Estimating the pattern of nucleotide substitution (original) (raw)

Abstract

Knowledge of the pattern of nucleotide substitution is important both to our understanding of molecular sequence evolution and to reliable estimation of phylogenetic relationships. The method of parsimony analysis, which has been used to estimate substitution patterns in real sequences, has serious drawbacks and leads to results difficult to interpret. In this paper a model-based maximum likelihood approach is proposed for estimating substitution patterns in real sequences. Nucleotide substitution is assumed to follow a homogeneous Markov process, and the general reversible process model (REV) and the unrestricted model without the reversibility assumption are used. These models are also applied to examine the adequacy of the model of Hasegawa et al. (J. Mol. Evol. 1985;22:160–174) (HKY85). Two data sets are analyzed. For the Ψν-globin pseudogenes of six primate species, the REV model fits the data much better than HKY85, while, for a segment of mtDNA sequences from nine primates, REV cannot provide a significantly better fit than HKY85 when rate variation over sites is taken into account in the models. It is concluded that the use of the REV model in phylogenetic analysis can be recommended, especially for large data sets or for sequences with extreme substitution patterns, while HKY85 may be expected to provide a good approximation. The use of the unrestricted model does not appear to be worthwhile.

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1. Ziheng Yang
   Present address: Biometrics Section, Department of Zoology, The Natural History Museum, Cromwell Road, SW7 5BD, London, UK

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1. Department of Zoology, University of Cambridge, Downing Street, CB2 3EJ, Cambridge, UK
   Ziheng Yang

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1. Ziheng Yang
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Yang, Z. Estimating the pattern of nucleotide substitution.J Mol Evol 39, 105–111 (1994). https://doi.org/10.1007/BF00178256

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• Received: 14 June 1993
• Accepted: 11 November 1993
• Issue Date: July 1994
• DOI: https://doi.org/10.1007/BF00178256

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