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Characterisation of a human serine hydroxymethyltransferase pseudogene and its localisation to 1p32.3–33

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Abstract

The conversion of serine and tetrahydrofolate to glycine and 5,10 methylene tetrahydrofolate by serine hydroxymethyltransferase (SHMT, EC 2.1.2.1) is the major route for the provision of one-carbon units for biosynthetic reactions. SHMT cDNAs have been cloned from both rabbit and man, and a human mitochondrial SHMT gene sequence has recently been reported. We have isolated phage clones containing human genomic sequences homologous to cytosolic SHMT and have found these to contain a processed pseudogene (SHMT-psl) with a 90% identity to cloned SHMT cDNAs. SHMT ps1 contains 2335 nt that are homologous to SHMT but it has an additional leader sequence of 203 nt of unknown origin. The complete SHMT-ps.1 sequence of 2538 nt is bounded by two 16 nt direct repeats that are characteristic of retroelement insertion sites. Two phage clones containing SHMT-ps1 have been mapped by fluorescence in situ hybridisation to 1p32.3–33. ln addition, an SHMT cDNA clone hybridized to the same region and to 17p11.2–12. The latter is consistent with a previous localisation of the gene for cytosolic SHMT.

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Byrne, P.C., Shipley, J.M., Chave, K.J. et al. Characterisation of a human serine hydroxymethyltransferase pseudogene and its localisation to 1p32.3–33. Hum Genet 97, 340–344 (1996). https://doi.org/10.1007/BF02185768

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  • DOI: https://doi.org/10.1007/BF02185768

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