Cited by 587Forensic and Genetic ResearchGenetic diversity and population structureGenetic Associations and Epidemiology

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Global Patterns of Linkage Disequilibrium at the CD4 Locus and Modern Human Origins

Tishkoff, S. A., Dietzsch, E., Speed, W., Pakstis, A. J., Kidd, J. R., Cheung, K., Bonné-Tamir, B., Santachiara-Benerecetti, A. S., Moral, P., Krings, M., Pääbo, S., Watson, E., Risch, N., Jenkins, T., Kidd, K. K.·1996·Science

DOI 10.1126/science.271.5254.1380

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Abstract

Haplotypes consisting of alleles at a short tandem repeat polymorphism (STRP) and an Alu deletion polymorphism at the CD4 locus on chromosome 12 were analyzed in more than 1600 individuals sampled from 42 geographically dispersed populations (13 African, 2 Middle Eastern, 7 European, 9 Asian, 3 Pacific, and 8 Amerindian). Sub-Saharan African populations had more haplotypes and exhibited more variability in frequencies of haplotypes than the Northeast African or non-African populations. The Alu deletion was nearly always associated with a single STRP allele in non-African and Northeast African populations but was associated with a wide range of STRP alleles in the sub-Saharan African populations. This global pattern of haplotype variation and linkage disequilibrium suggests a common and recent African origin for all non-African human populations.

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“This is expected in the non-African samples on the basis of our other studies of multiple populations (Tishkoff et al. 1996; Kidd et al. 1998, 2000), since the five sites polymorphic outside of Africa span a small region that is slightly larger than 30 kb.”
BackgroundSelf-citation
Microsatellite diversity and the demographic history of modern humans.
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“Because of the extreme heterogeneity in recombination rates along human chromosomes, linkage disequilibrium around selected genes has been found to extend for hundreds of thousands of bases (e.g., Tishkoff et al. 1996; Sabeti et al. 2002; Saunders, Hammer, and Nachman 2002).”
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Length Distributions of Identity by Descent Reveal Fine-Scale Demographic History
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“1991; Hammer 1995), and small autosomal regions with no significant recombination (Wainscoat et al. 1986; Tishkoff et al. 1996; Bergstrom et al. 1998; Jaruzelska et al. 1999), but, recently, large regions containing autosomal genes usually associated with diseases have been analyzed in a variety of populations (Clark…”
BackgroundSelf-citation
Minisatellite diversity supports a recent African origin for modern humans
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“Thus, these data are consistent with the “out of Africa” hypothesis of modern human origins, which purports that all human populations descend from an anatomically modern Homo sapiens population that migrated out of Africa »100,000 years ago ( Stringer and Andrews 1988 ).”
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Microhaplotypes in forensic genetics
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The biology of the colonizing ape
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BackgroundInfluential
Different Genetic Components in the Ethiopian Population, Identified by mtDNA and Y-Chromosome Polymorphisms
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Evidence for balancing selection from nucleotide sequence analyses of human G6PD.
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BackgroundResultSelf-citation
Evidence that the adaptive allele of the brain size gene microcephalin introgressed into Homo sapiens from an archaic Homo lineage
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“The bottleneck in recent history of non-African populations is often considered as an explanation for the high levels of LD observed in the ED population (57,58).”
Background

Authors: Tishkoff, S. A., Dietzsch, E., Speed, W., Pakstis, A. J., Kidd, J. R., Cheung, K., Bonné-Tamir, B., Santachiara-Benerecetti, A. S., Moral, P., Krings, M., Pääbo, S., Watson, E., Risch, N., Jenkins, T., & Kidd, K. K.
Affiliations: Yale University (US)
University of the Witwatersrand (ZA)
B. Bonné-Tamir is in the Department of Human Genetics, Sackler Faculty of Medicine, Tel Aviv University, 69978 Ramat Aviv, Israel.
A. S. Santachiara-Benerecetti is in the Buzzati Traverso Department of Genetics and Microbiology, University of Pavia, Via Abbiategrasso 207, 27100 Pavia, Italy.
Universitat de Barcelona (ES)
Ludwig-Maximilians-Universität München (DE)
Massey University (NZ)
Stanford Medicine (US)
S. A. Tishkoff, W. Speed, A. J. Pakstis, J. R. Kidd, K. Cheung, and K. K. Kidd are in the Department of Genetics, Yale University School of Medicine, 333 Cedar Street, New Haven, CT 06520-8005, USA.
ORCID: Tishkoff, S. A.
Pakstis, A. J.
Moral, P.
Pääbo, S.
Risch, N.
Jenkins, T.
Venue: Science
Publisher: American Association for the Advancement of Science (AAAS)
Published: 1996-03-08
Volume: 271
Issue: 5254
Pages: 1380-1387
ISSN: 0036-8075 (ISSN-L)
1095-9203
DOI: 10.1126/science.271.5254.1380
OpenAlex: W1971604012
Cited by: 587
References: 64
Citations by year: 2026: 2 · 2025: 5 · 2024: 4 · 2023: 3 · 2022: 2 · 2021: 9 · 2020: 5 · 2019: 1 · 2018: 8 · 2017: 6 · 2016: 5 · 2015: 9 · 2014: 12 · 2013: 10 · 2012: 14
FWCI: 27.44
Type: journal article
Language: en
Open access: closed
Locations: Science (publishedVersion)
PubMed (publishedVersion)
MPG.PuRe (Max Planck Society) (submittedVersion)
Funders: National Institutes of Health (5r01hg000348-09)
National Institute on Alcohol Abuse and Alcoholism (R01AA009379, AA09379)
National Institute of Mental Health (MH39 239)
National Human Genome Research Institute (HG00348)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Forensic and Genetic Research
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic diversity and population structure
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
Keywords: linkage disequilibrium, chromosome 12, short tandem repeat polymorphism, haplotype variation, human origins, African origin of modern humans, sub-Saharan African populations, population genetics
MeSH terms: Africa, Alleles, Animals, Base Sequence, Chromosomes, Human, Pair 12, Gene Frequency, Haplotypes, Humans, Molecular Sequence Data, Polymorphism, Genetic, Primates, Repetitive Sequences, Nucleic Acid, Genetic Variation, Hominidae, CD4 Antigens, Linkage Disequilibrium, Sequence Deletion, Evolution, Molecular

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Global Patterns of Linkage Disequilibrium at the CD4 Locus and Modern Human Origins

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