Population bottlenecks as a potential major shaping force of human genome architecture

Adrian Gherman, Peter E. Chen, Tanya M. Teslovich, Pawel Stankiewicz, Marjorie Withers, Carl S. Kashuk, Aravinda Chakravarti, James R. Lupski, David J. Cutler*, Elias Nicholas Katsanis

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

48 Scopus citations


The modern synthetic view of human evolution proposes that the fixation of novel mutations is driven by the balance among selective advantage, selective disadvantage, and genetic drift. When considering the global architecture of the human genome, the same model can be applied to understanding the rapid acquisition and proliferation of exogenous DNA. To explore the evolutionary forces that might have morphed human genome architecture, we investigated the origin, composition, and functional potential of numts (nuclear mitochondrial pseudogenes), partial copies of the mitochondrial genome found abundantly in chromosomal DNA. Our data indicate that these elements are unlikely to be advantageous, since they possess no gross positional, transcriptional, or translational features that might indicate beneficial functionality subsequent to integration. Using sequence analysis and fossil dating, we also show a probable burst of integration of numts in the primate lineage that centers on the prosimian-anthropoid split, mimics closely the temporal distribution of Alu and processed pseudogene acquisition, and coincides with the major climatic change at the Paleocene-Eocene boundary. We therefore propose a model according to which the gross architecture and repeat distribution of the human genome can be largely accounted for by a population bottleneck early in the anthropoid lineage and subsequent effectively neutral fixation of repetitive DNA, rather than positive selection or unusual insertion pressures.

Original languageEnglish (US)
Pages (from-to)1223-1231
Number of pages9
JournalPLoS genetics
Issue number7
StatePublished - Jul 2007

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics
  • Ecology, Evolution, Behavior and Systematics
  • Molecular Biology
  • Cancer Research


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