Key Points
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Africa harbours most of the human genetic diversity in the world.
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Modern humans are descended from African ancestors who migrated out of Africa in the past 44,000–200,000 years.
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Complex demographic histories in Africa have shaped the patterns of genetic variation and linkage disequilibrium in modern Africans and their recent descendants, leaving a genetic imprint on their genomes that will allow the determination of their histories.
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Several complex diseases, such as hypertension, obesity and diabetes, are common in populations of African descent, and dissecting the genetic risk factors of these diseases in sub-Saharan Africa will probably lead to a better understanding of the genetics of these diseases in many human populations.
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Smaller haplotype blocks in many African populations will allow fine mapping of disease susceptibility alleles.
Abstract
Africa is one of the most ethnically and genetically diverse regions of the world. It is thought to be the ancestral homeland of all modern humans, and is the homeland of millions of people of the recent African diaspora. Because of the central role of African populations in human history, characterizing their patterns of genetic diversity and linkage disequilibrium is crucial for reconstructing human evolution and for understanding the genetic basis of complex diseases.
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Acknowledgements
The authors thank the reviewers C. Freund and E. Clayton for useful comments and/or discussion on earlier versions of this paper, and K. Powell and H. Mortensen for assistance with figure 1. S.A.T. was supported by a Burroughs Welcome Fund Career Award, a David and Lucile Packard Career Award and a US National Science Foundation grant. S.M.W. was supported by the US National Institutes of Health.
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Glossary
- MODERN HUMANS
-
Homo sapiens sapiens. Anatomically modern humans who appear in the fossil record ∼150,000–200,000 years ago and who are descended from Homo erectus.
- HAPLOTYPE
-
A set of genetic markers that is present on one chromosome.
- LINKAGE DISEQUILIBRIUM
-
(LD). The condition in which the frequency of a particular haplotype for two loci is significantly greater than that expected from the product of the observed allelic frequencies at each locus.
- HOMO ERECTUS
-
Species of the genus Homo from which modern humans descend, which originated ∼1.8 million years ago.
- EFFECTIVE POPULATION SIZE
-
(Ne). The theoretical number of breeding individuals, the genetic variation of which can be explained solely by mutation and genetic drift. Ne is related to, but never exceeds, actual population size (N), is most strongly influenced by bottleneck events and reflects the size of a population at its minimum.
- GENETIC DRIFT
-
The random fluctuation that occurs in allele frequencies as genes are transmitted from one generation to the next. This is because allele frequencies in any sample of gametes that perpetuate the population might not represent those of the adults in the previous generation.
- GENE CONVERSION
-
A specific type of recombination, which results in non-reciprocal genetic exchange, in which the sequence of one DNA strand is used to alter the sequence of the other.
- BALANCING SELECTION
-
The maintenance of genetic polymorphism owing to selection.
- POPULATION SUBDIVISION
-
A population sample that is not genetically homogeneous but, rather, is composed of more than one subpopulation with low levels of gene flow.
- F ST
-
A measure of population subdivision that indicates the proportion of genetic diversity found between populations relative to the amount within populations.
- COALESCENCE
-
The convergence of alleles, in a modern population, back in time to a common ancestor.
- HERITABILITY
-
The fraction of the phenotypic variance due to genetic variance.
- QUANTITATIVE TRAIT LOCUS
-
(QTL). A genetic locus that is identified through the statistical analysis of complex traits (such as body weight). These traits are typically affected by more than one gene and by the environment.
- ANGIOTENSINOGEN
-
The precursor molecule that is cleaved by angiotensin-I-converting enzyme into angiotensin II.
- NA+/H+ EXCHANGER
-
The system through which extracellular sodium ions are traded for intracellular hydrogen ions to adjust or maintain cellular pH, as well as cell volume. This exchanger has been implicated in the development of essential hypertension.
- HUMAN LEUKOCYTE ANTIGEN
-
(HLA). Also known as major histocompatibility complex (MHC). A glycoprotein found on the surface of antigen-presenting cells that presents antigen for recognition by helper T cells.
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Tishkoff, S., Williams, S. Genetic analysis of African populations: human evolution and complex disease. Nat Rev Genet 3, 611–621 (2002). https://doi.org/10.1038/nrg865
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DOI: https://doi.org/10.1038/nrg865
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