Multiple single-nucleotide polymorphisms in the methylenetetrahydrofolate reductase and its truncated pseudogene of 23 inbred strains of mice |
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Authors: | Takeya Chiaki Esumi Mariko Shiroishi Toshihiko Hishida Ryohei Yamamoto Tatsuo |
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Affiliation: | Department of Pathology, Nihon University School of Medicine, Tokyo 173-8610, Japan. |
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Abstract: | Reduced 5,10-methylenetetrahydrofolate reductase (MTHFR) results in a number of human diseases. To find a model mouse sensitive to these diseases, we analyzed single-nucleotide polymorphisms (SNPs) of the mouse Mthfr using 23 phylogenetically distant strains of mouse. We found five SNPs: two nonsynonymous and three synonymous. The CAST/Ei strain has the nonsynonymous SNP L350V and five strains (NMRI, KJR, SWN2, MSM, and JF1) have the nonsynonymous SNP S22G. The MTHFR activity of CAST/Ei and MSM showed no significant difference in activity or thermostability compared with that of C57BL/6J. We also found a pseudogene segment of the mouse Mthfr that was not present in human and was more frequently variable than the functional gene. These results suggest a possibility that the truncated pseudogene may buffer variations of the mouse Mthfr functional gene, and the mouse has evolved fewer variations of the gene than human. |
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Keywords: | Methylenetetrahydrofolate reductase Single-nucleotide polymorphism Pseudogene Truncated gene Thermostability Mouse genetic strains |
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