vastness of nature, and together they live life, raise their families, and survive. That changes one day when Kelab is off hunting and three strangers arrive uninvited. They ravage the village, steal their sacred relic, and murder men, women, and children alike leaving only Kelab’s newborn alive unknowingly. Kelab returns to find his home and family ablaze while the perpetrators head up into the mountains, and after burying his loved ones and securing the infant the rage-filled Kelab sets off after them. It’s a chase built on an adrenaline-fueled thirst for revenge, but the craving might not last until the final moments. Revenge is a distinctly human trait, and while it only grows more elaborate in its execution as time marches forward the drive and desire for it has been with us even in far simpler times. The fictional story imagined by writer/director Felix Randau for the real body nicknamed “Ötzi” follows genre conventions in its tale of a man seeking vengeance for the loss of his loved ones, and that familiarity is so clear that language is no barrier. The characters speak a version of the Rhaetic language, but no subtitles are provided as they’re wholly unnecessary to understand and follow the emotions and story beats at play here. Kelab’s pursuit of the evildoers leads him across an unforgiving landscape climbing up icy terrain into the clouds with only his will and the tools of the time driving him, and the result is a quest for violence set against pure beauty. Randau and cinematographer Jakub Bejnarowicz capture the rocky peaks and forested valleys of the Italian Alps with raw majesty, and it’s as welcoming as it is hostile. High precipices are every bit as dangerous as hidden caverns of ice, and revenge is forced to share the screen with a tale of survival. |
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Post by Admin on Aug 16, 2023 18:08:41 GMT
 Reanalysis of Iceman's genome reveals dark skin, baldness and Anatolian ancestry The genetic makeup of most present-day Europeans has resulted mainly from the admixture of three ancestral groups: western hunter-gatherers gradually merged with early farmers who migrated from Anatolia about 8,000 years ago and who were later on joined by Steppe Herders from Eastern Europe, approximately 4,900 years ago. The initial analysis of the Iceman's genome revealed genetic traces of these Steppe Herders. However, the refined new results no longer support this finding. The reason for the inaccuracy: the original sample had been contaminated with modern DNA. Since that first study, not only have sequencing technologies advanced enormously, but many more genomes of other prehistoric Europeans have been fully decoded, often from skeletal finds. This has made it possible to compare the Neolithic Tyrolean Iceman Ötzi's genetic code with his contemporaries. The result: among the hundreds of early European people who lived at the same time as Ötzi and whose genomes are now available, Ötzi's genome has more ancestry in common with early Anatolian farmers than any of his European counterparts. The research is published in the journal Cell Genomics. Ötzi's ancestry and appearance The research team concludes that the Iceman came from a relatively isolated population that had very little contact with other European groups. "We were very surprised to find no traces of Eastern European Steppe Herders in the most recent analysis of the Iceman genome; the proportion of hunter-gatherer genes in Ötzi's genome is also very low. Genetically, his ancestors seem to have arrived directly from Anatolia without mixing with hunter gatherer groups," explains Johannes Krause, head of the Department of Archaeogenetics at the Max Planck Institute for Evolutionary Anthropology in Leipzig, and co-author of the study. The study also yielded new results about Ötzi's appearance. His skin type, already determined in the first genome analysis to be Mediterranean-European, was even darker than previously thought. "It's the darkest skin tone that has been recorded in contemporary European individuals," explains anthropologist Albert Zink, study co-author and head of the Eurac Research Institute for Studies in Bolzano. "It was previously thought that the 's skin had darkened during its preservation in the ice, but presumably what we see now is actually largely Ötzi's original skin color. Knowing this, of course, is also important for the proper conservation of the ." Our previous image of Ötzi is also incorrect regarding his hair: as a mature man, he most likely no longer had long, thick hair on his head, but at most a sparse crown of hair. His genes, in fact, show a predisposition to baldness. "This is a relatively clear result and could also explain why almost no hair was found on the ," says Zink. Genes presenting an increased risk of obesity and type 2 diabetes were also found in Ötzi's genome, however, these factors probably did not come into play thanks to his healthy lifestyle. More information: Johannes Krause, High coverage genome of the Tyrolean Iceman reveals unusually high Anatolian Farmer ancestry, Cell Genomics (2023). DOI: 10.1016/j.xgen.2023.100377. www.cell.com/cell-genomics/ful … 2666-979X(23)00174-X www.cell.com/cell-genomics/fulltext/S2666-979X(23)00174-X |
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Post by Admin on Aug 17, 2023 6:36:23 GMT
NEW YORK (AP) — Oetzi the Iceman has a new look. Decades after the famous glacier was discovered in the Italian Alps, scientists have dug back into his DNA to paint a better picture of the ancient hunter. They determined that Oetzi was mostly descended from farmers from present day Turkey, and his head was balder and skin darker than what was initially thought, according to a study published Wednesday in the journal Cell Genomics. Oetzi, who lived more than 5,000 years ago, was frozen into the ice after he was killed by an arrow to the back. His corpse was preserved as a “natural ” until 1991, when hikers found him along with some of his clothing and gear — including a copper ax, a longbow and a bearskin hat. Since then, many researchers have worked to uncover more about the , which is displayed at the South Tyrol Museum of Archaeology in Bolzano, Italy. An earlier draft of Oetzi’s genome was published in 2012. But ancient DNA research has advanced since then, so scientists decided to take another look at the iceman’s genes, explained study author Johannes Krause, a geneticist at Germany’s Max Planck Institute for Evolutionary Anthropology. They used DNA extracted from the ’s hip bone. The updated genome is “providing deeper insights into the history of this ,” said Andreas Keller of Germany’s Saarland University. Keller worked on the earlier version but was not involved with the latest study. Based on the new genome, Oetzi’s appearance when he died around age 45 was much like the looks today: It’s dark and doesn’t have much hair on it, said study author Albert Zink, head of the Institute for Studies at Eurac Research in Italy. Scientists previously thought the iceman was lighter-skinned and hairier in life, but that his mummified corpse had changed over time. His genome also showed an increased chance of obesity and diabetes, the researchers reported. And his ancestry suggests that he lived among an isolated population in the Alps, Zink said. Most Europeans today have a mix of genes from three groups: farmers from Anatolia, hunter-gatherers from the west and herders from the east. But 92% of Oetzi’s ancestry was from just the Anatolian farmers, without much mixing from the other groups. ___ The Associated Press Health and Science Department receives support from the Howard Hughes Medical Institute’s Science and Educational Media Group. The AP is solely responsible for all content. |
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. Finally, the detection of B. burgdorferi is the oldest documentation of this pathogen in a human to date.