Ötzi - Oldest European ever found
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-- Iceman’s Genome Furnishes Clues to His Ailments and Ancestry - 2/28/12
-- New study of Iceman reveals oldest known example of red blood cells - 5/08/15
-- Surprising Facts About Otzi the Iceman - 8/16/13
-- Ötzi the Iceman - 5000 BC
-- Reported by the BBC:

 Iceman’s Genome Furnishes Clues to His Ailments and Ancestry

February 28, 2012     By Kate Wong    

The Iceman is a 5,300-year-old mummy discovered in the Ötzal Alps.
 Image: Samadelli Marco/EURAC

Ever since two hikers happened upon the mummified body of Ötzi the Iceman on a high mountain pass in the Ötzal Alps in 1991, scientists have been working to figure out who he was and where he came from. Previous research indicated that Ötzi spent his life within a 60-kilometer radius of where the hikers found him and died around 5,300 years ago, most likely from an arrow wound in his shoulder. Now the sequencing of his genome is allowing experts to fill in more details, such as the color of his eyes, his cardiovascular health and where his ancestors originated.

Albert Zink of the European Academy of Bozen/Bolzano in Italy and his colleagues report the results of the sequencing work in a paper published today in Nature Communications (Scientific American is part of Nature Publishing Group). The team found that the Iceman probably had brown eyes and type O blood. He was also most likely lactose intolerant as an adult. Analyses further revealed that the Iceman had several genetic risk factors for coronary heart disease. Several years ago, computer tomography scans of the mummy showed evidence of arteriosclerosis—hardening of the arteries—yet he appeared to have a healthy lifestyle. The new work suggests that a genetic predisposition to heart disease might explain the arteriosclerosis visible in the CT scans. Cardiovascular disease may not have been the Iceman’s only health issue. The investigators also found traces of DNA from the bacterial pathogen Borrelia burgdorferi, which causes Lyme disease in humans—the oldest such case on record.

Intriguingly, comparison of the Iceman’s genome with DNA from present-day populations linked him not to mainland European groups, but to people from the Mediterranean island of Sardinia.  Study co-author Peter Underhill of Stanford University observes that there are two possibilities for how someone with a Sardinian genetic signature ended up in the Alps 5,300 years ago.   ”The presence of similar genetic heritage to [the] Iceman persisting in modern day Sardinians is suggestive that Sardinia represents a relic distribution of the gene pool that was in place on the Italian mainland during prehistoric times but now has largely been transformed by subsequent population events such as migrations, genetic mixing, etc.,” he offers.   “Sometime during the past [10,000] years some people with a genetic constitution similar to [the] Iceman’s colonized Sardinia.   This isolated region/gene pool was more impervious to events that transpired on the mainland.” Alternatively, Underhill notes, the Iceman’s parents may have traveled to the mainland from Sardinia.   Archaeologists have found volcanic glass (obsidian) on the mainland that originated from Mt. Arci on Sardinia, indicating that trade existed between Sardinia and the mainland. Perhaps the Iceman’s parents were involved in that trade, Underhill speculates.*

“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,” the researchers conclude.

About the Author: Kate Wong is an editor and writer at Scientific American covering paleontology, archaeology and life sciences.
The views expressed are those of the author and are not necessarily those of Scientific American.
Scientific American is a trademark of Scientific American, Inc., used with permission

Article from Discovery Magazine:

Continuing the discussion- extracted with edit:  Ötzi the Iceman and the Sardinians

New insights into the Tyrolean Iceman’s origin and phenotype as inferred by whole-genome sequencingis now reported.  It seems he was killed but his corpse was preserved leaving enough tissue so that researchers have been able to amplify his DNA.   Now they’ve sequenced it to the point where they can make some inferences about his phenotypic characteristics, and, his phylogenetic relationships to modern populations.

This paper will not be particularly surprising to close readers of this weblog.   The guesses of some readers based on what the researchers hinted were correct: Ötzi seems to resemble most closely the people of Sardinia.   One reason is prosaic.  The HGDP sample used in the test includes many Northern Italians (from Bergamo).   Why is it that Ötzi does not resemble the people from the region that he was indigenous to? (we know that he was indigenous because of the ratio of isotopes in his body) A more abstruse issue is that Sardinians have remained moored to their genetic past, enough so that a 5,300 year old individual clearly can exhibit affinities with them.   The distinctiveness of Sardinians jumps out at you when you analyze genetic data sets.   They were clearly set apart in L. L. Cavalli-Sforza’s "The History and Geography of Human Genes", 20 years ago.   One reason that Sardinians may be distinctive is that Sardinia is an isolated island.   Islands experience reduced gene flow because being surrounded by water makes travel more difficult.   And sure enough, Sardinians are especially similar to each other in relation to other European populations.

But Ötzi’s affinities reduce the strength of this particular dynamic as an explanation for Sardinian distinctiveness.   Genetic variation has been plotted showing the primary cline of genetic variation in Europe is North-South, with a secondary one going from West-East.   The “Europe S” cluster includes northern, southern, and Sicilian Italians.   Ötzi is closest to a large cluster of Sardinians.    Interestingly there are also a few others.   I do not know who they are because I do not have access to the supplements.  The Sardinian plots being closer to the continental populations than Ötzi is also striking.   But totally intelligible: Sardinia has had some gene flow with other Mediterranean populations.   This obviously post-dates Ötzi; Roman adventurers and Genoaese magnates could not be in his genealogy because Rome and Genoa did not exist 5,300 years ago.   These data strongly point to the possibility of rather major genetic changes in continental Europe, and in particular Italy, since the Copper Age.   Juvenal complained that the “River Orantes has long flowed into the Tiber,” a reference to the prominence of easterners, Greek and non-Greek, in the city of Rome.   The impact of this is not to be dismissed, but I do not think that it gets to the heart of this matter.

Ötzi is actually closer to the “Middle Eastern” cluster in the plot than many Italians!   In fact, more than most.   I suspect that rather than the Orantes, the Rhine and the Elbe have had more of an impact on the genetic character of Italians over the past 5,000 years.   Before Lombardy was Lombardy, named for a German tribe, it was Cisapline Gaul, after the Celts who had settled it. And before that? For that you have to ask where Indo-Europeans came from.   I suspect the answer is that they came from the north, and therefore brought northern genes.

And what of the Sardinians?   I believe that the “islanders” of the Mediterranean are a relatively “pristine” snapshot of a particular moment in the history of the region. This is evident in Dienekes’ Dodecad Ancestry Project.   Unlike their mainland cousins both the Sardinians and Cypriots tend to lack a “Northern European” component.   Are the islanders in part descendants of the Paleolithic populations?   In part. Sardinians carry a relatively high fraction of the U5 haplogroup, which has been associated with ancient hunter-gatherer remains.   But it is also possible that the preponderant aspect of Sardinian ancestry derives from the first farmers to settle the Western Mediterranean.   I say this because the Iceman carried the G2a Y haplogroup, which has of late been strongly associated with very early Neolithic populations in Western Europe.   And interestingly some scholars have discerned a pre-Indo-European substrate in Sardinian which suggests a connection to the Basque.   I wouldn’t read too much into that, but these questions need to be explored, as Ötzi’s genetic nature makes Sardiniaology more critical to understanding the European past.

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 New study of Iceman reveals oldest known example of red blood cells

May 08, 2015 by Bob Yirka report

A team of researchers with the European Academy of Bozen (EURAC) aka, the Institute for Mummies and the Iceman in Bolzano, Italy, has found examples of the oldest known samples of red blood cells. In their paper uploaded to the open access site, Journal of the Royal Society Interface, the team explains how they found the red blood cells and why they now believe the Iceman died very quickly.

The Iceman as he has come to be known, (also known as Ötzi) has been the object of intense scrutiny ever since being found embedded in an Alpine glacier back in 1991—he is believed to have died approximately 5,300 years ago. Attempts to find examples of actual red blood cells within his body have failed in the past, but in this new effort, the researchers used a new technique—a nano-sized probe they moved very slowly over parts of the mummified body that had been wounded, leading to open cuts. Because it moves, the probe allows for capturing 3D imagery—it revealed the clear doughnut shape of red blood cells. To confirm that the images they were seeing represented real red blood cells, the team shone a laser on the same material and read the wavelengths that were reflected back—that revealed that the molecular makeup of the material matched that of red blood cells—a finding that marks the oldest known preserved instance of a red blood cell.

Scientists believe the Iceman was approximately 46 years old when he died—other research has led to the discovery that he suffered from a variety of illnesses and injuries and his skin was decorated with many tattoos, most of which are believed to have been applied as a means of alleviating joint pain, possibly due to arthritis or inflammation caused by Lyme Disease.

Also, by using Raman spectroscopy, the researchers found traces of fibrin, a clotting agent the body makes immediately after an injury occurs, which suggests very strongly that the Iceman died shortly after he was wounded—it is generally absorbed shortly after an injury occurs as other agents take over. Because it was still present near the Iceman's wound suggests he died shortly after it was inflicted, likely from a blow to the head.

More information: Preservation of 5300 year old red blood cells in the Iceman, Journal of the Royal Society Interface, DOI: 10.1098/rsif.2012.0174

Changes in elasticity and structures of red blood cells (RBCs) are important indicators of disease, and this makes them interesting for medical studies. In forensics, blood analyses represent a crucial part of crime scene investigations. For these reasons, the recovery and analysis of blood cells from ancient tissues is of major interest. In this study, we show that RBCs were preserved in Iceman tissue samples for more than 5000 years. The morphological and molecular composition of the blood corpuscle is verified by atomic force microscope and Raman spectroscopy measurements. The cell size and shape approximated those of healthy, dried, recent RBCs. Raman spectra of the ancient corpuscle revealed bands that are characteristic of haemoglobin. Additional vibrational modes typical for other proteinaceous fragments, possibly fibrin, suggested the formation of a blood clot. The band intensities, however, were approximately an order of magnitude weaker than those of recent RBCs. This fact points to a decrease in the RBC-specific metalloprotein haemoglobin and, thus, to a degradation of the cells. Together, the results show the preservation of RBCs in the 5000 year old mummy tissue and give the first insights into their degradation.


 Surprising Facts About Otzi the Iceman

Scholars continue to be amazed by the ancient man found frozen in the Alps.

PUBLISHED OCTOBER 16, 2013 James Owen for National Geographic

A report that Ötzi the Iceman has 19 genetic relatives living in Austria is the latest in a string of surprising discoveries surrounding the famed ice mummy. Ötzi's 5,300-year-old corpse turned up on the mountain border between Austria and Italy in 1991. Here is a rundown of the latest on the world's oldest Alpine celebrity, and some of the other remarkable things we've learned about Ötzi.

(Read "Unfrozen" from the November 2011 issue of National Geographic magazine.)

1. The Iceman has living relatives.

Living links to the Iceman have now been revealed by a new DNA study. Gene researchers looking at unusual markers on the Iceman's male sex chromosome report that they have uncovered at least 19 genetic relatives of Ötzi in Austria's Tyrol region.

The match was made from samples of 3,700 anonymous blood donors in a study led by Walther Parson at Innsbruck Medical University. Sharing a rare mutation known as G-L91, "the Iceman and those 19 share a common ancestor, who may have lived 10,000 to 12,000 years ago," Parson said.

The finding supports previous research suggesting that Ötzi and his ancestors were of farming stock. The study used Y-chromosome markers that are passed from father to son to trace the Neolithic migrations that brought farming to Europe via the Alps. Ötzi belonged to a Y-chromosome group called haplogroup G, which is rooted, like farming, in the Middle East.

The study's overall results fit the idea that the changes of the Neolithic Revolution spurred people westward into the Tyrol region, Parson said.

He is nevertheless wary of any suggestion that Ötzi's distant relatives might be a chip off the old block, either physically or in their liking for simple grain porridge.

2. He had several health issues.

Since Ötzi's discovery in an alpine glacier more than two decades ago, scientists have subjected his mummy to a full-body health check. The findings don't make pretty reading. The 40-something's list of complaints include worn joints, hardened arteries, gallstones, and a nasty growth on his little toe (perhaps caused by frostbite).

Furthermore, the Iceman's gut contained the eggs of parasitic worms, he likely had Lyme disease, and he had alarming levels of arsenic in his system (probably due to working with metal ores and copper extraction). Ötzi was also in need of a dentist—an in-depth dental examination found evidence of advanced gum disease and tooth decay. (See video: "Iceman Autopsy.")

Despite all this, and a fresh arrow wound to his shoulder, it was a sudden blow to the head that proved fatal to Ötzi.

3. He also had anatomical abnormalities.

Besides his physical ailments, the Iceman had several anatomical abnormalities. He lacked both wisdom teeth and a 12th pair of ribs. The mountain man also sported a caddish gap between his two front teeth, known as a diastema. Whether this impressed the ladies is a moot point—some researchers suspect Ötzi might have been infertile.

4. The Iceman was inked.

Ötzi's frozen mummy preserves a fine collection of Copper Age tattoos. Numbering over 50 in total, they cover him from head to foot. These weren't produced using a needle, but by making fine cuts in the skin and then rubbing in charcoal. The result was a series of lines and crosses mostly located on parts of the body that are prone to injury or pain, such as the joints and along the back. This has led some researchers to believe that the tattoos marked acupuncture points.

If so, Ötzi must have needed a lot of treatment, which, given his age and ailments, isn't so surprising. The oldest evidence for acupuncture, Ötzi's tattoos suggest that the practice was around at least 2,000 years earlier than previously thought.

5. He consumed pollen and goats.

The Iceman's final meals have served up a feast of information to scholars. His stomach contained 30 different types of pollen. Analysis of that pollen shows that Ötzi died in spring or early summer, and it has even enabled researchers to trace his movements through different mountain elevations just before he died. His partially digested last meal suggests he ate two hours before his grisly end. It included grains and meat from an ibex, a species of nimble-footed wild goat.


The Neolithic period as a notion is based on an idea of an Old Stone Age (Paleolithic) and New Stone Age (Neolithic).   The definition of Neolithic is now seen as a "package" of characteristics: groundstone tools, rectangular buildings, pottery, people living in settled villages and, most importantly, the production of food by developing a working relationship with animals and plants called domestication.

  Ötzi the Iceman (pronounced ertsie), Similaun Man, and Man from Hauslabjoch are modern names for a well-preserved natural mummy of a man who lived about 5,300 years ago.  The mummy was found in September 1991 in the Ötztal Alps, near Hauslabjoch on the border between Austria and Italy.  The nickname comes from the Ötztal (Ötz valley), the Italian Alps in which he was discovered.  He is Europe's oldest natural human mummy, and has offered an unprecedented view of Chalcolithic (Copper Age) Europeans.  His body and belongings are displayed in the South Tyrol Museum of Archaeology in Bolzano, South Tyrol, Italy.

 Free reconstruction of equipment said to depict the original equipment of Ötzi the Iceman now at the Museum Bélesta (Pyrénées-Orientales), France.

 Living Relatives of Iceman Mummy Found

Oct 14, 2013 11:55 AM ET // by Rossella Lorenzi

Ötzi the Iceman has at least 19 living male relatives in the Austrian Tirol, according to a genetic study into the origins of the people who now inhabit the region.

Scientists from the Institute of Legal Medicine at Innsbruck Medical University analyzed DNA samples taken from 3,700 blood donors in the Tyrol region of Austria.

During their study, they discovered that 19 individuals share a particular genetic mutation with the 5,300-year-old mummy, whose full genome was published last year.

PHOTOS: Iceman Mummy 20 Yrs later: Mysteries Remain

“These men and the Iceman had the same ancestors,” Walther Parson, the forensic scientist who carried out the study, told the Austrian Press Agency.  The researchers focused on parts of the human DNA which are generally inherited unchanged.

“In men it is the Y chromosomes and in females the mitochondria.  Eventual changes arise due to mutations, which are then inherited further,”
Parson explained.

People with the same mutations are categorized in haplogroups. Designed with letters, haplogroups allow researchers to trace early migratory routes since they are often associated with defined populations and geographical regions.

Indeed, Ötzi’s haplogroup is very rare in Europe.   “The Iceman had the halogroup G, sub category G-L91.   In our research we found another 19 people with this genetic group and subgroup,” Parson said.  

ANALYSIS: The Ice Mummy: Little-Known Facts

Having carried Y chromosome haplogroup analysis, Parson was able to trace only the male descendants of the Neolithic man.   So far the 19 individuals have not been informed of their genetic relationship to Ötzi.

Found in 1991 in a melting glacier in the Ötztal Alps (hence the name), the mummy is one of the most heavily investigated human corpses of all time.

Scientists discovered that Ötzi had brown eyes and very bad teeth, was lactose intolerant, had a genetic predisposition for an increased risk for coronary heart disease and probably had Lyme disease.

It’s certain he died a violent death: In 2007, CT scans showed that an arrowhead had lacerated his left subclavian artery, leading to fast bleeding.

ANALYSIS: The Iceman Suffered Brain Damage Before Death

CAT scan of the mummy’s brain and a paleoproteomic study have recently pointed to a cerebral trauma — a violent blow to the head — as the cause of death.

As investigation into the mummy continues, new relatives, alive and well, could be added to the list of the 19 descendants.   According to Parson, the genetic mutation might be also found in the nearby Swiss region of Engadine and in Italy’s South Tyrol region.   “We have already found Swiss and Italian partners so that we can continue our research,” he said.

Image: Facial reconstruction of Ötzi the Iceman. Credit: Heike Engel-21Lux/SÜdtiroler Archäologiemuseum


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