Global patterns of human DNA sequence variation in a 10-kb region on chromosome 1

Ning Yu, Z. Zhao, Y. X. Fu, N. Sambuughin, M. Ramsay, T. Jenkins, E. Leskinen, L. Patthy, L. B. Jorde, T. Kuromori, Wen Hsiung Li

Research output: Contribution to journalArticle

99 Citations (Scopus)

Abstract

Human DNA variation is currently a subject of intense research because of its importance for studying human origins, evolution, and demographic history and for association studies of complex diseases. A ∼10-kb region on chromosome 1, which contains only four small exons (each -9 per nucleotide per year. An average estimate of ∼12,600 for the long-term effective population size was obtained using various methods; the estimate was not far from the commonly used value of 10,000. Fu and Li's tests rejected the assumption of an equilibrium neutral Wright-Fisher population, largely owing to the high proportion of low-frequency variants. The age of the most recent common ancestor of the sequences in our sample was estimated to be more than 1 Myr. Allowing for some unrealistic assumptions in the model, this estimate would still suggest an age of more than 500,000 years, providing further evidence for a genetic history of humans much more ancient than the emergence of modern humans. The fact that many unique variants exist in Europe and Asia also suggests a fairly long genetic history outside of Africa and argues against a complete replacement of all indigenous populations in Europe and Asia by a small Africa stock. Moreover, the ancient genetic history of humans indicates no severe bottleneck during the evolution of humans in the last half million years; otherwise, much of the ancient genetic history would have been lost during a severe bottleneck. We suggest that both the "Out of Africa" and the multiregional models are too simple to explain the evolution of modern humans.

Original languageEnglish
Pages (from-to)214-222
Number of pages9
JournalMolecular Biology and Evolution
Volume18
Issue number2
Publication statusPublished - 2001

Fingerprint

Chromosomes, Human, Pair 1
DNA sequences
Chromosomes
chromosome
chromosomes
Ancient History
nucleotide sequences
DNA
history
Medical Genetics
Exons
Nucleotides
demographic history
indigenous population
effective population size
common ancestry
Population Density
Population Groups
replacement
History

Keywords

  • DNA variation
  • Human evolution
  • Nucleotide diversity
  • Unique variants

ASJC Scopus subject areas

  • Genetics
  • Biochemistry
  • Genetics(clinical)
  • Biochemistry, Genetics and Molecular Biology(all)
  • Ecology, Evolution, Behavior and Systematics
  • Agricultural and Biological Sciences (miscellaneous)
  • Molecular Biology

Cite this

Yu, N., Zhao, Z., Fu, Y. X., Sambuughin, N., Ramsay, M., Jenkins, T., ... Li, W. H. (2001). Global patterns of human DNA sequence variation in a 10-kb region on chromosome 1. Molecular Biology and Evolution, 18(2), 214-222.

Global patterns of human DNA sequence variation in a 10-kb region on chromosome 1. / Yu, Ning; Zhao, Z.; Fu, Y. X.; Sambuughin, N.; Ramsay, M.; Jenkins, T.; Leskinen, E.; Patthy, L.; Jorde, L. B.; Kuromori, T.; Li, Wen Hsiung.

In: Molecular Biology and Evolution, Vol. 18, No. 2, 2001, p. 214-222.

Research output: Contribution to journalArticle

Yu, N, Zhao, Z, Fu, YX, Sambuughin, N, Ramsay, M, Jenkins, T, Leskinen, E, Patthy, L, Jorde, LB, Kuromori, T & Li, WH 2001, 'Global patterns of human DNA sequence variation in a 10-kb region on chromosome 1', Molecular Biology and Evolution, vol. 18, no. 2, pp. 214-222.
Yu N, Zhao Z, Fu YX, Sambuughin N, Ramsay M, Jenkins T et al. Global patterns of human DNA sequence variation in a 10-kb region on chromosome 1. Molecular Biology and Evolution. 2001;18(2):214-222.
Yu, Ning ; Zhao, Z. ; Fu, Y. X. ; Sambuughin, N. ; Ramsay, M. ; Jenkins, T. ; Leskinen, E. ; Patthy, L. ; Jorde, L. B. ; Kuromori, T. ; Li, Wen Hsiung. / Global patterns of human DNA sequence variation in a 10-kb region on chromosome 1. In: Molecular Biology and Evolution. 2001 ; Vol. 18, No. 2. pp. 214-222.
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