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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Mitochondrial DNA and human evolution
Cann, R. L., Stoneking, M., & Wilson, A. C. (1987) · Nature · doi:10.1038/325031a0 · Cited by 3,100

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Sazzini, M. (2009) · AMS Dottorato Institutional Doctoral Theses Repository (University of Bologna) · doi:10.6092/unibo/amsdottorato/1692
“(2001), but in contrast with the trend observed for several other genes (Tishkoff et al. 1996; Calafell et al. 1998; Tishkoff et al. 1998; Guthery et al. 2007) and for Seattle SNPs re-sequenced genes, for which African-Americans showed greater nucleotide diversity in comparison to European-Americans in 82.”
Result
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“Alternatively, the bottleneck could be associated with the emergence of modern humans from Africa, in which case the pattern of linkage disequilibrium it left would be shared among many different human populations [8].”
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“For example, in a survey of haplotypes consisting of Alu deletion and short tandem repeat polymorphisms in the CD4 gene in different populations, the results strongly support a common and recent African origin for all non-African communities [8].”
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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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