Diabetes gene may come from Neanderthals

Diabetes gene may come from Neanderthals

Type 2 diabetes is a condition in which the body does not produce enough insulin or the cells in the body do not use insulin properly. It is an illness which is known to disproportionately affect Hispanics/Latinos in the United States, but scientists have been unclear as to the reason why. However, a new study suggests that it may be due to a genetic link which began thousands of generations ago.

While it is known that Type 2 diabetes is caused by many factors, including diet and exercise, it is also known that genes play a part in determining whether a person develops the disease or not. Now an international team of scientists have identified mutations in a gene that suggests an explanation for why Hispanics/Latinos are almost twice as likely to develop Type 2 diabetes as Caucasians and African-Americans.

Harvard geneticist David Altshuler and his colleagues analysed DNA from more than 8,000 Mexicans and other Hispanics/Latinos. The team found many genes already known to be involved with diabetes. However, a new one was also identified - a gene that’s likely involved in fat metabolism – and it appears to increase a person’s risk of getting Type 2 diabetes by about 20 percent.

About half of Hispanics/Latinos carry the disease mutations, while only 2 percent of European Americans carry the mutations. So the new genetic data help to explain a big proportion of the difference in Type 2 diabetes prevalence between Hispanics/Latinos and European Americans. This

“The findings are important because they give us a new biological clue about a gene involved in diabetes, which could lead to more treatments,” said Altshuler.

However, another particularly interesting finding was that humans picked up the diabetes mutations from Neanderthals. “As far as I know, this is the first time a version of a gene from Neanderthal has been connected to a modern-day disease,” Altshuler said.

Altshuler pointed out that this does not mean that Neanderthals had diabetes, merely that they carried the mutation. In fact, many of our modern day diseases were absent in our ancient ancestors, presumably because they were not exposed to the same toxins that are in our environment and diets today.


    Diabetes gene may come from Neanderthals - History

    Genes linked with type 2 diabetes, Crohn's disease, and even smoking addiction were acquired through interbreeding with Neanderthals, a study published in Nature suggests.

    Professor David Reich of Harvard Medical School, the lead author of the study, said: 'Now that we can estimate the probability that a particular genetic variant arose from Neanderthals, we can begin to understand how that inherited DNA affects us'.

    The researchers compared the genomes of 1,004 people of European and Asian descent with Neanderthal DNA from a 50,000-year-old toe bone found in a Siberian cave. These genomes were also compared to those of 176 West Africans. Ancestors of people from that part of the world are thought never to have interbred with Neanderthals.

    In contrast, between two percent and four percent of the modern non-African genome is considered to be a result of ancient Homo sapiens interbreeding with Neanderthals.

    The researchers in this study found that Neanderthal DNA is not evenly distributed throughout the genome - some areas are particularly rich, whereas in other areas it is almost entirely absent. Neanderthal DNA was found in very low quantities in regions of the X chromosome and in testes-specific genes, for example.

    However a number of genetic variants inherited from Neanderthals were linked to diseases, especially autoimmune disorders such as lupus, biliary cirrhosis (an autoimmune disease of the liver), Crohn's disease and type 2 diabetes.

    The findings build upon those in another recent study in Nature in which a gene variant of Neanderthal origin was shown to increase the risk of type 2 diabetes (reported in BioNews 736).

    One question the scientists are considering is whether our ancient relatives also had these diseases or whether the variants only impact health in a modern genetic setting. Currently, says Dr Sriram Sankararaman, one of the study's scientists, 'we don't have the fine knowledge of the genetics of Neanderthals to answer this'.

    The answer might come with further research. In a statement, the scientists say they are now searching for Neanderthal mutations in a 'biobank containing genetic data from half a million Britons', presumably UK Biobank.


    Diabetes Risk Gene from ‘Neanderthals’

    A gene variant that seems to increase the risk of diabetes in Latin Americans appears to have been inherited from Neanderthals, a study suggests.

    We now know that modern humans interbred with a population of Neanderthals shortly after leaving Africa 60,000-70,000 years ago.

    This means that Neanderthal genes are now scattered across the genomes of all non-Africans living today.

    Details of the study appear in the journal Nature.

    The gene variant was detected in a large genome-wide association study (GWAS) of more than 8,000 Mexicans and other Latin Americans. The GWAS approach looks at many genes in different individuals, to see whether they are linked with a particular trait.

    People who carry the higher risk version of the gene are 25% more likely to have diabetes than those who do not, and people who inherited copies from both parents are 50% more likely to have diabetes.

    The higher risk form of the gene — named SLC16A11 — has been found in up to half of people with recent Native American ancestry, including Latin Americans.

    The variant is found in about 20% of East Asians and is rare in populations from Europe and Africa.

    The elevated frequency of this variant in Latin Americans could account for as much as 20% of these populations’ increased prevalence of type 2 diabetes — the origins of which are complex and poorly understood.

    “To date, genetic studies have largely used samples from people of European or Asian ancestry, which makes it possible to miss culprit genes that are altered at different frequencies in other populations,” said co-author Jose Florez, associate professor of medicine at Harvard Medical School in Massachusetts.

    “By expanding our search to include samples from Mexico and Latin America, we’ve found one of the strongest genetic risk factors discovered to date, which could illuminate new pathways to target with drugs and a deeper understanding of the disease.”

    The team that discovered the variant carried out additional analyses, in collaboration with Svante Paabo of the Max Planck Institute for Evolutionary Anthropology.

    They discovered that the SLC16A11 sequence associated with risk of type 2 diabetes is found in a newly sequenced Neanderthal genome from Denisova Cave in Siberia.

    Analyses indicate that the higher risk version of SLC16A11 was introduced into modern humans through interbreeding between early modern humans and Neanderthals.

    It is not unusual to find Neanderthal genes. About 2% of the genomes of present-day non-Africans were inherited from this distinctive human group, which lived across Europe and western Asia from about 400,000-300,000 years ago until 30,000 years ago.

    But scientists are only just beginning to understand the functional implications of this Neanderthal inheritance.

    “One of the most exciting aspects of this work is that we’ve uncovered a new clue about the biology of diabetes,” said co-author David Altshuler, who is based at the Broad Institute in Massachusetts.

    SLC16A11 is part of a family of genes that code for proteins that transport metabolites — molecules involved in the body’s various chemical reactions.

    Altering the levels of the SLC16A11 protein can change the amount of a type of fat that has been implicated in the risk of diabetes. These findings suggest that SLC16A11 could be involved in the transport of an unknown metabolite that affects fat levels in cells and thereby increases risk of type 2 diabetes.


    DNA Inherited From Neanderthals May Increase Risk of Covid-19

    The stretch of six genes seems to increase the risk of severe illness from the coronavirus.

    A stretch of DNA linked to Covid-19 was passed down from Neanderthals 60,000 years ago, according to a new study.

    Scientists don’t yet know why this particular segment increases the risk of severe illness from the coronavirus. But the new findings, which were posted online on Friday and have not yet been published in a scientific journal, show how some clues to modern health stem from ancient history.

    “This interbreeding effect that happened 60,000 years ago is still having an impact today,” said Joshua Akey, a geneticist at Princeton University who was not involved in the new study.

    This piece of the genome, which spans six genes on Chromosome 3, has had a puzzling journey through human history, the study found. The variant is now common in Bangladesh, where 63 percent of people carry at least one copy. Across all of South Asia, almost one-third of people have inherited the segment.

    Elsewhere, however, the segment is far less common. Only 8 percent of Europeans carry it, and just 4 percent have it in East Asia. It is almost completely absent in Africa.

    It’s not clear what evolutionary pattern produced this distribution over the past 60,000 years. “That’s the $10,000 question,” said Hugo Zeberg, a geneticist at the Karolinska Institute in Sweden who was one of the authors of the new study.

    One possibility is that the Neanderthal version is harmful and has been getting rarer over all. It’s also possible that the segment improved people’s health in South Asia, perhaps providing a strong immune response to viruses in the region.

    “One should stress that at this point this is pure speculation,” said Dr. Zeberg’s co-author, Svante Paabo, the director of the Max Planck Institute for Evolutionary Anthropology in Leipzig, Germany.

    Researchers are only beginning to understand why Covid-19 is more dangerous for some people than others. Older people are more likely to become severely ill than younger ones. Men are at more risk than women.

    Social inequality matters, too. In the United States, Black people are far more likely than white people to become severely ill from the coronavirus, for example, most likely due in part to the country’s history of systemic racism. It has left Black people with a high rate of chronic diseases such as diabetes, as well as living conditions and jobs that may increase exposure to the virus.

    Genes play a role as well. Last month, researchers compared people in Italy and Spain who became very sick with Covid-19 to those who had only mild infections. They found two places in the genome associated with a greater risk. One is on Chromosome 9 and includes ABO, a gene that determines blood type. The other is the Neanderthal segment on Chromosome 3.

    But these genetic findings are being rapidly updated as more people infected with the coronavirus are studied. Just last week, an international group of scientists called the Covid-19 Host Genetics Initiative released a new set of data downplaying the risk of blood type. “The jury is still out on ABO,” said Mark Daly, a geneticist at Harvard Medical School who is a member of the initiative.

    The new data showed an even stronger link between the disease and the Chromosome 3 segment. People who carry two copies of the variant are three times more likely to suffer from severe illness than people who do not.

    After the new batch of data came out on Monday, Dr. Zeberg decided to find out if the Chromosome 3 segment was passed down from Neanderthals.

    About 60,000 years ago, some ancestors of modern humans expanded out of Africa and swept across Europe, Asia and Australia. These people encountered Neanderthals and interbred. Once Neanderthal DNA entered our gene pool, it spread down through the generations, long after Neanderthals became extinct.

    Most Neanderthal genes turned out to be harmful to modern humans. They may have been a burden on people’s health or made it harder to have children. As a result, Neanderthal genes became rarer, and many disappeared from our gene pool.

    But some genes appear to have provided an evolutionary edge and have become quite common. In May, Dr. Zeberg, Dr. Paabo and Dr. Janet Kelso, also of the Max Planck Institute, discovered that one-third of European women have a Neanderthal hormone receptor. It is associated with increased fertility and fewer miscarriages.

    Dr. Zeberg knew that other Neanderthal genes that are common today even help us fight viruses. When modern humans expanded into Asia and Europe, they may have encountered new viruses against which Neanderthals had already evolved defenses. We have held onto those genes ever since.

    Dr. Zeberg looked at Chromosome 3 in an online database of Neanderthal genomes. He found that the version that raises people’s risk of severe Covid-19 is the same version found in a Neanderthal who lived in Croatia 50,000 years ago. “I texted Svante immediately,” Dr. Zeberg said in an interview, referring to Dr. Paabo.

    Dr. Paabo was on vacation in a cottage in the remote Swedish countryside. Dr. Zeberg showed up the next day, and they worked day and night until they posted the study online on Friday.

    “It’s the most crazy vacation I’ve ever had in this cottage,” Dr. Paabo said.

    Tony Capra, a geneticist at Vanderbilt University who was not involved in the study, thought it was plausible that the Neanderthal chunk of DNA originally provided a benefit — perhaps even against other viruses. “But that was 40,000 years ago, and here we are now,” he said.

    It’s possible that an immune response that worked against ancient viruses has ended up overreacting against the new coronavirus. People who develop severe cases of Covid-19 typically do so because their immune systems launch uncontrolled attacks that end up scarring their lungs and causing inflammation.

    Dr. Paabo said the DNA segment may account in part for why people of Bangladeshi descent are dying at a high rate of Covid-19 in the United Kingdom.

    It’s an open question whether this Neanderthal segment continues to keep a strong link to Covid-19 as Dr. Zeberg and other researchers study more patients. And it may take discoveries of the segment in ancient fossils of modern humans to understand why it became so common in some places but not others.

    But Dr. Zeberg said that the 60,000-year journey of this chunk of DNA in our species might help explain why it’s so dangerous today.


    More information on genetics

    If you would like to learn more about the genetics of all forms of diabetes, the National Institutes of Health has published The Genetic Landscape of Diabetes . This free online book provides an overview of the current knowledge about the genetics of type 1 and type 2 diabetes, as well other less common forms of diabetes. The book is written for health care professionals and for people with diabetes interested in learning more about the disease.


    A Surprising Genetic Risk Factor For Type 2 Diabetes Is Discovered

    All environmental factors being equal, Mexican Americans and other Latinos are at nearly twice the risk of developing Type 2 diabetes than any other ethnic group. Now, an international research group known as the SIGMA (Slim Initiative in Genomic Medicine for the Americas) Type 2 Diabetes Consortium, may be a step closer to understanding why.

    In the largest ever genetic study of its kind, researchers publishing in the journal Nature conducted a DNA analysis of more than 8,000 residents of Mexico and people who lived in Latin America and discovered a gene variant that highly correlates to developing the disease.

    People who carry one copy of the variant of this gene, named SLC16A11, have a 25 percent greater risk of developing Type 2 diabetes, while those who inherit the gene variant from both parents -- meaning they have two copies of it -- have a correlating 50 percent risk of developing the disease.

    The researchers estimate that this SLC16A11 variation accounts for about 20 percent of Latinos' increased risk of Type 2 diabetes.

    Approximately half of people with recent indigenous American ancestry -- which includes those of Mexican descent -- have this genetic variation. It is exceedingly rare among those of European extraction, about 2 percent of whom carry it, though 20 percent of those with East Asian ancestry also have the marker. Of particular intrigue for the researchers was the fact that the variant is absent in African populations. That's unusual because all humans originally came from Africa, which implies that this particular gene developed after humans left the continent.

    In order to understand this unusual pattern, the team conducted additional genomic analyses, in collaboration with Svante Pääbo of the Max Planck Institute for Evolutionary Anthropology, and discovered that the SLC16A11 sequence associated with risk of type 2 diabetes is found in a newly sequenced Neanderthal genome. Analyses indicate that the higher risk version of SLC16A11 was introduced into modern humans through mixing with Neanderthal.

    Inheriting a gene from Neanderthal ancestors is actually not uncommon: approximately 1 to 2 percent of the sequences present in all modern day humans outside of Africa were inherited from Neanderthals. Importantly, neither people with diabetes nor populations of Native American or Latin American ancestry have an excess of Neanderthal DNA relative to other populations.

    After leaving Africa, humans interbred with a population of Neanderthals some 60,000-70,000 years ago, reported the BBC.

    "As far as I know, this is the first time a version of a gene from Neanderthal has been connected to a modern-day disease," Harvard geneticist, David Altshuler told NPR's Shots blog, although he noted that there is no evidence this distinct species of human had the disease, merely that they carried a marker for it.

    The gene is expressed in the liver and is involved in the transportation of metabolites that affect fat levels in cells. By altering the level of the gene variant's proteins, researchers found that they were able to affect the amount of a type of fat that is linked to Type 2 diabetes.

    "By expanding our search to include samples from Mexico and Latin America, we've found one of the strongest genetic risk factors discovered to date, which could illuminate new pathways to target with drugs and a deeper understanding of the disease," co-author José Florez, an associate professor of medicine at Harvard Medical School and an Assistant Physician in the Diabetes Unit and the Center for Human Genetic Research at the Massachusetts General Hospital, said in a statement.

    "We are already using this information to design new studies that aim to understand how this variant influences metabolism and disease, with the hope of eventually developing improved risk assessment and possibly therapy,” added Teresa Tusie-Luna, project leader at the Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán and principal investigator at the Biomedical Research Institute, National University of Mexico.


    Diabetes Gene Common In Latinos Has Ancient Roots

    The skull of a female Neanderthal, who lived about 50,000 years ago, is displayed at the Natural History Museum in London.

    Rick Findler/Barcroft Media/Landov

    When it comes to the rising prevalence of Type 2 diabetes, there are many factors to blame.

    Diet and exercise sit somewhere at the top of the list. But the genes that some of us inherit from Mom and Dad also help determine whether we develop the disease, and how early it crops up.

    Now an international team of scientists have identified mutations in a gene that suggests an explanation for why Latinos are almost twice as likely to develop Type 2 diabetes as Caucasians and African-Americans.

    A reconstruction of a Neanderthal man stands at the Neanderthal Museum in Mettmann, Germany. Horst Ossinger/DPA/LANDOV hide caption

    A reconstruction of a Neanderthal man stands at the Neanderthal Museum in Mettmann, Germany.

    But here's the kicker: You have to go further back on the family tree than your parents to find who's to blame for this genetic link to diabetes. Think thousands of generations ago.

    Harvard geneticist David Altshuler and his colleagues uncovered hints that humans picked up the diabetes mutations from Neanderthals, our ancient cousins who went extinct about 30,000 years ago.

    "As far as I know, this is the first time a version of a gene from Neanderthal has been connected to a modern-day disease," Altshuler tells Shots. He and his colleagues report the findings Wednesday in the journal Nature.

    A few years ago, geneticists at the Max Planck Institute for Evolutionary Anthropology in Germany sent shock waves through the scientific community when they sequenced the genome of a Neanderthal from a fossil. Hidden in the genetic code were patterns that matched those in human DNA. And the data strongly suggested that humans were more than just friendly neighbors with Neanderthal.

    "Now it's well accepted that humans interbred with Neanderthals," Altshuler says. On average most of us carry about 2 percent of Neanderthal DNA in our genome. So it's not surprising, he says, that 2 percent of our traits would be inherited from the ancient primates.

    The new data don't mean that Neanderthals had diabetes, Altshuler is quick to point out. "It just happens that this disease sequence came from them," he says.

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    To identify genes that contribute to Latinos' high rate of Type 2 diabetes, Altshuler and his team analyzed DNA from over 8,000 residents of Mexico and people who lived in Latin America. These people had a mix of European and Native American ancestry.

    The team found many genes already known to be involved with diabetes, such as one related to insulin production. But a new one also popped up in the analysis: a gene that's likely involved in fat metabolism.

    Mutations in this gene increase a person's risk of getting Type 2 diabetes by about a 20 percent, Altshuler and the team found. If the person has two copies of the mutations, one from each parent, the risk rises by about 40 percent.

    So for Mexican Americans, their risk for Type 2 diabetes goes from about 13 percent to 19 percent if they inherit two copies of the mutations. For other Americans, the risk gets boosted to about 11 percent from 8 percent.

    "This is a genetic factor that has a modest affect on the risk of getting the disease. Not everybody that has it will have the disease," Altshuler says. "But the genes are very common in Latinos and Asians."

    About half of Latinos carry the disease mutations, while 20 percent of Asians have it. On the other hand, only 2 percent of European Americans carry the mutations.

    So the new genetic data help to explain a big chunk — perhaps almost a quarter — of the difference in Type 2 diabetes prevalence in Latinos versus European Americans.

    "The findings are important because they give us a new biological clue about a gene involved in diabetes, which could lead to more treatments," Altshuler says. "The Neanderthal connection is interesting, but it's not the essence of the work."


    3. The “Night Owl” Sleeping Pattern

    Genetic variants on ASB1 and EXOC6 are archaic genes that are associated with a preference for staying up late and napping during the daytime hours. The concentration of these genes increases in direct correlation to distance from the equator. The northern latitudes experience a greater shift in the day length, which affects circadian rhythm. The ASB1 and EXOC6 variants may confer a benefit to those who live in northern climates with short day-length cycles in the winter.

    Light is detected by the eyes and transmitted to the suprachiasmatic nuclei (SCN), which inhibits the production of melatonin during the day. Night owls have a delayed onset of melatonin production when light dims, delaying the sleep cycle.

    Zhiqiang Ma et. al. [CC BY 4.0 (https://creativecommons.org/licenses/by/4.0)], via Wikimedia Commons


    What were the blood types of the Neanderthals?

    Known Neanderthal range with separate populations in Europe and the Caucasus (blue), the Near East (orange), Uzbekistan (green), and the Altai region (purple)

    At any given time, there were around 30,000 Neanderthals on earth. They usually lived in groups of 25-35. That means only around 1,000 groups spread over the regions highlighted above.

    There was much diversity between them and we don’t know much about their blood types. Two specimens from the purple region were found to be Rh+/+ while two from the light blue region type O (no Rh indicated).

    The reason for “extinction” is simple:

    They were overpowered over 1,000s of years by modern humans killing the males and “mating with” the females. Neanderthal y-DNA is not present in humans today, but variations from the female haplogroups are.

    A lot of myths had been created around them which have since been taken back as usually having been proven wrong:

    Neanderthals were not cannibals and bitemarks found on Neanderthal bones came either from modern humans or animals.

    Neanderthals had higher cranial capacities than humans today and were likely far more advanced than modern humans of their time.

    Ferentinos et al suggest the evidence shows that Neanderthals not only figured out how to build boats and sail but did so quite extensively well before modern humans ever got the idea.

    Neanderthals were the first to bury their dead and often placed flowers on the graves.

    Neanderthals were attentive parents and overall shown signs of strong empathy.

    A lot of people imagine Neanderthals as hunters whose diet was dominated by meat from big game. But they actually enjoyed a diversified diet than that, eating mussels and other shellfish (which were warmed up to open their shells), fish, grass seeds like wheat and barley (which were cooked), legumes, nuts, fruits, and even bitter-tasting medicinal plants such as chamomile and yarrow.

    The following write-up is from Eupedia:

    “All Eurasian people apparently inherited various Neanderthalian genes relating to the immune system (e.g. HLA types), including genes that increased the risk for some autoimmune diseases such as type-2 diabetes and Crohn’s disease. Physical features inherited from Neanderthal by Europeans and Middle Easterners include prominent eyebrows, big eyes, strong jaws and wide shoulders. 70% of East Asians also inherited mutations in the POU2F3 gene, which is involved in keratin production and may be responsible for straightening hair.

    According to the Canadian anthropologist Peter Frost, the current level of hair colour diversity in Europe would have taken 850,000 years to develop, while Homo sapiens has been in Europe no longer than 45,000 years. This is evidence enough that genes for fair hair were inherited from interbreeding with Neanderthals.

    DNA tests demonstrated that Neanderthals possessed fair skin, and at least some subspecies had reddish hair too.

    Homo sapiens apparently did not inherit the whole light skin, light eyes and light hair package at once, but through continuous interbreeding with various Neanderthal subspecies in Europe, the Middle East and Central over tens of thousands of years. It has been confirmed that Mesolithic (Western) Europeans had blue eyes, but dark skin and dark hair.

    There are several genes influencing skin colour. Among them, the BNC2 gene, which influences saturation of skin colour and is responsible for freckling, was confirmed by Sankararaman et al. (2014) to have come from Neanderthal. It is found at varying frequencies in all Eurasian populations and is most common among Europeans (70% have at least one copy of the Neanderthalian version, against 40% for East and South Asians). Mutations in the SLC24A5 gene, responsible for 40% of skin colour variations between Europeans and sub-Saharan Africans, appear to have been spread to Europe by Neolithic farmers from the Near East and especially by the Proto-Indo-Europeans from the Pontic Steppe during the Bronze Age (more info). Mutations for blond and red hair have yet been not found in ancient European DNA samples prior to the Bronze Age, except in Northeast Europe. So it seems that fair skin and blond or red hair were originally passed on to Homo sapiens in the Middle East or Central Asia, rather than in Europe.

    As for the genes for light eyes, there is a relatively high likelihood that they were inherited from Neanderthals too, rather than having emerged independently in Europeans fairly recently. It hasn’t been proven yet that Neanderthals had blue, green or hazel eyes because only one Neanderthal sample has been fully sequenced at present. But the statistical probability that such mutations would arise and be positively selected in Neanderthals, who evolved for 300,000 years in the high latitudes of Europe, is far higher than in European Homo sapiens, who have lived for only 45,000 years in Europe, and less than 30,000 years in northern Europe. Not all Neanderthal groups would have been blue eyed, though. Neanderthals were much more genetically diverse than modern humans, who all share a recent ancestry three times earlier in time than Neanderthals subspecies between themselves. If blue eyes indeed originated in Neanderthal, different Neanderthal populations could have passed blue eyes genes several times to Homo sapiens in Europe, the Middle East or Central Asia. It’s not even granted that the two main genes, OCA2 and HERC2, were passed at the same time or to the same people. They might only have converged later in Europeans. Another alternative is that only one of these genes came from Neanderthal while the other arose in Homo sapiens.

    Mesolithic Europeans from Spain and Luxembourg have been confirmed to have possessed the HERC2 mutation for blue eyes (see Olade et al. (2014) and Lazaridis et al. (2014)). This mutation is also found in parts of Asia settled by the Proto-Indo-European speakers belonging to the paternal lineages R1a and R1b, including the Altai, southern Siberia, Central Asia, Iran and the Indian subcontinent. Since the the Proto-Indo-Europeans carried very different paternal lineages from Mesolithic Europeans (Y-haplogroups C, F, K and I), and only shared a few very old maternal lineages, like haplogroups U4 and U5, their HERC2 mutation could have been inherited from a common Paleolithic ancestor or passed on by two different groups of Neanderthals to separate tribes of Homo sapiens during the Upper Paleolithic period.”

    What are the missing links? How old is the mutation – the D gene deletion? Did in happen in different populations at different times resulting in complete gene deletions in some populations and incomplete ones in others?

    See how far away the purple area is from the rest?

    That is the Altai region where the two Rh+/+ specimens were found. Maybe they were a different tribe that didn’t have the gene deletions that others towards the west did?

    Anything is possible at this point.

    Share additional information if you have it. If you are a subscriber to the blog, you will be notified when important new studies surface.

    Have you taken a genetic test? How much Neanderthal are you shown to have?


    Here is an old, but interesting story. The famous American anthropologist Carleton S. Coon argued that some Europeans descend from the Neanderthals, could this help prove it?

    Redheads ‘are Neanderthal’.

    RED hair may be the genetic legacy of Neanderthals, scientists believe. Researchers at the John Radcliffe Institute of Molecular Medicine in Oxford say that the so-called “ginger gene” which gives people red hair, fair skin and freckles could be up to 100,000 years old.

    They claim that their discovery points to the gene having originated in Neanderthal man who lived in Europe for 200,000 years before Homo Sapien settlers, the ancestors of modern man, arrived from Africa about 40,000 years ago.

    Rosalind Harding, the research team leader, said: “The gene is certainly older than 50,000 years and it could be as old as 100,000 years. “An explanation is that it comes from Neanderthals.” It is estimated that at least 10 per cent of Scots have red hair and a further 40 per cent carry the gene responsible, which could account for their once fearsome reputation as fighters. Neanderthals have been characterised as migrant hunters and violent cannibals who probably ate most of their meat raw. They were taller and stockier than Homo Sapiens, but with shorter limbs, bigger faces and noses, receding chins and low foreheads.

    The two species overlapped for a period of time and the Oxford research appears to suggests that they must have successfully interbred for the “ginger gene” to survive. Neanderthals became extinct about 28,000 years ago, the last dying out in southern Spain and southwest France.

    © Times Newspapers Ltd, 2001.

    Source: THE TIMES UK 16/04/2001

    Scots may be directly descended from Neanderthal man.

    FROM William Wallace to the goalposts at Wembley, Scots have a fearsome reputation for causing trouble.

    Now, a team of scientists may have discovered the explanation-we inherited Neanderthal genes.

    Experts in evolution from Oxford say the key lies in the red hair for which Celts are famous.

    The team studied the origins of the gene which causes red hair and discovered it is older than the first Homo Sapien settlers to come to Europe from Africa around 30,000 years ago.

    This strongly suggests the gene must have been present in Neanderthal man, who was living in Europe long before the arrival of Homo Sapiens. The Oxford team says this points to interbreeding between Neanderthals and the new settlers, an idea which has previously been dismissed. It was originally believed that Homo Sapiens, because they were more sophisticated, simply drove out the Neanderthals to the point where they became extinct. The conclusion the team draws is that the red hair, freckles and pale skin which characterise Scots are most likely the genetic legacy of a long-dead species, known for being hairy and having prominent brows and receding foreheads. Around 10% of Scots are redheads, while an additional 40% of the population with other hair colourings carry the gene responsible for red hair.

    Dr Rosalind Harding, of the Institute of Molecular Medicine at the John Radcliffe Hospital, in Oxford, calculated the age of the ginger version of the gene, known as the melanocortin 1 receptor (MC1R), by using a complex model that looked at its mutation rate.

    She found that the gene was present 100,000 years ago-at least 70,000 years before Homo Sapiens’ migration into Europe from Africa. Harding maintains that the gene could not have originated in the sweltering heat of Africa, because natural selection would not have allowed the survival of a trait that predisposes humans to skin cancer.

    Studies have revealed that carriers of the gene are five times more sensitive to ultraviolet light than others and therefore far more likely to contract skin cancer. Given that the gene is so much older than the earliest anthropological records of Stone Age Homo Sapiens, who were responsible for the spectacular cave paintings produced around 30,000 years ago, Harding believes that MC1R must have originated in the Neanderthals.

    “The gene is certainly older than 50,000 years and it could be as old as 100,000 years,” she said. “An explanation is that it comes from the Neanderthals-the other people that were here before modern man came out of Africa.”

    Harding believes that the prevalence of the ginger gene in so many of today’s population provides evidence that early Homo sapiens bred with the Neanderthals and that many of today’s humans are descended from unions between the two species.

    So does that mean it is possible that Scottish redheads are directly descended from the Neanderthals? “It seems to be the logical conclusion to what I am saying,” said Harding. “But I don’t know if people are going to like me for saying that.”