Reconstructing human origins in the genomic era

  title={Reconstructing human origins in the genomic era},
  author={Daniel Garrigan and Michael F. Hammer},
  journal={Nature Reviews Genetics},
Analyses of recently acquired genomic sequence data are leading to important insights into the early evolution of anatomically modern humans, as well as into the more recent demographic processes that accompanied the global radiation of Homo sapiens. Some of the new results contradict early, but still influential, conclusions that were based on analyses of gene trees from mitochondrial DNA and Y-chromosome sequences. In this review, we discuss the different genetic and statistical methods that… 
Ancient humans and the origin of modern humans.
Reconstructing Human History Using Autosomal, Y-Chromosomal and Mitochondrial Markers
This review highlights some major findings in genetic studies of human history using genetic markers and inferences made on history of human populations based on these markers in the context of evidence from other fields.
Deep divergences of human gene trees and models of human origins.
It is shown that an ancient bottleneck in the Middle Pleistocene, possibly arising from an ancestral structured population, can reconcile the contradictory findings from the mitochondrion on the one hand, with the autosomes and the X chromosome on the other hand.
Reconstructing Human History Using Autosomal, Y‐Chromosomal and Mitochondrial Markers
Current evidence suggests a recent African origin for modern humans <200 thousand years ago (KYA) and a single small migration out of Africa 50–70 KYA, with progressive loss of diversity with distance from Africa, somewhat complicated by sex-specific effects and natural selection.
Incorporating recombination into the study of recent human evolutionary history
A novel method called IRiS is developed that allows detecting specific past recombination events in a set of extant sequences and it is applied to a whole set of different human populations within the Old World that were specifically genotyped for this end.
Ancient lineages in the genome: A response to Fagundes et al.
To the Editor: In their recent report (1), Fagundes et al. support a model of human evolution in which anatomically modern humans completely replace all local archaic populations of the genus Homo .
Formulating a Historical and Demographic Model of Recent Human Evolution Based on Resequencing Data from Noncoding Regions
The results support a model in which modern humans left Africa through a single major dispersal event occurring ∼60,000 years ago, corresponding to a drastic reduction of ∼5 times the effective population size of the ancestral African population of ∼13,800 individuals.
Early modern human diversity suggests subdivided population structure and a complex out-of-Africa scenario
It is suggested that early modern humans were already divided into different populations in Pleistocene Africa, after which there followed a complex migration pattern.
Challenges in human genetic diversity: demographic history and adaptation.
Genome-wide searches for signals of selection, plus studies of specific candidate loci and candidate phenotypes, have identified genes that show population differences due to adaptation to pathogens, climate, diet and possibly cognitive challenges.
Use of y chromosome and mitochondrial DNA population structure in tracing human migrations.
This work compares and contrast uniparentally inherited loci for patterns of continuity and discreteness and discusses how their phylogenetic diversity and progression provide means to disentangle ancient colonization events by pioneering migrants from subsequent overlying migrations.


Possible Ancestral Structure in Human Populations
Using sequence data from the Environmental Genome Project, strong evidence is found for ancient admixture in both a European and a West African population, with contributions to the modern gene pool of at least 5%.
Genetic perspectives on human origins and differentiation.
The issue of whether or not a population size bottleneck occurred among the authors' ancestors is under debate among geneticists as well as among anthropologists, and the Garden of Eden model of the origin of modern humans is confirmed.
A structured ancestral population for the evolution of modern humans.
Genetic and fossil evidence for the origin of modern humans.
Genetic data on present human population relationships and data from the Pleistocene fossil hominid record are used to compare two contrasting models for the origin of modern humans.
Human demographic history: refining the recent African origin model.
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Branching pattern in the evolutionary tree for human mitochondrial DNA.
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  • Biology
    Proceedings of the National Academy of Sciences of the United States of America
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Eighty-eight types of mitochondrial DNA were found by sequencing the most variable part of the control region from 117 Caucasians, implying that the probability of survival of new lineages has undergone dramatic changes, probably due to population expansion.
Y chromosome sequence variation and the history of human populations
Binary polymorphisms associated with the non-recombining region of the human Y chromosome (NRY) preserve the paternal genetic legacy of our species that has persisted to the present, permitting
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The multiregional hypothesis based solely on the premise that there was more than one founding population in the Pleistocene may account for the observed African ancestry in 90% of the genomic regions.
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Co-evolution of genes with language and some slowly evolving cultural traits, together with the genetic evolution of commensals and parasites that have accompanied modern humans in their expansion from Africa to the other continents, supports and supplements the standard model of genetic evolution.
Evidence for archaic Asian ancestry on the human X chromosome.
The human RRM2P4 pseudogene has a pattern of nucleotide polymorphism that is unlike any locus published to date and is a remnant of introgressive hybridization between expanding anatomically modern humans emerging from Africa and archaic populations in Eurasia.