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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“7,000 YBP) and further east into Asia (approx.”
BackgroundInfluential
High diversity due to balancing selection in the promoter region of the Medea gene in Arabidopsis lyrata.
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“Events in the past history of a population, such as bottlenecks, can cause haplotype structure (linkage disequilibrium between variants in different alleles) [29, 30], Figure 1.”
Background
Identification and characterization of novel polymorphic LINE-1 insertions through comparison of two human genome sequence assemblies
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Ethiopia: between Sub-Saharan Africa and western Eurasia.
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BackgroundResultSelf-citation
Natural Selection Has Differentiated the Progesterone Receptor among Human Populations
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Method
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Evidence for the unique function of DHA during the evolution of the modern hominid brain
Crawford, M., Bloom, M. J., Broadhurst, C. L., Schmidt, W., Cunnane, S. C., Galli, C., Gehbremeskel, K., Linseisen, F. M., Lloyd-Smith, J., & Parkington, J. E. (2004) · Oléagineux Corps gras Lipides · doi:10.1051/ocl.2004.0030 · Cited by 17
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Estimation of Multilocus Linkage Disequilibria in Diploid Populations With Dominant Markers
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“migrated out of Africa and subsequently populated the rest of the globe (3,4).”
BackgroundSelf-citation
Accounting for Linkage Disequilibrium in Association Analysis of Diverse Populations
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“Compared to European- or Asian-ancestry populations, African-ancestry populations have experienced more generations for LD to decay [Tishkoff et al., 1996].”
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Genetic Nature/Culture
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Haplotype tagging efficiency in worldwide populations in CTLA4 gene
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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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