Dr. van Winkle
03-01-2012, 06:33 AM
Oetzi the Iceman: Proof of Ancient Sardinian Civilization?
01.03.2012
http://img651.imageshack.us/img651/2566/oetzireconstruction.jpg
New evidence published by Nature magazine leads to some interesting insights into the life, health and lifestyle of the ancient Ice Man found in the Alps - Oetzi. DNA research has been carried out on what must be the most-studied corpse in history and the genome has been sequenced, leading to some startling revelations.
Oetzi, 5,300 years old, was found by mountain hikers in the Italian-Austrian Alps in 1991. Well preserved in ice, the body has provided some important information on pre-historic man. Now, we examine the man himself.
Nature magazine brings the news that the entire DNA sequence of Oetzi the Iceman from Tyrol has been published in Nature Communications and that the study of the genome gives important information as to the iceman's relations: from Sardinia and Corsica.
Oetzi had tattoos, he had tooth cavities, he had hardening of the arteries and before he died, he ate a nice meal of ibex - then he was felled with an arrow in the back. It is not clear whether he died from this or from severe head trauma - either he hit his head when he fell some distance after being shot with the arrow, or else died a violent death when his head was smashed by an assailant.
Albert Zink, head of the Institute for Mummies and the Iceman in Bolzano, Italy, leader of the sequencing study, stated to Nature: "We would like to know as much as possible about his living conditions, about himself and also his cause of death. We really tried to reconstruct a crime scene as much as possible".
The DNA sequence was taken from Oetzi's cellular mitochondria in 2008, and contained mutations which are no longer found today, making experts conclude that Oetzi came from a tribe or people that had since disappeared. The team led by Zink got further information by studying cells taken from a piece of Oetzi's pelvic bone, containing 96% of the Iceman's genome.
This led to the discovery that he had brown eyes, type O blood, was lactose intolerant, was athletic and active and almost certainly had Lyme disease (Tick fever). It also led to the discovery that the mutations in his Y chromosome are most common among men from the Mediterranean Isles of Corsica and Sardinia, where it is known there was a prehistoric civilization, which at one time was present across the European Continent and disappeared, except on those two islands.
Nature quotes Copenhagen University palaeogenomicist Eske Willerslev, who states: "Sardinians are a group that people have considered distinct from other Europeans, and in this regard it would be interesting if they were more widely distributed in the past".
Source: Pravda.Ru (http://english.pravda.ru/science/mysteries/01-03-2012/120644-oetzi_iceman-0/)
Genetic analysis
A group of scientists have sequenced Ötzi's full genome and the report was published on 28 February 2012. Dr. Eduard Egarter-Vigl said in an interview that the Y-DNA of Ötzi belongs to subclade G2a4 which has since been renamed G2a2b. Analysis of his mitochondrial DNA has shown that Ötzi belongs to the K1 subclade, but cannot be categorized into any of the three modern branches of that subclade (K1a, K1b or K1c). The new subclade has provisionally been named K1ö for Ötzi. Multiplex assay study was able to confirm that the Iceman's mtDNA belongs to a new European mtDNA clade with a very limited distribution amongst modern data sets. He is most closely related to southern Europeans, particularly geographically isolated populations of Sardinia and Corsica, while in mainland Europe the frequencies of his Y-DNA subclade nowhere reach 1%.
http://en.wikipedia.org/wiki/%C3%96tzi_the_Iceman
The following article was posted on Tuesday February 28, 2012 at Dienekes' Anthropology Blog (http://dienekes.blogspot.com/2012/02/complete-genome-of-tyrolean-iceman.html):
Complete genome of the Tyrolean Iceman
From the paper:
We addressed this issue here by analyzing 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%.
In terms of autosomal DNA, the Iceman clearly clusters with modern Sardinians, and also appears slightly more removed than them compared to continental Europeans. Interestingly, at least as far as the PC analysis shows, Sardinians appear to be intermediate between the Iceman and SW Europeans, rather than Italians. Perhaps, this makes sense if the Paleo-Sardinian (http://en.wikipedia.org/wiki/Paleo-Sardinian_language) language is indeed related to languages of Iberia.
I don't see a downloadable version of the Iceman's genome at the icemangenome.net site, but I've asked the corresponding author for a PLINK/EIGENSOFT version of it. I anticipate that, as I've predicted, this will appear to be largely "Mediterranean" according to Dodecad v3, or "Atlantic_Med" according to the newer K12b calculator. It appears that there has indeed been Sardinian continuity against a backdrop of European discontinuity (http://dienekes.blogspot.com/2011/10/sardinian-continuity-against-backdrop.html).
The Iceman's genome also places the Sardinian genetic isolate into new light. Two explanations have been proposed for the fact that Sardinians appear genetically distinctive vis a vis continental Europeans:
Sardinians have lost due to drift alleles that were present in continental Europe
Continental Europeans have gained alleles that were not present in their Sardinian-like ancestors
The Iceman's genome argues strongly in favor of the latter hypothesis: continental Europeans, or, at least North Italians c. 5,300 years ago were more Sardinian-like, and they have become less Sardinian-like up to the present, probably due to an influx of new populations, carrying new alleles. As more ancient DNA is recovered, we will slowly witness the transformation of gene pools over time.
Nature Communications 3, Article number: 698 doi:10.1038/ncomms1701:
New insights into the Tyrolean Iceman's origin and phenotype as inferred by whole-genome sequencing (http://dienekes.blogspot.com/2011/10/sardinian-continuity-against-backdrop.html)
Andreas Keller et al.
The Tyrolean Iceman, a 5,300-year-old Copper age individual, was discovered in 1991 on the Tisenjoch Pass in the Italian part of the Ötztal Alps. Here we report the complete genome sequence of the Iceman and show 100% concordance between the previously reported mitochondrial genome sequence and the consensus sequence generated from our genomic data. We present indications for recent common ancestry between the Iceman and present-day inhabitants of the Tyrrhenian Sea, that the Iceman probably had brown eyes, belonged to blood group O and was lactose intolerant. His genetic predisposition shows an increased risk for coronary heart disease and may have contributed to the development of previously reported vascular calcifications. Sequences corresponding to ~60% of the genome of Borrelia burgdorferi are indicative of the earliest human case of infection with the pathogen for Lyme borreliosis.
http://4.bp.blogspot.com/-eBDf5q1TjbQ/T00lUzX1pZI/AAAAAAAAEjg/xPf-gaDQA7Q/s1600/g2a4.jpg
http://2.bp.blogspot.com/-yOWdXHUO_cM/T00noVo1RdI/AAAAAAAAEjs/s_ciwVCe82A/s1600/iceman_genome.jpg
http://dienekes.blogspot.com/2012/02/complete-genome-of-tyrolean-iceman.html
01.03.2012
http://img651.imageshack.us/img651/2566/oetzireconstruction.jpg
New evidence published by Nature magazine leads to some interesting insights into the life, health and lifestyle of the ancient Ice Man found in the Alps - Oetzi. DNA research has been carried out on what must be the most-studied corpse in history and the genome has been sequenced, leading to some startling revelations.
Oetzi, 5,300 years old, was found by mountain hikers in the Italian-Austrian Alps in 1991. Well preserved in ice, the body has provided some important information on pre-historic man. Now, we examine the man himself.
Nature magazine brings the news that the entire DNA sequence of Oetzi the Iceman from Tyrol has been published in Nature Communications and that the study of the genome gives important information as to the iceman's relations: from Sardinia and Corsica.
Oetzi had tattoos, he had tooth cavities, he had hardening of the arteries and before he died, he ate a nice meal of ibex - then he was felled with an arrow in the back. It is not clear whether he died from this or from severe head trauma - either he hit his head when he fell some distance after being shot with the arrow, or else died a violent death when his head was smashed by an assailant.
Albert Zink, head of the Institute for Mummies and the Iceman in Bolzano, Italy, leader of the sequencing study, stated to Nature: "We would like to know as much as possible about his living conditions, about himself and also his cause of death. We really tried to reconstruct a crime scene as much as possible".
The DNA sequence was taken from Oetzi's cellular mitochondria in 2008, and contained mutations which are no longer found today, making experts conclude that Oetzi came from a tribe or people that had since disappeared. The team led by Zink got further information by studying cells taken from a piece of Oetzi's pelvic bone, containing 96% of the Iceman's genome.
This led to the discovery that he had brown eyes, type O blood, was lactose intolerant, was athletic and active and almost certainly had Lyme disease (Tick fever). It also led to the discovery that the mutations in his Y chromosome are most common among men from the Mediterranean Isles of Corsica and Sardinia, where it is known there was a prehistoric civilization, which at one time was present across the European Continent and disappeared, except on those two islands.
Nature quotes Copenhagen University palaeogenomicist Eske Willerslev, who states: "Sardinians are a group that people have considered distinct from other Europeans, and in this regard it would be interesting if they were more widely distributed in the past".
Source: Pravda.Ru (http://english.pravda.ru/science/mysteries/01-03-2012/120644-oetzi_iceman-0/)
Genetic analysis
A group of scientists have sequenced Ötzi's full genome and the report was published on 28 February 2012. Dr. Eduard Egarter-Vigl said in an interview that the Y-DNA of Ötzi belongs to subclade G2a4 which has since been renamed G2a2b. Analysis of his mitochondrial DNA has shown that Ötzi belongs to the K1 subclade, but cannot be categorized into any of the three modern branches of that subclade (K1a, K1b or K1c). The new subclade has provisionally been named K1ö for Ötzi. Multiplex assay study was able to confirm that the Iceman's mtDNA belongs to a new European mtDNA clade with a very limited distribution amongst modern data sets. He is most closely related to southern Europeans, particularly geographically isolated populations of Sardinia and Corsica, while in mainland Europe the frequencies of his Y-DNA subclade nowhere reach 1%.
http://en.wikipedia.org/wiki/%C3%96tzi_the_Iceman
The following article was posted on Tuesday February 28, 2012 at Dienekes' Anthropology Blog (http://dienekes.blogspot.com/2012/02/complete-genome-of-tyrolean-iceman.html):
Complete genome of the Tyrolean Iceman
From the paper:
We addressed this issue here by analyzing 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%.
In terms of autosomal DNA, the Iceman clearly clusters with modern Sardinians, and also appears slightly more removed than them compared to continental Europeans. Interestingly, at least as far as the PC analysis shows, Sardinians appear to be intermediate between the Iceman and SW Europeans, rather than Italians. Perhaps, this makes sense if the Paleo-Sardinian (http://en.wikipedia.org/wiki/Paleo-Sardinian_language) language is indeed related to languages of Iberia.
I don't see a downloadable version of the Iceman's genome at the icemangenome.net site, but I've asked the corresponding author for a PLINK/EIGENSOFT version of it. I anticipate that, as I've predicted, this will appear to be largely "Mediterranean" according to Dodecad v3, or "Atlantic_Med" according to the newer K12b calculator. It appears that there has indeed been Sardinian continuity against a backdrop of European discontinuity (http://dienekes.blogspot.com/2011/10/sardinian-continuity-against-backdrop.html).
The Iceman's genome also places the Sardinian genetic isolate into new light. Two explanations have been proposed for the fact that Sardinians appear genetically distinctive vis a vis continental Europeans:
Sardinians have lost due to drift alleles that were present in continental Europe
Continental Europeans have gained alleles that were not present in their Sardinian-like ancestors
The Iceman's genome argues strongly in favor of the latter hypothesis: continental Europeans, or, at least North Italians c. 5,300 years ago were more Sardinian-like, and they have become less Sardinian-like up to the present, probably due to an influx of new populations, carrying new alleles. As more ancient DNA is recovered, we will slowly witness the transformation of gene pools over time.
Nature Communications 3, Article number: 698 doi:10.1038/ncomms1701:
New insights into the Tyrolean Iceman's origin and phenotype as inferred by whole-genome sequencing (http://dienekes.blogspot.com/2011/10/sardinian-continuity-against-backdrop.html)
Andreas Keller et al.
The Tyrolean Iceman, a 5,300-year-old Copper age individual, was discovered in 1991 on the Tisenjoch Pass in the Italian part of the Ötztal Alps. Here we report the complete genome sequence of the Iceman and show 100% concordance between the previously reported mitochondrial genome sequence and the consensus sequence generated from our genomic data. We present indications for recent common ancestry between the Iceman and present-day inhabitants of the Tyrrhenian Sea, that the Iceman probably had brown eyes, belonged to blood group O and was lactose intolerant. His genetic predisposition shows an increased risk for coronary heart disease and may have contributed to the development of previously reported vascular calcifications. Sequences corresponding to ~60% of the genome of Borrelia burgdorferi are indicative of the earliest human case of infection with the pathogen for Lyme borreliosis.
http://4.bp.blogspot.com/-eBDf5q1TjbQ/T00lUzX1pZI/AAAAAAAAEjg/xPf-gaDQA7Q/s1600/g2a4.jpg
http://2.bp.blogspot.com/-yOWdXHUO_cM/T00noVo1RdI/AAAAAAAAEjs/s_ciwVCe82A/s1600/iceman_genome.jpg
http://dienekes.blogspot.com/2012/02/complete-genome-of-tyrolean-iceman.html