scholarly journals Neanderthal-Denisovan ancestors interbred with a distantly-related hominin

2019 ◽  
Author(s):  
Alan R. Rogers ◽  
Nathan S. Harris ◽  
Alan A. Achenbach
Keyword(s):  
Population Size ◽  
Effective Size ◽  
Middle Pleistocene ◽  
Human Populations ◽  
Modern Humans ◽  
Out Of Africa

Previous research has shown that modern Eurasians interbred with their Neanderthal and Denisovan predecessors. We show here that hundreds of thousands of years earlier, the ancestors of Neanderthals and Denisovans interbred with their own Eurasian predecessors—members of a “superarchaic” population that separated from other humans about 2 mya. The superarchaic population was large, with an effective size between 20 and 50 thousand individuals. We confirm previous findings that: (1) Denisovans also interbred with superarchaics, (2) Neanderthals and Denisovans separated early in the middle Pleistocene, (3) their ancestors endured a bottleneck of population size, and (4) the Neanderthal population was large at first but then declined in size. We provide qualified support for the view that (5) Neanderthals interbred with the ancestors of modern humans.One-sentence summaryWe document the earliest known interbreeding between ancient human populations and an expansion out of Africa early in the middle Pleistocene.

scholarly journals Neanderthal-Denisovan ancestors interbred with a distantly related hominin

2020 ◽  
Vol 6 (8) ◽  
pp. eaay5483 ◽  
Author(s):  
Alan R. Rogers ◽  
Nathan S. Harris ◽  
Alan A. Achenbach
Keyword(s):  
Population Size ◽  
Effective Size ◽  
Middle Pleistocene ◽  
Modern Humans

Previous research has shown that modern Eurasians interbred with their Neanderthal and Denisovan predecessors. We show here that hundreds of thousands of years earlier, the ancestors of Neanderthals and Denisovans interbred with their own Eurasian predecessors—members of a “superarchaic” population that separated from other humans about 2 million years ago. The superarchaic population was large, with an effective size between 20 and 50 thousand individuals. We confirm previous findings that (i) Denisovans also interbred with superarchaics, (ii) Neanderthals and Denisovans separated early in the middle Pleistocene, (iii) their ancestors endured a bottleneck of population size, and (iv) the Neanderthal population was large at first but then declined in size. We provide qualified support for the view that (v) Neanderthals interbred with the ancestors of modern humans.

scholarly journals The unidirectional phylogeny of Homo sapiens anchors the origin of modern humans in Eurasia

Hereditas ◽  
2021 ◽  
Vol 158 (1) ◽  
Author(s):  
Úlfur Árnason
Keyword(s):  
Nuclear Dna ◽  
Maternal Inheritance ◽  
Homo Sapiens ◽  
Human Populations ◽  
Before Present ◽  
Modern Humans ◽  
Origin Of Modern Humans ◽  
The Common ◽  
Out Of Africa ◽  
Mtdna Introgression

Abstract Background The Out of Africa hypothesis, OOAH, was challenged recently in an extended mtDNA analysis, PPA (Progressive Phylogenetic Analysis), that identified the African human populations as paraphyletic, a finding that contradicted the common OOAH understanding that Hss had originated in Africa and invaded Eurasia from there. The results were consistent with the molecular Out of Eurasia hypothesis, OOEH, and Eurasian palaeontology, a subject that has been largely disregarded in the discussion of OOAH. Results In the present study the mtDNA tree, a phylogeny based on maternal inheritance, was compared to the nuclear DNA tree of the paternally transmitted Y-chromosome haplotypes, Y-DNAs. The comparison showed full phylogenetic coherence between these two separate sets of data. The results were consistent with potentially four translocations of modern humans from Eurasia into Africa, the earliest taking place ≈ 250,000 years before present, YBP. The results were in accordance with the postulates behind OOEH at the same time as they lent no support to the OOAH. Conclusions The conformity between the mtDNA and Y-DNA phylogenies of Hss is consistent with the understanding that Eurasia was the donor and not the receiver in human evolution. The evolutionary problems related to OOAH became similarly exposed by the mtDNA introgression that took place from Hss into Neanderthals ≈ 500,000 YBP, a circumstance that demonstrated the early coexistence of the two lineages in Eurasia.

The Morphological and Behavioural Origins of Modern Humans

2004 ◽  
Author(s):  
Chris Stringer
Keyword(s):  
Homo Sapiens ◽  
Modern Human ◽  
Human Behaviour ◽  
Genetic Evidence ◽  
Middle Pleistocene ◽  
African Origin ◽  
Modern Humans ◽  
Speciation Event ◽  
Out Of Africa

This chapter provides an update on the speciation of modern Homo sapiens and the Out of Africa hypothesis. The majority of the fossil and genetic evidence favours an African origin for modern humans during the later part of the Middle Pleistocene (prior to 130,000 years ago), and one or more range expansions out of Africa after that date. However, a number of uncertainties remain. If there was a speciation event at the appearance of modern humans, what was its nature? Furthermore, did the evolution of modern human behaviour occur gradually or punctuationally? The discussion examines the difficulties faced in defining what is meant by ‘modern’ humans, and in reconstructing the morphological and behavioural origins of our species.

scholarly journals Human paternal and maternal demographic histories: insights from high-resolution Y chromosome and mtDNA sequences

2014 ◽  
Author(s):  
Sebastian Lippold ◽  
Hongyang Xu ◽  
Albert Ko ◽  
Mingkun Li ◽  
Gabriel Renaud ◽  
...  
Keyword(s):  
Population Size ◽  
Effective Population Size ◽  
Y Chromosome ◽  
Global Scale ◽  
Human Populations ◽  
Effective Population ◽  
Population Sizes ◽  
History Of ◽  
Out Of Africa ◽  
Complete Mtdna

To investigate in detail the paternal and maternal demographic histories of humans, we obtained ~500 kb of non-recombining Y chromosome (NRY) sequences and complete mtDNA genome sequences from 623 males from 51 populations in the CEPH Human Genome Diversity Panel (HGDP). Our results: confirm the controversial assertion that genetic differences between human populations on a global scale are bigger for the NRY than for mtDNA; suggest very small ancestral effective population sizes (<100) for the out-of-Africa migration as well as for many human populations; and indicate that the ratio of female effective population size to male effective population size (Nf/Nm) has been greater than one throughout the history of modern humans, and has recently increased due to faster growth in Nf. However, we also find substantial differences in patterns of mtDNA vs. NRY variation in different regional groups; thus, global patterns of variation are not necessarily representative of specific geographic regions.

scholarly journals Genetic and climatic factors in the dispersal of Anatomically Modern Humans Out of Africa

2021 ◽  
Author(s):  
Raymond Tobler ◽  
Yassine Souilmi ◽  
Christian Huber ◽  
Nigel Bean ◽  
Chris Turney ◽  
...  
Keyword(s):  
Climatic Factors ◽  
Genetic Admixture ◽  
Human Populations ◽  
Genetic Adaptation ◽  
Modern Humans ◽  
Strong Selection ◽  
Skin Physiology ◽  
Anatomically Modern Humans ◽  
Out Of Africa ◽  
Genetic Signatures

Abstract The evolutionarily recent dispersal of Anatomically Modern Humans (AMH) out of Africa and across Eurasia provides an opportunity to study rapid genetic adaptation to multiple new environments. Genomic analyses of modern human populations have detected limited signals of strong selection such as hard sweeps, but genetic admixture between populations is capable of obscuring these patterns and is well known in recent human history, such as during the Bronze Age4. Here we show that ancient human genomic datasets contain multiple genetic signatures of strong selection including 57 hard sweeps, many with strong associations with cold adaptation. Similar genetic signatures of adaptation are also observed in adaptively-introgressed archaic hominin loci, as well as modern Arctic human groups. Consistent targets include the regulation of fat storage, skin physiology, cilia function and neural development; with multiple associations to modern western diseases. The spatiotemporal patterns of the hard sweeps allow reconstruction of early AMH population dispersals, and reveal a prolonged period of genetic adaptation (~80-50,000 years) following their initial out of Africa movement, before a rapid spread across Eurasia reaching as far as Australia.

scholarly journals Selective sweep for an enhancer involucrin allele identifies skin barrier adaptation out of Africa

2021 ◽  
Vol 12 (1) ◽  
Author(s):  
Mary Elizabeth Mathyer ◽  
Erin A. Brettmann ◽  
Alina D. Schmidt ◽  
Zane A. Goodwin ◽  
Inez Y. Oh ◽  
...  
Keyword(s):  
Selective Sweep ◽  
Skin Barrier ◽  
Human Migration ◽  
Epidermal Differentiation ◽  
Human Populations ◽  
Epidermal Differentiation Complex ◽  
Regulatory Module ◽  
Reporter Assays ◽  
Out Of Africa

AbstractThe genetic modules that contribute to human evolution are poorly understood. Here we investigate positive selection in the Epidermal Differentiation Complex locus for skin barrier adaptation in diverse HapMap human populations (CEU, JPT/CHB, and YRI). Using Composite of Multiple Signals and iSAFE, we identify selective sweeps for LCE1A-SMCP and involucrin (IVL) haplotypes associated with human migration out-of-Africa, reaching near fixation in European populations. CEU-IVL is associated with increased IVL expression and a known epidermis-specific enhancer. CRISPR/Cas9 deletion of the orthologous mouse enhancer in vivo reveals a functional requirement for the enhancer to regulate Ivl expression in cis. Reporter assays confirm increased regulatory and additive enhancer effects of CEU-specific polymorphisms identified at predicted IRF1 and NFIC binding sites in the IVL enhancer (rs4845327) and its promoter (rs1854779). Together, our results identify a selective sweep for a cis regulatory module for CEU-IVL, highlighting human skin barrier evolution for increased IVL expression out-of-Africa.

scholarly journals Alu Evolution in Human Populations: Using the Coalescent to Estimate Effective Population Size

Genetics ◽  
1997 ◽  
Vol 147 (4) ◽  
pp. 1977-1982
Author(s):  
Stephen T Sherry ◽  
Henry C Harpending ◽  
Mark A Batzer ◽  
Mark Stoneking
Keyword(s):  
Population Size ◽  
Effective Population Size ◽  
Genomic Library ◽  
Diploid Cell ◽  
Human Populations ◽  
Effective Population ◽  
Alu Repeats ◽  
Branch Lengths ◽  
Diploid Cell Line ◽  
Coalescence Theory

Abstract There are estimated to be ~1000 members of the Ya5 Alu subfamily of retroposons in humans. This Subfamily has a distribution restricted to humans, with a few copies in gorillas and chimpanzees. Fifty-seven Ya5 elements were previously cloned from a HeLaderived randomly sheared total genomic library, sequenced, and screened for polymorphism in a panel of 120 unrelated humans. Forty-four of the 57 cloned Alu repeats were monomorphic in the sample and 13 Alu repeats were dimorphic for insertion presence/absence. The observed distribution of sample frequencies of the 13 dimorphic elements is consistent with the theoretical expectation for elements ascertained in a single diploid cell line. Coalescence theory is used to compute expected total pedigree branch lengths for monomorphic and dimorphic elements, leading to an estimate of human effective population size of ~18,000 during the last one to two million years.

A Neutral Model With Fluctuating Population Size and Its Effective Size

Genetics ◽  
2002 ◽  
Vol 161 (1) ◽  
pp. 381-388
Author(s):  
Masaru Iizuka ◽  
Hidenori Tachida ◽  
Hirotsugu Matsuda
Keyword(s):  
Asymptotic Behavior ◽  
Population Size ◽  
Diffusion Model ◽  
Arithmetic Mean ◽  
Harmonic Mean ◽  
Effective Size ◽  
Neutral Model ◽  
Average Heterozygosity ◽  
Special Case ◽  
Concrete Model

Abstract We consider a diffusion model with neutral alleles whose population size is fluctuating randomly. For this model, the effects of fluctuation of population size on the effective size are investigated. The effective size defined by the equilibrium average heterozygosity is larger than the harmonic mean of population size but smaller than the arithmetic mean of population size. To see explicitly the effects of fluctuation of population size on the effective size, we investigate a special case where population size fluctuates between two distinct states. In some cases, the effective size is very different from the harmonic mean. For this concrete model, we also obtain the stationary distribution of the average heterozygosity. Asymptotic behavior of the effective size is obtained when the population size is large and/or autocorrelation of the fluctuation is weak or strong.

scholarly journals Different historical generation intervals in human populations inferred from Neanderthal fragment lengths and patterns of mutation accumulation

2021 ◽  
Author(s):  
Moisès Coll Macià ◽  
Laurits Skov ◽  
Benjamin Marco Peter ◽  
Mikkel Heide Schierup
Keyword(s):  
Fragment Length ◽  
Human Populations ◽  
Female Age ◽  
Generation Interval ◽  
The Past ◽  
Geographical Regions ◽  
Neanderthal Admixture ◽  
Rate Of Decay ◽  
Out Of Africa ◽  
Insight Into

AbstractAfter the main out-of-Africa event, humans interbred with Neanderthals leaving 1-2% of Neanderthal DNA scattered in small fragments in all non-African genomes today1,2. Here we investigate the size distribution of these fragments in non-African genomes3. We find consistent differences in fragment length distributions across Eurasia with 11% longer fragments in East Asians than in West Eurasians. By comparing extant populations and ancient samples, we show that these differences are due to a different rate of decay in length by recombination since the Neanderthal admixture. In line with this, we observe a strong correlation between the average fragment length and the accumulation of derived mutations, similar to what is expected by changing the ages at reproduction as estimated from trio studies4. Altogether, our results suggest consistent differences in the generation interval across Eurasia, by up to 20% (e.g. 25 versus 30 years), over the past 40,000 years. We use sex-specific accumulations of derived alleles to infer how these changes in generation intervals between geographical regions could have been mainly driven by shifts in either male or female age of reproduction, or both. We also find that previously reported variation in the mutational spectrum5 may be largely explained by changes to the generation interval and not by changes to the underlying mutational mechanism. We conclude that Neanderthal fragment lengths provide unique insight into differences of a key demographic parameter among human populations over the recent history.

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