The Pedigree Rate of Sequence Divergence in the Human Mitochondrial Genome: There Is a Difference Between Phylogenetic and Pedigree Rates

作者: Neil Howell , Christy Bogolin Smejkal , D.A. Mackey , P.F. Chinnery , D.M. Turnbull

DOI: 10.1086/368264

关键词: Mitochondrial DNAGermline mutationGenetic variationPedigree chartHuman mitochondrial geneticsDivergenceGeneticsPhylogenetic treeBiologyMutation (genetic algorithm)

摘要: … The second issue is that, if there is a difference, then it becomes important to provide possible … well as those from other studies, indicate that there is a difference in the two rates, and we …

参考文章(49)
V. A. Macaulay, J. R. Baker, K. E. Bendall, B. C. Sykes, Heteroplasmic point mutations in the human mtDNA control region. American Journal of Human Genetics. ,vol. 59, pp. 1276- 1287 ,(1996)
Kenneth H. Buetow, Rajesh V. Thakker, Steven Mumm, Michael P. Whyte, David Schlessinger, mtDNA analysis shows common ancestry in two kindreds with X-linked recessive hypoparathyroidism and reveals a heteroplasmic silent mutation. American Journal of Human Genetics. ,vol. 60, pp. 153- 159 ,(1997)
E Heyer, Mitochondrial and nuclear genetic contribution of female founders to a contemporary population in northeast Quebec. American Journal of Human Genetics. ,vol. 56, pp. 1450- 1455 ,(1995)
Elena Jazin, Himla Soodyall, Paula Jalonen, Eva Lindholm, Mark Stoneking, Ulf Gyllensten, Mitochondrial mutation rate revisited: hot spots and polymorphism. Nature Genetics. ,vol. 18, pp. 109- 110 ,(1998) , 10.1038/NG0298-109
Svante Pääbo, Mutational hot spots in the mitochondrial microcosm. American Journal of Human Genetics. ,vol. 59, pp. 493- 496 ,(1996)
Lois A. Tully, Thomas J. Parsons, Robert J. Steighner, Mitchell M. Holland, Michael A. Marino, Valerie L. Prenger, A Sensitive Denaturing Gradient-Gel Electrophoresis Assay Reveals a High Frequency of Heteroplasmy in Hypervariable Region 1 of the Human mtDNA Control Region American Journal of Human Genetics. ,vol. 67, pp. 432- 443 ,(2000) , 10.1086/302996
Richard M. Andrews, Iwona Kubacka, Patrick F. Chinnery, Robert N. Lightowlers, Douglass M. Turnbull, Neil Howell, Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA Nature Genetics. ,vol. 23, pp. 147- 147 ,(1999) , 10.1038/13779
David A. Mackey, David A. Mackey, Neil Howell, Iwona Kubacka, How rapidly does the human mitochondrial genome evolve American Journal of Human Genetics. ,vol. 59, pp. 501- 509 ,(1996)
Max Ingman, Henrik Kaessmann, Svante Pääbo, Ulf Gyllensten, Mitochondrial genome variation and the origin of modern humans Nature. ,vol. 408, pp. 708- 713 ,(2000) , 10.1038/35047064
I Kubacka, N Howell, D A McCullough, M Xu, Leber hereditary optic neuropathy: involvement of the mitochondrial ND1 gene and evidence for an intragenic suppressor mutation. American Journal of Human Genetics. ,vol. 48, pp. 935- 942 ,(1991)