Positive Natural Selection in the Human Lineage

  title={Positive Natural Selection in the Human Lineage},
  author={Pardis C. Sabeti and Stephen F. Schaffner and B. Fry and Jason Lohmueller and Patrick Varilly and O. Shamovsky and A. Palma and Tarjei Sigurd Mikkelsen and David Altshuler and Eric S. Lander},
  pages={1614 - 1620}
Positive natural selection is the force that drives the increase in prevalence of advantageous traits, and it has played a central role in our development as a species. Until recently, the study of natural selection in humans has largely been restricted to comparing individual candidate genes to theoretical expectations. The advent of genome-wide sequence and polymorphism data brings fundamental new tools to the study of natural selection. It is now possible to identify new candidates for… 

Positive selection in the human genome: from genome scans to biological significance.

The evidence for positive selection in the human genome and its role in human evolution and population differentiation is reviewed and challenges presented by the study of positive selection are highlighted.

Selection and adaptation in the human genome.

In this review, a summary of recent insights into how natural selection has influenced the human genome across different timescales is summarized.

The molecular signature of selection underlying human adaptations.

This review provides a detailed description of the theory and analytical approaches used to detect signatures of natural selection in the human genome, and describes the ways in which the signature of selection can be teased from a background signature of demographic history.

Gene Evolution and Human Adaptation

Regions of the human genome that have been subject to past positive selection contain patterns of genetic variation that are markedly different in specific ways from regions that have not experienced

Inferring positive selection in humans from genomic data

The two competing models of adaptation are discussed and suitable approaches for detecting the footprints of positive selection on the molecular level are discussed.

Genome-wide signals of positive selection in human evolution

Analysis of human polymorphism data from the 1000 Genomes Project suggests that adaptation was frequent in human evolution and provides support for the hypothesis of King and Wilson that adaptive divergence is primarily driven by regulatory changes.

Positive selection in the human lineage across time scales

Novel genome-wide approaches for detecting natural selection at two different points in human history are presented, extended methods to identify regulatory elements that show elevated rates of human-specific substitutions, and may thus underlie unique human phenotypes that evolved after the authors' divergence from other apes.

Constructing genomic maps of positive selection in humans: where do we go from here?

The recent history of the burgeoning field of human population genomics is chronicle, genome-wide scans for positive selection in humans are critically assessed, important gaps in knowledge are identified, and both short- and long-term strategies for traversing the path from the low-resolution, incomplete, and error-prone maps of selection today to the ultimate goal of a detailed molecular, mechanistic, phenotypic, and population genetics characterization of adaptive alleles are discussed.

Identifying Regions of the Human Genome that Exhibit Evidence for Positive Selection

An approach designed to detect recent positive selection in the human genome is explained, based on haplotype variation and linkage disequilibrium, which enables us to reconstruct the history of human genetic adaptation.



Genome-wide scans for loci under selection in humans

Evidence for geographically restricted selective pressures and a relationship between genes subject to natural selection and human disease are reviewed and several important problems that need to be addressed in future genome-wide studies of natural selection are highlighted.

Population History and Natural Selection Shape Patterns of Genetic Variation in 132 Genes

The results suggest that the migration of modern humans out of Africa into new environments was accompanied by genetic adaptations to emergent selective forces, and a region containing four contiguous genes on Chromosome 7 showed striking evidence of a recent selective sweep in European-Americans.


This work examines what effect this mode of selection has on patterns of variation at linked neutral sites by implementing a new coalescent model of positive directional selection on standing variation, and highlights the importance of an accurate characterization of the effects of positive selection, if the authors are to reliably identify recent adaptations from polymorphism data.

A Map of Recent Positive Selection in the Human Genome

A set of SNPs is developed that can be used to tag the strongest ∼250 signals of recent selection in each population, and it is found that by some measures the authors' strongest signals of selection are from the Yoruba population.

Interrogating a high-density SNP map for signatures of natural selection.

An analysis of single nucleotide polymorphisms with allele frequencies that were determined in three populations provides a first generation natural selection map of the human genome and provides compelling evidence that selection has shaped extant patterns of human genomic variation.

Detecting recent positive selection in the human genome from haplotype structure

A framework for detecting the genetic imprint of recent positive selection by analysing long-range haplotypes in human populations is introduced, and the core haplotypes carrying the proposed protective mutation stand out and show significant evidence of selection.

Signatures of natural selection in the human genome

Signs of natural selection left in the authors' genome can be used to identify genes that might underlie variation in disease resistance or drug metabolism, but these signatures are confounded by population history and by variation in local recombination rates.

Methods to detect selection in populations with applications to the human.

  • M. Kreitman
  • Biology
    Annual review of genomics and human genetics
  • 2000
The development of statistical tests of natural selection at the DNA level in population samples has been ongoing for the past 13 years. The current state of the field is reviewed, and the available

Natural selection on protein-coding genes in the human genome

Comparisons of DNA polymorphism within species to divergence between species enables the discovery of molecular adaptation in evolutionarily constrained genes as well as the differentiation of weak from strong purifying selection, and finds strong evidence that natural selection has shaped the recent molecular evolution of the authors' species.

Rapid evolution of male reproductive genes in the descent of man

It is shown that rapid evolution of male reproductive genes is observable in primates and is quite notable in the lineages to human and chimpanzee, and that positive darwinian selection is often the driving force behind this rapid evolution.