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Pattern of Nucleotide Substitution and Rate Heterogeneity in the Hypervariable Regions I and II of Human mtDNA
Abstract
This study provides a comprehensive survey of the complex pattern of nucleotide substitution in the control region of human mtDNA, which is of central importance to the studies of human evolution. A total of 1229 different hypervariable region I (HVRI) and 385 different hypervariable region II (HVRII) sequences were analyzed using a complex substitution model. Moreover, we suggest a new method to assign relative rates to each site in the sequence. Estimates are based on maximum-likelihood methods applied to randomly selected subsets of sequences. Our results indicate that the rate of substitution in HVRI is approximately twice as high as in HVRII and that this difference is mainly due to a higher frequency of pyrimidine transitions in HVRI. However, rate heterogeneity is more pronounced in HVRII.
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Cites
Mitochondrial DNA and human evolution
Cann, R. L., Stoneking, M., & Wilson, A. C. (1987) · Nature · doi:10.1038/325031a0 · Cited by 3,100
Quartet Puzzling: A Quartet Maximum-Likelihood Method for Reconstructing Tree Topologies
Strimmer, K., & von Haeseler, A. (1996) · Molecular Biology and Evolution · doi:10.1093/oxfordjournals.molbev.a025664 · Cited by 2,531
Statistical tests of models of DNA substitution
Goldman, N. (1993) · Journal of Molecular Evolution · doi:10.1007/bf00166252 · Cited by 736
Cited by
Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation
van Oven, M., & Kayser, M. (2009) · Human Mutation · doi:10.1002/humu.20921 · Cited by 1,810
The evolution of molecular markers — just a matter of fashion?
Schlötterer, C. (2004) · Nature Reviews Genetics · doi:10.1038/nrg1249 · Cited by 891
Mayrose, I. (2004) · Molecular Biology and Evolution · doi:10.1093/molbev/msh194 · Cited by 447
Immunology and Evolution of Infectious Disease
Frank, S. A. (2002) · Princeton University Press eBooks · doi:10.1515/9780691220161 · Cited by 393
Kennedy, S. R., Salk, J. J., Schmitt, M. W., & Loeb, L. A. (2013) · PLoS Genetics · doi:10.1371/journal.pgen.1003794 · Cited by 363
Metadata
- Authors
- Meyer, S., Weiss, G., & von Haeseler, A.
- Venue
- Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 1999-07-01
- Volume
- 152
- Issue
- 3
- Pages
- 1103-1110
- ISSN
- 0016-6731 (ISSN-L)
- 1943-2631
- OpenAlex
- W2124435032
- Cited by
- 276
- References
- 3
- FWCI
- 8.61
- Type
- journal article
- Language
- en
- Open access
- closed
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- Meyer, S., Weiss, G., & von Haeseler, A. (1999). Pattern of Nucleotide Substitution and Rate Heterogeneity in the Hypervariable Regions I and II of Human mtDNA. Genetics. https://doi.org/10.1093/genetics/152.3.1103
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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