Neanderthal admixture theory

Neanderthal admixture theory

Various theories of Neanderthal admixture in modern human DNA, i.e. the result of interbreeding of Neanderthals and anatomically modern humans during the Middle Paleolithic has been debated throughout the 20th century, and in terms of genetics throughout the 2000s.[1][2]

In May 2010, the Neanderthal Genome Project presented preliminary genetic evidence that interbreeding did likely take place and that a small but significant portion of Neanderthal admixture is present in modern non-African populations. The interbreeding hypothesis is a controversially discussed scenario of Neanderthal extinction, the disappearance of Neanderthal traits from the fossil record about 30,000 years ago.



The hypothesis, variously under the names of interbreeding, hybridization, admixture or hybrid-origin theory, has been discussed ever since the discovery of Neanderthal remains in 19th century, though earlier writers believed that Neanderthals were a direct ancestor of modern humans. Thomas Huxley suggested that many Europeans bore traces of Neanderthal ancestry, but associated Neanderthal characteristics with primitivism, writing that since they "belong to a stage in the development of the human species, antecedent to the differentiation of any of the existing races, we may expect to find them in the lowest of these races, all over the world, and in the early stages of all races."[3]

In the early twentieth century, Carleton Coon argued that the Caucasoid race is of dual origin consisting of Upper Paleolithic (mixture of H. sapiens and neanderthalensis) types and Mediterranean (purely H. sapiens) types. He repeated his theory in his 1962 book The Origin of Races.[4]

Stan Gooch in Personality and Evolution (1973) and The Neanderthal Question (1977) develops a theory of Neanderthal/Cro-Magnon hybridization, based not on an examination of anatomy but of his understanding of modern human psychology and society, which he claimed owes a significant debt to Neanderthal culture. Gooch's theories were dismissed by the academic establishment. Gooch refined his theory in Cities of Dreams (1989) and The Neanderthal Legacy (2008).

The focus of the debate shifted from the study of anatomy to archaeogenetics in the 2000s and to the study of ancient DNA with the Neanderthal Genome Project, beginning in 2006.

The question of Neanderthal/Cro-Magnon hybridization is reflected in 20th century popular culture, in works such as La Guerre du feu (1911), Dance of the Tiger (1978, 1980) by Finnish palaeontologist Björn Kurtén, and the Earth's Children series by Jean M. Auel, published from 1980.


A draft sequence publication by the Neanderthal Genome Project in May 2010 indicates that Neanderthals share more genetic lineages with Non-African populations than with African populations. According to the study, this scenario is best explained by gene flow from Neanderthals to modern humans after humans emerged from Africa. An estimated 1 to 4 percent of the DNA in Europeans and Asians (i.e. French, Chinese and Papua probands) is non-modern, and shared with ancient Neanderthal DNA rather than with Sub-Saharan Africans (i.e. Yoruba and San probands). Though less parsimonious than gene flow, ancient sub-structure in Africa, could account for the higher levels of Neanderthal lineages detected in Eurasians. [5]

No evidence supporting this has been found in mitochondrial DNA analyses of modern Europeans, suggesting at least that no direct maternal line originating with Neanderthals has survived into modern times.[6][7][8]

Variation in microcephalin, a critical regulator of brain size whose loss-of-function by damaging mutations may also cause primary microcephaly, was claimed to be the strongest evidence of admixture as of 2007. One type of the gene, known as D, has a high worldwide frequency (~70%), but a young coalescence age to its most recent common ancestor, ~37,000 years ago. The remaining types (non-D) coalesce to ~990,000 years ago, while the separation time between D and non-D is estimated at ~1,100,000 years ago. An evolutionary advantage of D is possible but controversial.[9]

The distribution of the D allele, high outside Africa but low in sub-Saharan Africa (29%), has been suggested to indicate involvement of an archaic Eurasian population, and current estimates of the divergence time between modern humans and Neanderthals based on mitochondrial DNA are in favor of the Neanderthal lineage as the most likely archaic Homo population from which introgression into the modern human gene pool took place.[10][11] However, according to Svante Pääbo, ancient DNA from Croatian Neanderthal fossils found at Vindija shows that they carried the non-D allele of microcephalin, and there is no evidence for admixture or introgression.[12][13] However a study published in May 2010 found that a Neanderthal individual from Mezzena Rockshelter (Monti Lessini, Italy), possessed the ancestral version of D, rather than the derived version which is common among Eurasian populations. The study did not rule out interbreeding between Neanderthals and modern humans, but indicates that the particular DNA sample provides no support to the theory that Neanderthals contributed the derived allele of D to modern humans.[14]

Based on a 2001 study of the gene that results in red-headedness,[15] some commentators speculated that Neanderthals had red hair and that some red-headed and freckled humans today share some heritage with Neanderthals.[16][17] A 2007 study analysing Neanderthal DNA found that some Neanderthals were red-haired, but the mutation to the MC1R gene which caused red hair in Neanderthals is not found in modern humans.[18]

There is evidence that some immune related genes are of Neanderthal origin. HLA-C*0702 is common in modern Europeans and Asians but never seen in Africans, but is found in Neanderthals. It is thought that this immune gene may have been picked up by humans after leaving Africa to help deal with European diseases that the Neanderthals had evolved defenses for.[19]


The most vocal proponent of the hybridization hypothesis on anatomical grounds has been Erik Trinkaus of Washington University.[20] Trinkaus claims various fossils as hybrid individuals, including the "child of Lagar Velho", a skeleton found at Lagar Velho in Portugal dated to about 24,000 years ago.[21] In a 2006 publication co-authored by Trinkaus, the fossils found in 1952 in the cave of Pestera Muierii, Romania, are likewise claimed as hybrids. [22]

In his work Neanderthal, Paul Jordan points out that without some interbreeding, certain features on some "modern" skulls of Eastern European Cro-Magnon heritage are hard to explain.[23] In another study, researchers have recently found in Peştera Muierilor, Romania, remains of European humans from 30 thousand years ago who possessed mostly diagnostic "modern" anatomical features, but also had distinct Neanderthal features not present in ancestral modern humans in Africa, including a large bulge at the back of the skull, a more prominent projection around the elbow joint, and a narrow socket at the shoulder joint. Analysis of one skeleton's shoulder showed that these humans, like Neanderthal, did not have the full capability for throwing spears.[24]

The paleontological analysis of modern-human emergence in Europe has been shifting from considerations of the Neanderthals to assessments of the biology and chronology of the earliest modern humans in western Eurasia. This focus, involving morphologically modern humans before 28,000 years ago, shows accumulating evidence that they present a variable mosaic of derived modern human, archaic human, and Neanderthal features.[22][25][26] Studies of fossils from the upper levels of the Sima de las Palomas, Murcia, Spain, dated to 40,000 years ago, establish the late persistence of Neanderthals in Iberia. This reinforces the conclusion that the Neanderthals were not merely swept away by advancing modern humans. In addition, the Palomas Neanderthals variably exhibit a series of modern-human features rare or absent in earlier Neanderthals. Either they were evolving on their own towards the modern-human pattern, or more likely, they had contact with early modern humans around the Pyrenees. If the latter is the case, it implies that the persistence of the Middle Paleolithic in Iberia was a matter of choice, and not cultural retardation.[27]

Modern-human findings in Abrigo do Lagar Velho, Portugal, of 24,500 years ago, allegedly featuring Neanderthal admixtures, have been published.[28] However the interpretation of the Portuguese specimen is disputed.[29]


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  13. ^ Gitlin, Jonathan M. (23 February 2009). "A Neanderthal in the family: working with ancient DNA". Ars Technica. Retrieved 2009-10-11. 
  14. ^ Lari, Martina; Rizzi, Ermanno; Milani, Lucio; Corti, Giorgio; Balsamo, Carlotta; Vai, Stefania; Catalano, Giulio; Pilli, Elena et al. (2010). "The Microcephalin Ancestral Allele in a Neanderthal Individual". PLoS ONE (PLoS ONE) 5 (5): e10648. Bibcode 2010PLoSO...510648L. doi:10.1371/journal.pone.0010648. PMC 2871044. PMID 20498832. 
  15. ^ Red hair a legacy of Neanderthal man
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  17. ^ "Nicole's hair secrets". The Daily Telegraph (London). 2002-02-10. Archived from the original on 11 december 2005. Retrieved 2005-11-02. 
  18. ^ Paul Rincon, Neanderthals 'were flame-haired' BBC 25 October 2007.
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  20. ^ Dan Jones: The Neanderthal within., New Scientist 193.2007, H. 2593 (3 March), 28–32. Modern Humans, Neanderthals May Have Interbred; Humans and Neanderthals interbred
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