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Neanderthal-Human Hybrids Tions Split Approximately 370,000 Years Ago Paul H HYPOTHESIS 1 Neanderthal-human Hybrids tions split approximately 370,000 years ago Paul H. Mason1* and Roger V. Short2 (1). Over time, Neanderthals genetically di- verged. Analyses of mitochondrial DNA (mtD- Evidence from studies of nuclear and mitochondrial DNA extracted NA) sequences extracted from Neanderthal from Neanderthal fossils and humans points to fascinating hypotheses fossils suggest that their most recent common concerning the types of interbreeding that occurred between these two ancestry dates back to approximately 250,000 species. Humans and Neanderthals share a small percentage of nuclear years ago (2). DNA. However, humans and Neanderthals do not possess the same mito- Neanderthals inhabited a vast geographi- chondrial DNA. In mammals, mitochondrial DNA is exclusively maternally cal area extending from Portugal to west- inherited. Taking into account an understanding of interspecific hybridity, ern Siberia and from northern Europe to the the available data leads to the hypothesis that only male Neanderthals Middle East until approximately 25,000 years were able to mate with female humans. If Haldane’s Law applied to the ago (3). Recent evidence from DNA extracted progeny of Neanderthals and humans, then female hybrids would survive, from fossil Neanderthal bones reveals gene- but male hybrids would be absent, rare, or sterile. Interbreeding between flow between Neanderthals and anatomically male Neanderthals and female humans, as the only possible scenario, modern humans in the Middle East around accounts for the presence of Neanderthal nuclear DNA, the scarcity of 80,000 to 50,000 years ago as humans spread out of Africa and into Europe and Asia Neanderthal Y-linked genes, and the lack of mitochondrial DNA in modern (4). Despite morphological and ontogenetic human populations. differences to humans (5-8), it appears that Citation: Mason PH and Short RV. Neanderthal-human Hybrids. Hypothesis 2011, 9(1): e1. Neanderthals did not become extinct without 1 Corresponding author. Department of Anthropology, Macquarie University, Received: 2011/01/31; Accepted: 2011/03/17; NSW 2109, Australia. Posted online: 2011/04/18 2 Office of the Dean, Faculty of Medicine, Dentistry and Health Sciences, first contributing some of their nuclear DNA University of Melbourne, Victoria 3010, Australia. © 2011 Paul H. Mason. This is an Open Access article Email: [email protected] distributed by Hypothesis under the terms of the Creative to the human gene pool. Indeed, there was Commons Attribution License (http://creativecommons.org/ Correspondence: [email protected] licenses/by/3.0/), which permits unrestricted use, distribution, chronological overlap and coexistence be- and reproduction in any medium, provided the original work is properly cited. tween Neanderthals and humans (9,10), and hybrid specimens have been found that fea- Introduction morphologically different vocal tract, and a ture both Neanderthal and modern human Since the diScovery of the firSt recognized raised larynx. Yet, sufficient similarities have features (11-15). It appears that many centu- Neanderthal remains in 1856, scientists have led researchers to ask, “Are Neanderthals an ries of hybridization led to mosaic fossils with debated about the relationship between extinct variant of humans, or are they a sepa- human cranial and dental features mixed with Neanderthals and humans. Neanderthals rate species?” Neanderthal body proportions. were not as tall as humans, had shorter limbs, thicker bones, a protruding mid-face, An average of estimates indicates that Studies of nuclear DNA and hybrid fossils pronounced brow ridges, a receding chin, a Neanderthal and human ancestral popula- offer convincing evidence for interbreeding Hypothesis Vol. 9, No.1 | September 2011 | hypothesisjournal.com Neanderthal-human Hybrids HYPOTHESIS 2 Mason and Short between Neanderthals and humans, but with a twist. Studies of mtDNA reveal that Neanderthal-human hybrids Neanderthals carried a type of mtDNA distinct from modern humans (16-21). Mitochondria Neanderthal Family Human Family Neanderthal Family Human Family are tiny energy regulating organelles that re- produce asexually and live inside each cell of our bodies. In mammals, mitochondria are exclusively maternally inherited (22). How is it possible that Neanderthals and humans do not possess the same mtDNA, yet share a small percentage of nuclear DNA? This intriguing mix of findings leads us to contem- plate the types of interbreeding that occurred Female Human Female Neanderthal Neanderthal-Human hybrid between Neanderthals and humans. Male Human Male Neanderthal Absent, rare or sterile hybrid Understanding Interspecific Hybridity Human mtDNA Neanderthal mtDNA Speciation is the process by which new spe- cies are formed. If, for example, a species Figure 1 | Possible outcomes of Neanderthal-Human Interbreeding. Mammals contain two different types of is subdivided into two subpopulations that DNA: (i) nuclear DNA, which is from both parents and contributes directly to the phenotype, and (ii) mitochon- drial DNA, which is involved in energy regulation and is exclusively maternally inherited. Nuclear DNA from become geographically separated, then the Neanderthals has been found in the human genome. Mitochondrial DNA from Neanderthals has not been two groups may accumulate biological dif- found in humans. While not conclusive, these findings could indicate that male Neanderthals were able to re- ferences that reduce hybrid fertility. A clear produce with female humans, but that the reciprocal cross was absent, rare or sterile. If Haldane’s Law applies to Neanderthals and humans, female offspring were more common. speciation event between Neanderthals and humans has not been documented to date, speciation without loss of hybrid fertility is Mongolia and Northern China—where we but Neanderthals seem to have accrued dis- possible. find the two-humped Bactrian camel— tinctive characteristics and features along the and into India and from there into Persia second half of the Middle Pleistocene (23). Take the example of the Camelidae that origi- and Saudi Arabia—where we find the one- nated in Florida. The little ones migrated into humped Dromedary camel. The spread of the Researchers have long wondered if South America and into the Andes to become Camelidae from the Americas to the Middle Neanderthals were an entirely separate the Llama, Alpaca, Vicuna and Guanaco— East is an example of phenotypic differentia- species. Recent DNA evidence (4) might phenotypically quite different species, but tion in a sexually reproducing species as a suggest that they were not. However, even all of which will produce fertile hybrids when result of geographical isolation. Researchers if Neanderthals were a separate species, crossbred. The bigger ones migrated up the have been able to produce Camas by in- Rockies, across the Bering Strait, through seminating female Alpacas with Dromedary Hypothesis Vol. 9, No.1 | September 2011 | hypothesisjournal.com Neanderthal-human Hybrids HYPOTHESIS 3 Mason and Short semen, although the reciprocal cross gave were in comparison gracile, male Nean- survived. Nonetheless, the Neanderthal au- fetuses, but no live-born young (24,25). derthals may have had le droit de seigneur tosomes would have happily mingled and in any matings. interchanged with human autosomes, even- As Old World and New World Camelids are tually losing their identity in the process. In some 10 – 12 million years apart, we can be According to Haldane’s law, the heterogamet- a scenario previously not considered by oth- fairly certain, through inference, that ic offspring of interspecific hybrids are likely er researchers (29), if male Neanderthals Neanderthals were able to hybridize with to be absent, rare or sterile (27). In mammals, mated with female humans, Haldane’s law humans from whom they had diverged by the heterogametic sex is the male sex with would account for the apparent absence of only a few hundred thousand years. Given two different sex chromosomes, X and Y. In Neanderthal Y-linked genes in the human that mtDNA is exclusively maternally inherit- 1922, J.B.S. Haldane wrote a key paper on population. ed in mammals, the absence of Neanderthal “Sex ratio and unisexual sterility in hybrid ani- mtDNA in modern humans suggests that mals”, where he showed that fertile XY prog- Neanderthal-human Interbreeding perhaps only male Neanderthals and female eny are unlikely (28). The high mutation rate Hypothesis humans were able to produce fertile offspring. of male sex-determining genes on the Y chro- Any hypothesis about the reproductive poten- mosome may account for why nature rarely tial of Neanderthals and humans must take Incorporating Haldane’s Law permits heterogametic offspring from inter- into account data collected from the nuclear Sexual selection in humans and Great apes specific hybrids (27). and mtDNA of both species. Humans and shows that males are physically bigger and Neanderthals share a small percentage of stronger than females, hence allowing them Haldane’s law has been shown in a number of nuclear DNA, but they do not share the same to monopolize reproduction (26). Considering different hybrid crosses from the Camelidae, type of mtDNA. The mtDNA recovered from that Neanderthals were robust and humans Equidae, and Anatidae. If Haldane’s Law ap- Neanderthal fossils contains sequences not plies to the offspring of Neanderthals and hu- found in present-day humans. How can we Evidently, hybrid offspring mans, we would
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