scholarly journals Detecting Ancient Admixture in Humans Using Sequence Polymorphism Data

Genetics ◽  
2000 ◽  
Vol 154 (3) ◽  
pp. 1271-1279 ◽  
Author(s):  
Jeffrey D Wall

Abstract A debate of long-standing interest in human evolution centers around whether archaic human populations (such as the Neanderthals) have contributed to the modern gene pool. A model of ancient population structure with recent mixing is introduced, and it is determined how much information (i.e., sequence data from how many unlinked nuclear loci) would be necessary to distinguish between different demographic scenarios. It is found that ~50–100 loci are necessary if plausible parameter estimates are used. There are not enough data available at the present to support either the “single origin” or the “multiregional” model of modern human evolution. However, this information should be available in a few years.

Antiquity ◽  
1989 ◽  
Vol 63 (238) ◽  
pp. 153-159 ◽  
Author(s):  
G. A. Clark

Human origins research has had a long history of vigorous debate. Recent discussion has been no exception, the more so perhaps as the strands of evidence — anthropological, archaeological, and now molecular-biological — are sufficiently diverse that not many can be well placed to deal fairly with them all. Here issue is taken with Foley's cladistic view of human evolution, and with the ‘Garden of Eden’ hypothesis of a single source in Africa for modern human populations.


2018 ◽  
Author(s):  
Michael Dannemann ◽  
Fernando Racimo

Almost a decade ago, the sequencing of ancient DNA from archaic humans - Neanderthals and Denisovans - revealed that modern and archaic humans interbred at least twice during the Pleistocene. The field of human paleogenomics has now turned its attention towards understanding the nature of this genetic legacy in the gene pool of present-day humans. What exactly did modern humans obtain from interbreeding with Neanderthals and Denisovans? Were introgressed genetic material beneficial, neutral or maladaptive? Can differences in phenotypes among present-day human populations be explained by archaic human introgression? These questions are of prime importance for our understanding of recent human evolution, but will require careful computational modeling and extensive functional assays before they can be answered in full. Here, we review the recent literature characterizing introgressed DNA and the likely biological consequences for their modern human carriers. We focus particularly on archaic human haplotypes that were beneficial to modern humans as they expanded across the globe, and on ways to understand how populations harboring these haplotypes evolved over time.


Author(s):  
Michael Dannemann ◽  
Fernando Racimo

Almost a decade ago, the sequencing of ancient DNA from archaic humans - Neanderthals and Denisovans - revealed that modern and archaic humans interbred at least twice during the Pleistocene. The field of human paleogenomics has now turned its attention towards understanding the nature of this genetic legacy in the gene pool of present-day humans. What exactly did modern humans obtain from interbreeding with Neanderthals and Denisovans? Were introgressed genetic material beneficial, neutral or maladaptive? Can differences in phenotypes among present-day human populations be explained by archaic human introgression? These questions are of prime importance for our understanding of recent human evolution, but will require careful computational modeling and extensive functional assays before they can be answered in full. Here, we review the recent literature characterizing introgressed DNA and the likely biological consequences for their modern human carriers. We focus particularly on archaic human haplotypes that were beneficial to modern humans as they expanded across the globe, and on ways to understand how populations harboring these haplotypes evolved over time.


Science ◽  
1993 ◽  
Vol 259 (5095) ◽  
pp. 639-646 ◽  
Author(s):  
LL Cavalli-Sforza ◽  
P Menozzi ◽  
A Piazza

Geographic expansions are caused by successful innovations, biological or cultural, that favor local growth and movement. They have had a powerful effect in determining the present patterns of human genetic geography. Modern human populations expanded rapidly across the Earth in the last 100,000 years. At the end of the Paleolithic (10,000 years ago) only a few islands and other areas were unoccupied. The number of inhabitants was then about one thousand times smaller than it is now. Population densities were low throughout the Paleolithic, and random genetic drift was therefore especially effective. Major genetic differences between living human groups must have evolved at that time. Population growths that began afterward, especially with the spread of agriculture, progressively reduced the drift in population and the resulting genetic differentiation. Genetic traces of the expansions that these growths determined are still recognizable.


2019 ◽  
pp. 214-249
Author(s):  
Glenn-Peter Sætre ◽  
Mark Ravinet

How can genetics and genomics be used to understand the evolutionary history of organisms? This chapter focuses on such methods. First, the field of phylogenetics is introduced, as a way to visualize and quantify the evolutionary relationships among species. The chapter outlines how we go from aligning DNA sequence data to building gene trees and we argue that “tree-thinking” is fundamentally important for understanding evolution. The chapter also goes beyond phylogenetic trees to focus on phylogeography, i.e. the understanding of evolutionary relationships in a spatial context. More recently, the explosion of genomic data from ancient and modern human populations has made this an extremely exciting field which is transforming our understanding of our own evolutionary history. Before that, though, the chapter reviews how modern phylogenetics has arisen from historical efforts to classify life on Earth.


2018 ◽  
Author(s):  
Gustavo V. Barroso ◽  
Natasa Puzovic ◽  
Julien Y. Dutheil

ABSTRACTUnderstanding the causes and consequences of recombination rate evolution is a fundamental goal in genetics that requires recombination maps from across the tree of life. Since statistical inference of recombination maps typically depends on large samples, reaching out studies to non-model organisms requires alternative tools. Here we extend the sequentially Markovian coalescent model to jointly infer demography and the variation in recombination along a pair of genomes. Using extensive simulations and sequence data from humans, fruit-flies and a fungal pathogen, we demonstrate that iSMC accurately infers recombination maps under a wide range of scenarios – remarkably, even from a single pair of unphased genomes. We exploit this possibility and reconstruct the recombination maps of archaic hominids. We report that the evolution of the recombination landscape follows the established phylogeny of Neandertals, Denisovans and modern human populations, as expected if the genomic distribution of crossovers in hominids is largely neutral.


2018 ◽  
Author(s):  
Michael Dannemann ◽  
Fernando Racimo

Almost a decade ago, the sequencing of ancient DNA from archaic humans - Neanderthals and Denisovans - revealed that modern and archaic humans interbred at least twice during the Pleistocene. The field of human paleogenomics has now turned its attention towards understanding the nature of this genetic legacy in the gene pool of present-day humans. What exactly did modern humans obtain from interbreeding with Neanderthals and Denisovans? Were introgressed genetic material beneficial, neutral or maladaptive? Can differences in phenotypes among present-day human populations be explained by archaic human introgression? These questions are of prime importance for our understanding of recent human evolution, but will require careful computational modeling and extensive functional assays before they can be answered in full. Here, we review the recent literature characterizing introgressed DNA and the likely biological consequences for their modern human carriers. We focus particularly on archaic human haplotypes that were beneficial to modern humans as they expanded across the globe, and on ways to understand how populations harboring these haplotypes evolved over time.


2021 ◽  
pp. 122-138
Author(s):  
Emily T. Norris ◽  
Lavanya Rishishwar ◽  
I. King Jordan

Humans have migrated from their ancestral homelands in Africa to nearly every part of the world. Human migration is characterized by a recurrent process of physical isolation and genetic diversification followed by admixture, whereby previously isolated populations come together and exchange genes. Admixture results in the introgression of alleles from ancestral source populations into hybrid admixed populations, and introgression can facilitate rapid, adaptive evolution by introducing beneficial alleles at intermediate frequencies. We provide examples of adaptive introgression between archaic and modern human populations and for admixed populations in the Americas, which were formed relatively recently via admixture among African, European, and Indigenous American ancestral populations. Adaptive introgression has had an outsized effect on the human immune system. In light of the ubiquity of admixture in human evolution, we propose that adaptive introgression is a fundamentally important mechanism for driving rapid, adaptive evolution in human populations.


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