| First Author | Takeya C | Year | 2003 |
| Journal | Biochem Biophys Res Commun | Volume | 312 |
| Issue | 2 | Pages | 480-6 |
| PubMed ID | 14637162 | Mgi Jnum | J:86746 |
| Mgi Id | MGI:2681399 | Doi | 10.1016/j.bbrc.2003.10.139 |
| Citation | Takeya C, et al. (2003) Multiple single-nucleotide polymorphisms in the methylenetetrahydrofolate reductase and its truncated pseudogene of 23 inbred strains of mice. Biochem Biophys Res Commun 312(2):480-6 |
| abstractText | 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. |
