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Mol Cell Biochem. 2003 Oct;252(1-2):391-5.

Characterization of a pseudogene for murine methylenetetrahydrofolate reductase.

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Department of Human Genetics, McGill University-Montreal Children's Hospital, Montreal, Quebec, Canada.


Methylenetetrahydrofolate reductase (MTHFR) reduces 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, the major carbon donor in the remethylation of homocysteine to methionine. Mild MTHFR deficiency, due to a common variant at nucleotide 677, has been reported to influence risk for several disorders including cardiovascular disease, neural tube defects, pregnancy complications and cancer. In recent work, we characterized the complete cDNA and gene sequences in the human and mouse genes, which had previously been mapped to chromosomes 1 and 4, respectively. During the course of this work, we observed that PCR primers in exons 1 and 2 of Mthfr generated amplicons of the expected size for the normal Mthfr transcript, using both reverse-transcribed RNA and genomic DNA as templates. These findings alluded to the existence of a pseudogene in the murine genome. Here, we report the characterization of this pseudogene. The absence of intron 1, the partial retention of intron 2, the location of this gene on chromosome 5, and the presence of sequences unrelated to Mthfr at the 5' and 3' ends of the 1259 bp fragment are features that are indicative of a partially-processed pseudogene, that we have designated Mthfr-ps. A Mthfr-ps transcript was not detectable by sensitive RT-PCR using assays designed to simultaneously detect the authentic Mthfr transcript. The structure of this paralogous gene and the identification of a repeat sequence at the 3' end of this pseudogene suggest that it arose by retrotransposition of a mis-spliced Mthfr transcript. Investigations of the Mthfr gene should take into account the presence of the non-functional Mthfr-ps to avoid misinterpretation of results.

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