Effects of ascertainment bias on recovering human demographic history

Human Biology

Volumn 81, Issue 5-6, 2009, Pages 735-751

  Eller, Elise ^a  

^a UNIVERSITY OF UTAH   (United States)

Author keywords

Relative population weights; Restriction fragment length polymorphisms (RFLPs); Restriction site polymorphisms (RSPs); Single nucleotide polymorphisms (SNPs)

Indexed keywords

GENETIC MARKER; MICROSATELLITE DNA;

CEPHALOMETRY; COMPUTER SIMULATION; DEMOGRAPHY; GENETIC MARKER; GENETICS; HISTORY; HUMAN; POPULATION GENETICS; PRINCIPAL COMPONENT ANALYSIS; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SINGLE NUCLEOTIDE POLYMORPHISM; STATISTICAL BIAS; STATISTICS;

BIAS (EPIDEMIOLOGY); CEPHALOMETRY; COMPUTER SIMULATION; DEMOGRAPHY; GENETIC MARKERS; GENETICS, POPULATION; HISTORY, 21ST CENTURY; HUMANS; MICROSATELLITE REPEATS; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; POLYMORPHISM, SINGLE NUCLEOTIDE; PRINCIPAL COMPONENT ANALYSIS; STATISTICS AS TOPIC;

EID: 77952899134     PISSN: 00187143     EISSN: 15346617     Source Type: Journal    
DOI: 10.3378/027.081.0618     Document Type: Article

References (28)

1. Beaumont, M. A. 1999. Detecting population expansion and decline using microsatellites. Genetics 153:2013-2029.
2. Cavalli- Sforza, L. L., P. Menozzi, and A. Piazza. 1994. The History and Geography of Human Genes. Princeton, NJ: Princeton University Press.
3. Chakravarti, A. 1998. It's raining SNPs, hallelujah? Nature Genetics 19:216-217.
4. Di Rienzo, A., P. Donnelly, C. Toomajian et al. 1998. Heterogeneity of microsatellite mutations within and between loci, and implications for human demographic histories. Genetics 148:1269-1284.
5. Eller, E. 1999. Population substructure and isolation by distance in three continental regions. Am. J. Phys. Anthropol. 108:147-159.
6. Harpending, H. C., and E. Eller. 1999. Human diversity and its history. In The Biology of Biodiversity, M. Kato, ed. Tokyo, Japan: Springer- Verlag, 301-314.
7. Harpending, H. C., and T. Jenkins. 1973. Genetic distances among southern African populations. In Methods and Theories of Anthropological Genetics, M. H. Crawford and P. L. Workman, eds. Albuquerque, NM: University of New Mexico Press, 177-199.
8. Harpending, H. C., and R. H. Ward. 1982. Chemical systematics and human populations. In Biochemical Aspects of Evolutionary Biology, M. H. Nitecki, ed. Chicago, IL: University of Chicago Press, 213-256.
9. Hudson, R. R. 1990. Gene genealogies and the coalescent process. In Oxford Surveys in Evolutionary Biology, Vol.7, D. Futuyma and J. Antonovics, eds. Oxford, UK: Oxford University Press, 1-44.
10. Jorde, L. B., M. J. Bamshad, W. S. Watkins et al. 1995. Origins and affinities of modern humans: A comparison of mitochondrial and nuclear genetic data. Am. J. Hum. Genet. 57:523-538.
11. Kimmel, M., R. Chakraborty, J. P. King et al. 1998. Signatures of population expansion in microsatellite repeat data. Genetics 148:1921-1930.
12. Livshits, G., and M. Nei. 1990. Relationships between intrapopulational and interpopulational genetic diversity in man. Ann. Hum. Biol. 17:501-513.
13. Mantel, N. A. 1967. The detection of disease clustering and a generalized regression approach. Cancer Res. 27:209-218.
14. Mountain, J. L., and L. L. Cavalli- Sforza. 1994. Inference of human evolution through cladistic analysis of nuclear DNA restriction polymorphisms. Proc. Natl. Acad. Sci. USA 91:6515-6519.
15. Nei, M. 1987. Molecular Evolutionary Genetics. New York: Columbia University Press.
16. Reich, D. E., and D. B. Goldstein. 1998. Genetic evidence for a Paleolithic human population expansion in Africa. Proc. Natl. Acad. Sci. USA 95:8119-8123.
17. Relethford, J. H. 1995. Genetics and modern human origins. Evol. Anthropol. 4:53-63.
18. Relethford, J. H., and H. C. Harpending. 1994. Craniometric variation, genetic theory, and modern human origins. Am. J. Phys. Anthropol. 95:249-270.
19. Relethford, J. H., and L. B. Jorde. 1999. Genetic evidence for larger African population size during recent human evolution. Am. J. Phys. Anthropol. 108:251-260.
20. Rogers, A. R., and H. C. Harpending. 1992. Population growth makes waves in the distribution of pairwise genetic differences. Mol. Biol. Evol. 9:552-569.
21. Rogers, A. R., and L. B. Jorde. 1996. Ascertainment bias in estimates of average heterozygosity. Am. J. Hum. Genet. 58:1033-1041.
22. Santos, E. J. M., J. T. Epplen, and C. Epplen. 1997. Extensive gene flow in human populations as revealed by protein and microsatellite DNA markers. Hum. Hered. 47:165-172.
23. Sherry, S. T., H. C. Harpending, M. A. Batzer et al. 1997. Alu evolution in human populations: using the coalescent to estimate effective population size. Genetics 147:1977-1982.
24. Smouse, P. E., and J. C. Long. 1992. Matrix correlation analysis in anthropology and genetics. Yrbk. Phys. Anthropol. 35:187-213.
25. Sokal, R. R., and F. J. Rohlf. 1995. Biometry, 3rd ed. New York: W. H. Freeman.
26. Stoneking, M., J. J. Fontius, S. L. Clifford et al. 1998. Alu insertion polymorphisms and human evolution: Evidence for a larger population size in Africa. Genome Res. 7:1061-1071.
27. Templeton, A. R. 1997. Testing the out of Africa replacement hypothesis with mitochondrial DNA data. In Conceptual Issues in Modern Human Origins Research, G. A. Clark and C. M. Willemet, eds. New York: Aldine de Gruyter, 327-360.
28. Zhivotovsky, L. A., L. Bennett, A. M. Bowcock et al. 2000. Human population expansion and microsatellite variation. Mol. Biol. Evol. 17:757-767.