A high observed substitution rate in the human mitochondrial DNA control region

  title={A high observed substitution rate in the human mitochondrial DNA control region},
  author={T. Parsons and D. Muniec and K. Sullivan and N. Woodyatt and R. Alliston-Greiner and M. Wilson and D. Berry and K. A. Holland and V. Weedn and P. Gill and M. Holland},
  journal={Nature Genetics},
  • T. Parsons, D. Muniec, +8 authors M. Holland
  • Published 1997
  • Biology, Medicine
  • Nature Genetics
  • The rate and pattern of sequence substitutions in the mitochondrial DNA (mtDNA) control region (CR) is of central importance to studies of human evolution and to forensic identity testing. Here, we report a direct measurement of the intergenerational substitution rate in the human CR. We compared DNA sequences of two CR hypervariable segments from close maternal relatives, from 134 independent mtDNA lineages spanning 327 generational events. Ten substitutions were observed, resulting in an… CONTINUE READING

    Topics from this paper.

    Multiple and ancient origins of the domestic dog.
    • 912
    • PDF
    The incomplete natural history of mitochondria
    • 1,765
    • PDF
    Detection of ultra-rare mutations by next-generation sequencing
    • 590
    • PDF
    The mutation rate in the human mtDNA control region.
    • 225
    • Highly Influenced
    • PDF
    Pattern of nucleotide substitution and rate heterogeneity in the hypervariable regions I and II of human mtDNA.
    • 273
    • Highly Influenced
    • PDF
    Universal heteroplasmy of human mitochondrial DNA
    • 254
    • PDF


    Publications referenced by this paper.
    Sequence and organization of the human mitochondrial genome
    • 7,993
    Mitochondrial DNA and human evolution
    • 2,074
    • PDF