Journal of Molecular Evolution

, Volume 32, Issue 1, pp 37–42 | Cite as

Time of the deepest root for polymorphism in human mitochondrial DNA

  • Masami Hasegawa
  • Satoshi Horai


A molecular clock analysis was carried out on the nucleotide sequences of parts of the major noncoding region of mitochondrial DNA (mtDNA) from the major geographic populations of humans. Dates of branchings in the mtDNA tree among humans were estimated with an improved maximum likelihood method. Two species of chimpanzees were used as an outgroup, and the mtDNA clock was calibrated by assuming that the chimpanzee/human split occurred 4 million years ago, following our earlier works. A model of homogeneous evolution among sites does not fit well with the data even within hypervariable segments, and hence an additional parameter that represents a proportion of variable sites was introduced. Taking account of this heterogeneity among sites, the date for the deepest root of the mtDNA tree among humans was estimated to be 280,000±50,000 years old (±1 SE), although there remains uncertainty about the constancy of the evolutionary rate among lineages. The evolutionary rate of the most rapidly evolving sites in mtDNA was estimated to be more than 100 times greater than that of a nuclear pseudogene.

Key words

Nucleotide sequences Major noncoding region Evolutionary rates Molecular clock Rate heterogeneity among sites Effective proportion of variable sites Maximum likelihood 


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Copyright information

© Springer-Verlag New York Inc. 1991

Authors and Affiliations

  • Masami Hasegawa
    • 1
  • Satoshi Horai
    • 2
  1. 1.The Institute of Statistical MathematicsTokyoJapan
  2. 2.Department of Human GeneticsNational Institute of GeneticsMishima, ShizuokaJapan

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