Human Demography

Cavalli-Sforza, L., Menozzi, P., Piazza, A. 1993 Demic Expansions and Human Evolution. Science 259:639-645

NY Times review, May 2000, provides a recent summary of work on human demography inferred from genetic data.

Ayala FJ, Escalante A, O'Huigin C, Klein J. 1994 Molecular genetics of speciation and human origins. Proc Natl Acad Sci U S A. 91(15):6787-94.

Casalotti, R., Simoni, L., Belledi, M. and G. Barbujani 1999 Y-chromosome polymorphisms and the origins of the European gene pool. Proc. R. Soc. Lond. B 266:1959-1965.

Donnelly, P, Tavaré, S. 1995 Coalescents and genealogical structure under neutrality. Annual Review of Genetics 29: 401-21

Abstract: The fundamental ideas behind genealogical or coalescent methods for the interpretation and understanding of a wide range of population genetic data are reviewed. Genealogy in neutral genetic models, for which the effects of demography can be separated from those of mutation, receives much attention. The coalescent for panmictic populations of fixed size and its extensions to incorporate various assumptions about variation in population size and nonrandom mating caused by geographic population subdivision are described. The effects of such genealogical structure on patterns and correlations in genetic information are addressed. Two applications of the genealogical approach are presented.

Excoffier L, Schneider S. 1999 Why hunter-gatherer populations do not show signs of pleistocene demographic expansions. Proc Natl Acad Sci U S A. 96(19):10597-602.

Harding RM, Fullerton SM, Griffiths RC, Bond J, Cox MJ, Schneider JA, Moulin DS, Clegg JB 1997 Archaic African and Asian lineages in the genetic ancestry of modern
humans. Am J Hum Genet. 60(4):772-89.

Harpending, H.C. 1994 Signature of ancient population growth in a low-resolution mitochondrial DNA mismatch distribution. Human Biology 66:591-600.

Abstract: The use of low-resolution mitochondrial DNA (mtDNA) mismatch distributions as a measure of ancient population growth was assessed. DNA sequence diversity is a good indication of population expansions in the past and so provides an insight into prehistoric demography. mtDNA sequences were analyzed, and the differences between pairs of nucleic acids were tabulated to give the low-resolution mismatch distributions. The results indicate that low-resolution typings offer similar patterns of population expansion to high-resolution typings. Population subdivision has almost no effect on raggedness and does not create false smooth distributions in stationary populations. This study provides further demographic evidence against the multiregional hypothesis of a wide-ranging transformation of Homo erectus into modern H. sapiens.

Hawks J, Hunley K, Lee SH, Wolpoff M. 2000 Population bottlenecks and Pleistocene human evolution. Mol Biol Evol. 17:2-22.

Lahr MM, Foley RA 1998 Towards a theory of modern human origins: geography, demography, and diversity in recent human evolution. Am J Phys Anthropol. Suppl 27:137-76.

Mountain JL, Cavalli-Sforza LL 1994 Inference of human evolution through cladistic analysis of nuclear DNA restriction polymorphisms. Proc Natl Acad Sci U S A. 91(14):6515-9.

O'Connell, James F. 1999 Genetics, archaeology, and Holocene hunter-gatherers. commentary. Proceedings of the National Academy of Sciences of the United States of America v. 96: 10562-3.

Abstract: The use of genetics and archaeology in the analysis of human demography is discussed. Excoffier and Schneider's analysis in this issue of the diversity of mDNA in modern human populations largely agreed with results from previous work on early Upper Pleistocene populations. The results of the analysis help move away from the "African Eve versus multiregional origins" argument toward a broader set of questions. In order to fully realize the potential of the techniques used in the analysis, geneticists need to collaborate with their colleagues in the historical sciences, in particular anthropology.

Reich DE, Goldstein DB. 1998 Genetic evidence for a Paleolithic human population expansion in Africa. Proc Natl Acad Sci U S A. 95:8119-23.

Relethford JH, Jorde LB. 1999 Genetic evidence for larger African population size during recent human evolution. Am J Phys Anthropol. 108(3):251-60.

Stoneking M, Fontius JJ, Clifford SL, Soodyall H, Arcot SS, Saha N, Jenkins T, Tahir MA, Deininger PL, Batzer MA. 1997 Alu insertion polymorphisms and human evolution: evidence for a larger population size in Africa. Genome Res. 7:1061-71.

Stringer, CB 1992 Reconstructing recent human evolution. Philos Trans R Soc Lond B Biol Sci. 337:217-24.

Takahata N, Satta Y. 1997 Evolution of the primate lineage leading to modern humans: phylogenetic and demographic inferences from DNA sequences. Proc Natl Acad Sci U S A. 94:4811-5.

Tavaré, S., Balding, D.J., Griffiths, R. C. 1997 Inferring coalescence times from DNA sequence data. Genetics 145: 505-18.

Abstract: The paper is concerned with methods for the estimation of the coalescence time (time since the most recent common ancestor) of a sample of intraspecies DNA sequences. The methods take advantage of prior knowledge of population demography, in addition to the molecular data. While some theoretical results are presented, a central focus is on computational methods. These methods are easy to implement, and, since explicit formulae tend to be either unavailable or unilluminating, they are also more useful and more informative in most applications. Extensions are presented that allow for the effects of uncertainty in our knowledge of population size and mutation rates, for variability in population sizes, for regions of different mutation rate, and for inference concerning the coalescence time of the entire population. The methods are illustrated using recent data from the human Y chromosome.

Wakeley J, Hey J. 1997 Estimating ancestral population parameters. Genetics. 145:847-55.

Wood, J.W. 1987 The genetic demography of the Gainj of Papua New Guinea: determinants of effective population size. American Naturalist 129:165-87.

Zietkiewicz E, Yotova V, Jarnik M, Korab-Laskowska M, Kidd KK, Modiano D, Scozzari R, Stoneking M, Tishkoff S, Batzer M, Labuda D. 1997 Nuclear DNA diversity in worldwide distributed human populations. Gene 205:161-71.

Zietkiewicz E, Yotova V, Jarnik M, Korab-Laskowska M, Kidd KK, Modiano D, Scozzari R, Stoneking M, Tishkoff S, Batzer M, Labuda D. 1998 Genetic structure of the ancestral population of modern humans. J Mol Evol. 47:146-55.