Abstract
Two dinucleotide short tandem-repeat polymorphisms (STRPs) and a polymorphic Alu element spanning a 22-kb region of the PLAT locus on chromosome 8p12-q11.2 were typed in 1,287-1,420 individuals originating from 30 geographically diverse human populations, as well as in 29 great apes. These data were analyzed as haplotypes consisting of each of the dinucleotide repeats and the flanking Alu insertion/deletion polymorphism. The global pattern of STRP/Alu haplotype variation and linkage disequilibrium (LD) is informative for the reconstruction of human evolutionary history. Sub-Saharan African populations have high levels of haplotype diversity within and between populations, relative to non-Africans, and have highly divergent patterns of LD. Non-African populations have both a subset of the haplotype diversity present in Africa and a distinct pattern of LD. The pattern of haplotype variation and LD observed at the PLAT locus suggests a recent common ancestry of non-African populations, from a small population originating in eastern Africa. These data indicate that, throughout much of modern human history, sub-Saharan Africa has maintained both a large effective population size and a high level of population substructure. Additionally, Papua New Guinean and Micronesian populations have rare haplotypes observed otherwise only in African populations, suggesting ancient gene flow from Africa into Papua New Guinea, as well as gene flow between Melanesian and Micronesian populations.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 901-925 |
| Number of pages | 25 |
| Journal | American Journal of Human Genetics |
| Volume | 67 |
| Issue number | 4 |
| DOIs | |
| State | Published - 2000 |
| Externally published | Yes |
Bibliographical note
Funding Information:We thank Nuria Navarro-Coy for technical assistance. We thank Gabriella Spedini at the University of Rome “La Sapienza” for the Bamileke and Ewondo samples; Sylvana Santachiarra-Benerecetti for the Wolof samples; and Batsheva Bonné-Tamir for samples from the Ethiopian Jewish, Yemenite Jewish, and Druze populations. We also thank the many other individuals, particularly the members of the indigenous populations studied, who have contributed DNA samples. This project was funded by a National Science Foundation (NSF) Sloan postdoctoral fellowship, NSF grant BCS-9905396, and a Burroughs Wellcome Fund Career Award (all to S.A.T.); National Institutes of Health grant GM57672 (to K.K.K.); NSF grant SBR-9632509 (to J.R.K.); a grant from the Sloan Foundation (to K.K.K. and J.R.K.); funding from the South African Medical Research Council and the University of the Witwatersrand (to T.J.); NSF grant 9423118 (to M.S.); and National Science Council, Taiwan, ROC grant NSC 88-2314-B-106-081 (to R.-B. L.). S.A.T. would like to acknowledge the hospitality of the Jenkins Laboratory, the South African Institute of Medical Research, and the University of the Witwatersrand, who hosted her as a Visiting Research Scientist during June–September 1997, during which time the data on the southern-African populations were collected. We thank Jeffrey Long and an anonymous reviewer for comments on the manuscript.