Theoretical Analysis of Mutation Spectra
of Cytochrome P450

Yu. G. Matushkin, I. N. Morozova, and P. S. Morozov

Institute of Cytology and Genetics, Russian Academy of Sciences, Siberian Branch, Novosibirsk, 630090 Russia;
E-mail: mat@bionet.nsc.ru

Received July 2, 1998; in final form, November 11, 1998

Abstract—The specificity of the mutation process in different cytochrome P450 families and the species spec-
ificity of this process in the CYP2 family of rat, mouse, and human were demonstrated. In rat, CYP1 and CYP2
families have statistically different mutation spectra. Analysis of the evolutionary mutation patterns, as well as
of those observed in pseudogenes and in damaged CYP21 alleles found in patients with adrenal hyperplasia,
does not support the hypothesis that mutations in pseudogenes could be transferred to normal alleles of CYP21
genes by gene conversion.

Key words: cytochromes P450; phylogenetic analysis; mutation spectra; congenital adrenal hyperplasia

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