MBE Advance Access published online on February 7, 2003
Molecular Biology and Evolution, doi:10.1093/molbev/msg019
Molecular Biology and Evolution © Society for Molecular Biology and Evolution 2003; all rights reserved
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1 Max-Planck-Institut für evolutionäre Anthropologie, Leipzig, Germany
* To whom correspondence should be addressed. E-mail: haeseler{at}cs.uni-duesseldorf.de.
A maximum likelihood framework for estimating site specific substitution rates is presented that does not require any prior assumptions about the rate distribution. We show that the analysis of pairs of positions is sufficient to estimate site specific rates, when the branching pattern of the underlying tree is known. In the abscence of a known topology, we introduce an iterative procedure to estimate the branching pattern, the branch lengths, and site specific substitution rates simultaneously. Simulations show that the evolutionary rate of fast evolving sites can be reliably inferred and that the accuracy of rate estimates depends mainly on the number of sequences in the dataset. Thus, large sets of aligned sequences are necessary for reliable site specific rate estimates. The method is applied to the complete mitochondrial DNA sequence of 53 humans providing a complete picture of the site specific substitution rates in human mitochondrial DNA. Key Words:
sequence evolution, site-specific substitution rates, maximum likelihood, tree reconstruction, human mitochondrial DNA
© 2003 Society for Molecular Biology and Evolution
Original Articles
Identifying site specific substitution rates
2 Heinrich-Heine Universität Düsseldorf, Germany; Forschungszentrum Jülich, Germany
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