PMID: 7514726Jun 1, 1994Paper

How precisely can data from transgenic mouse mutation-detection systems be extrapolated to humans?: lesions from the human factor IX gene

Mutation Research
S S Sommer, R P Ketterling

Abstract

Transgenic mutation-detection systems have been pioneered in mice, but the approach is applicable to any species in which transgenic animals can be generated. The observed mutations seen in mutation-detection systems are influenced by the underlying pattern of mutation, i.e., the mutational pattern that occurs in wild-type organisms in endogenous segments of DNA that are not under selective pressure. Unfortunately, the biology of most genes and assays markedly skew the underlying pattern of mutation. Herein, we raise multiple issues that must be addressed in order to estimate the underlying pattern of spontaneous mutation from transgenic mouse mutation-detection systems. If these issues can be addressed, the underlying pattern of spontaneous mutation can then be deduced for multiple cell types and for transgenes integrated into different parts of the genome. Even though transgenic methodology cannot be applied directly to humans, it is likely that comparable data on the underlying pattern of spontaneous mutation will be available in humans. Such data are currently available for germline mutations in the factor IX gene. These data are reviewed because of their relevance to two of the multiple issues that must be addressed in tra...Continue Reading

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Citations

Oct 1, 1995·Mutation Research·X B ZhangJ A Heddle
Sep 28, 1998·Mutation Research·G J JenkinsJ M Parry
Dec 6, 2000·Mutation Research·K KvaløyH E Krokan
Dec 12, 1996·Mutation Research·V L BuettnerS S Sommer
Jun 16, 2001·Carcinogenesis·H Nilsen, H E Krokan
Jan 1, 1996·Environmental and Molecular Mutagenesis·H NishinoS S Sommer
Jan 1, 1996·Human Molecular Genetics·S S Sommer, R P Ketterling

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