After having obtained a degree in biochemistry, Leah works for a small biotechnology company and enjoys writing about science.
Neanderthal Genes Influencing Human Traits
No one knows precisely why Neanderthals died out 40,000 years ago, but we do know there was some intermarriage between their community and our ancestors. Many of these genes have been purged from the modern human population over time due to natural selection, so the current prevalence is only 1–4% of the current human genome.
While the prevalence of genes from Neanderthals is rare in humans (<2% in non-African populations), these genes still contribute to different physical characteristics. The inherited traits from the Neanderthal population sometimes offer benefits, and sometimes are linked to disease-causing traits. The vast majority of the identified genes remaining in the non-African population are associated with hair and skin color. Genes with a Neanderthal origin are called archaic genes.
A common question arising from the intermarriage of humans and Neanderthals is the question of fertility among the offspring of these unions. The evidence (Sankararaman, S. et. al., 2016) indicates that the hybrid children were less fertile, as the prevalence of Neanderthal genes on the X chromosome is fewer than those found on the autosomal (non-sex) chromosomes. This finding is due to natural selection, which suggests the Neanderthal genes on this chromosome impaired fertility and has become reduced over time as the X chromosomes with more human genes produced more fertile males.
In general, genes that conferred a benefit to the human population remained, and genes that caused harm were eliminated over time.
8 Traits Humans and Neanderthals Have in Common
- Hair Color and Type
- Immune System Benefits
- Sleeping Patterns
- Depression and Addiction
- Blood Clotting Issues
- Protein Malnutrition
- Eye Color
- Light and Dark Skin
Neanderthal Range in Europe and Asia
How Do We Know Which Genes Come From Neanderthals?
The genomes of several Neanderthals have been fully sequenced, allowing researchers to compare the genomes of modern-day humans alongside the archaic genes. In addition, researchers compare the genomes of people from sub-Saharan Africa, which contain absolutely no archaic genes as this population never existed in Africa. Since the human population migrated out of Africa, once hybridization occurred with Neanderthals, the population spread outward to Europe and Asia. Human populations in Europe, Asia, and Oceana contain the highest percentage of archaic genes (though this is still a small percentage).
By comparing the genomes which contain no traces of Neanderthal genes, the fully sequenced archaic genomes, and the genetics of modern-day Europeans, scientists can piece together which genes are derived from a Neanderthal ancestor.
Selected Genetic Alterations From Archaic Genes
|Physical Characteristic||Genes Affected by Neanderthal Alleles|
Tendency to have blood clots (DVT)
Delayed Sleep Period
Did Red Hair Come From Neanderthals?
A common urban myth states that red hair in humans comes from Neanderthals. Humans in today’s world generally have mutations on the melanocortin (MC1R) gene that causes an over-production of pheomelanin, which produces a red hair color. A second theory is that a separate gene that reduces the functionality of the MC1R gene is from Neanderthals (p.Arg307Gly), but none of these mutations have been observed in the fully sequenced genomes from two Neanderthals. In short, those with ginger hair in today’s world do not appear to have inherited the trait from Neanderthals.
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1. Hair Color and Type
Several overlapping genes for both the human and Neanderthal populations are linked to both blonde and dark hair. It appears that Neanderthals were as varied in skin tone and hair tone as modern-day humans, and it is impossible to identify the presence of an archaic genome by observing a current human’s hair or skin color. The formation of hair, which largely involves the production of keratin, is influenced by archaic genes. Two primary conditions remain in humans from our Neanderthal ancestors:
- Actinic Keratosis is caused by damage from exposure to ultraviolet light. This is a pre-cancerous condition and causes scaly bumps on a person’s skin surface. If left untreated, this skin lesion may develop into Squamous Cell Carcinoma.
- Seborrheic Keratosis are completely harmless skin growths that can range in color from tan to black. These growths are sometimes referred to as “barnacles.”
2. Immune System Benefits
Over 31 genes involved with the immune system in modern-day humans are derived from an archaic ancestry. The continued existence of these genes indicates they are beneficial and protective against different forms of infection. Specific mutations that help defeat viral infections are present in both populations. The OAS1, OAS2, and OAS3 genetic changes inherited from the Neanderthals increase the activity of the anti-viral genes, which helps humans overcome contagious diseases.
Another inherited genetic mutation is called the TLR1/6/10 haplotype. This variation is found in the highest concentration in East Asia and confers resistance to H. pylori and stomach ulcers. People who have this variant may also be more prone to allergies.
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.
4. A Tendency for Depression From Archaic Genes
The same genetic inheritance regarding circadian rhythms is also associated with an increased level of chronic depression. Lack of sunlight is a known cause of depression among humans living in northern latitudes, and the prevalence of some of the mutations increases the farther a population is from the equator. Neanderthal alleles near the CDH6 gene are associated with an increased frequency of feeling unenthused and apathetic.
Addiction to substances such as tobacco is also influenced by these genes. While prevalent in less than 0.5% of the European population, one variant on the SLC6A11 gene increases the likelihood of addiction and is a positive predictor of smoking behavior.
5. Blood Clotting Issues and Deep Vein Thrombosis
In the European population, approximately 6.5% of people have a mutation on the SELP gene that increases a tendency to form blood clots. This gene is responsible for a protein that causes cells and platelets to adhere to wound areas and to inflamed blood vessels.
Another archaic variant is for a gene encoding the Factor V protein. This mutation is separate from the most common genetic cause of blood clots in Europeans (Factor V Leiden). Those who have the rs3917862 allele have an increased rate of having thrombosis. When a person has both the Factor V Leiden mutation and the Neanderthal derived mutation, the risk of having a deep vein thrombosis is increased to a higher level than observed with the Factor V Leiden mutation alone.
6. Protein-Calorie Malnutrition
Neanderthals ate a diet high in protein and low in carbohydrates. Thiamine is a nutrient primarily found in beef, liver, eggs, and other protein-rich foods. One archaic allele on SLC35F3 produces a thiamine transporting protein. This activity of the transporting protein was reduced in Neanderthals, who ate a diet highly rich in the nutrient.
The presence of the archaic mutation can increase the chance of malnutrition, as the amount of thiamine (vitamin B1) available to the body is reduced for those who consume a diet high in refined carbohydrates. Unfortunately, since modern refinement practices reduce the amount of thiamine available in grains to begin with, humans with this mutation may be at a risk of this deficiency, also known as “beriberi.” This condition is known as “high-calorie malnutrition,” as the person is obtaining enough calories, but is not getting enough of a particular nutrient for body functions to work correctly.
Thiamine Deficiency can cause dysautonomia, including Postural Orthostatic Tachycardia Syndrome, or POTS. Other disorders such as psychiatric disorders, swelling of the legs, vomiting, and heart failure can be caused by a vitamin B1 deficiency.
7. Eye Color
The OCA2 gene is responsible for producing hair, skin, and eye color. While people originating from Africa have over 74 genetic differences from the Neanderthal sequence for this gene, those from non-African locations only demonstrate a little over ten differences from the archaic genome. This indicates a rather recent influx of Neanderthal genes into the human population that migrated out of Africa.
One mutation that is consistent between the Neanderthals and modern-day humans is a mutation on OCA2 that produces a blue eye color. The origin of blue eye color, however, does not arise solely due to the presence of archaic genes. Modern-day humans also have mutations causing a blue eye color that are not present in the Neanderthals, so the origin of blue eyes is likely due to a multitude of factors.
8. Both Light and Dark Skin Inherited From Neanderthals
Both light and dark skin tones are observed in inheritance from the Neanderthal population. This indicates that this group had variations in skin tone, similar to modern humans.
Some alleles on the BNC2 gene are archaic and are derived from the Neanderthal population. This genetic variation causes increased susceptibility to sunburn and is present in up to 66% of the European population. In addition to increasing the risk for sunburn, this variant causes skin lesions due to keratosis. This gene is responsible for a lighter skin tone and an increased ability to process Vitamin D in low-sunlight conditions. These genetic mutations also cause an increase in susceptibility to skin cancer.
Interestingly, a smaller proportion of Europeans inherited darker skin from the Neanderthals. A gene located close to the BNC2 gene is associated with increased pigmentation in the skin. Up to 19% of the identified overlapping human-Neanderthal genes are associated with this second allele that produces darker skin.
- Dannemann, M. & Kelso, J. (2017). The Contribution of Neanderthals to Phenotypic Variation in Modern Humans. The American Journal of Human Genetics, Volume 101, pp. 578-579.
- Harris, K. & Neislen, R. (2016). The Genetic Cost of Neanderthal Introgression. Genetics, Volume 203, pp. 881-891.
- Sankararaman, S., Swapan, M., Patterson, N., & Reich, D. (2016). The Combined Landscape of Denisovan and Neanderthal Ancestry in Present-Day Humans. Current Biology, Volume 26, pp. 1241-1247.
- Gittelman, R., Schraiber, J., Vernot, B., Mikacenic, C., Wurfel, M., Akey, J. (2016). Archaic Hominem Admixture Facilitated Adaptation of Out-of-Africa Environments. Current Biology, Volume 26, pp. 3375-3382.
- Simonti, C. et. al. (2014). The Phenotypic Legacy of Admixture Between Modern Humans and Neandertals. Science, Volume 343, pp. 737-741.
Questions & Answers
Question: Do blue eyes come from Neanderthals?
Answer: Blue eyes do not come from Neanderthals, and current data shows that Neanderthals had a variety of skin tones and had different eye colors (including brown). Two female Neanderthals from Croatia were studied and their genome demonstrated a likelihood that they had tawny skin, brown eyes, and brunette hair.
© 2018 Leah Lefler
Leah Lefler (author) from Western New York on August 12, 2019:
The number of genes incorporated into the human genome is fairly small, so it is unlikely that your features are due to a Neanderthal ancestor. Humans have a wide variety of features that are normal within our species, so it is more likely that your physical features are purely human, Ally. Circadian rhythm does have a correlation to some genes traced to Neanderthals, so it is possible that your sleep-wake cycle has an influence from one of these genes. Autism is a wide spectrum and has several known (human) genetic and idiopathic causes. The only way to know if you carry Neanderthal genes would be to have genetic testing carried out.
Ally on August 11, 2019:
I have Neanderthal features.. Am also Autistic and I function better during the evening in Summer when I wake up then day. Could this be related?
Leah Lefler (author) from Western New York on January 20, 2019:
Many people with European ancestry have some Neanderthal DNA. Many people also have Denisovan DNA, too, which is another humanoid species that coexisted with humans. I find human genetics very interesting, Glenn!
Glenn Stok from Long Island, NY on January 20, 2019:
I had my DNA tested with 23andMe and discovered that I am 3% Neanderthal. That made me want to know more about it and your article was perfect. You gave a lot of interesting information about the various traits inherited and their effects. Your research was excellent Leah! It left me with a better understanding of this small part of my inheritance.
Leah Lefler (author) from Western New York on December 03, 2018:
Thanks, Dianna. It is quite fascinating there is a genetic legacy from the intermarriage of humans and Neanderthals. Most of the genes that would cause damage to humans have been selected against over time, leaving mostly beneficial genes. There are some genes that are still potentially harmful, though, including those that increase inflammation risk and the risk of having blood clots.
Dianna Mendez on December 02, 2018:
This certainly opened by eyes to the history of Neanderthals. What an interesting topic to write on and you covered it so well.