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.
Similar content being viewed by others
References
Blakely RL (1955) The interconversion of serine and glycine: participation of pyridoxal phosphate. Biochem J 61: 315–323
Byrne PC (1992) Molecular analysis of mammalian serine hydroxymethyltransferase. Ph.D Thesis, University of Surrey
Byrne PC, Sanders PG, Snell K (1992) Nucleotide sequence and expression of a cDNA encoding rabbit liver cytosolic serine hydroxymethyltransferase. Biochem J 862: 117–123
Cai X, Szabo P, Ali G, Tanzi RE, Blass JP (1994) Pseudogene of dihydrolipoyl succinyltransferase (E2k) found by PCR amplification and direct sequencing of rodent-human cell hybrid DNAs. Somat Cell Mol Genet 20: 339–343
Chasin LA, Feldman A, Konstam M, Urlaub G (1974) Reversion of a Chinese hamster auxotrophic mutant. Proc Nail Acad Sci USA 71: 718–722
Fujioka M (1969) Purification and properties of serine hydroxymethyltransferase from soluble and mitochondrial fractions of rabbit liver. Biochem Biophys Acta 185: 338–349
Garrow TA, Brenner AA, Whitehead VM, Chen X-N, Duncan RG, Korenberg JR, Shane B (1993) Cloning of human cDNAs encoding mitochondrial and cytosolic serine hydroxymethyltransferases and chromosomal localization. J Biol Chem 268: 11910–11916
Johnson KJ, Sander T, Hicks AA, Marle A van, Janz D, Mullan MJ, Riley BP, Darlison MG (1992) Confirmation of the localization of the human GABAA receptor alpha 1-subunit gene (GABRA1) to distal 5q by linkage analysis. Genomics 14: 745–748
Kolble K, Reid KB (1993) The genomics of soluble proteins with collagenous domains: Clq, MBL, SP-A, SP-D, conglutinin, and CL-43. Behring Inst Mitt 81–86
Nakano Y, Fujioka M, Wada H (1968) Studies on serine hydroxymethylase isoenzymes from rat liver. Biochem Biophys Acta 159: 19–26
Ochman H, Wilson AC (1987) Evolution in bacteria: evidence for a universal substitution rate in cellular genomes. J Mol Evol 26: 74–86
Perler F, Efstradiadis A, Lomedico P, Gilbert W, Kolodner R, Dodgson J (1980) The evolution of genes: the chicken preproinsulin gene. Cell 20: 555–566
Rigby PWJ, Dieckmen M, Rhodes C, Berg P (1977) Labelling deoxyribonucleic acid to high specific activity in vitro by nick translation with DNA polymerase I. J Mol Biol 113: 237–251
Sanger F, Nicklen S, Coulson AR (1977) DNA sequencing with chain-terminating inhibitors. Proc Natl Acad Sci USA 74: 5463–5467
Sambrook J, Fritsch EF, Maniatis T (1989) Molecular cloning: a laboratory manual, 2nd edn. Cold Spring Harbor Laboratory, Cold Spring Harbor, NY
Shipley JM, Jones TA, Patel K, Kiely FM, De Stavola BL, Sheer D (1993) Ordering of probes surrounding the Ewing's sarcoma breakpoint on chromosome 22 using fluorescent in situ hybridization to interphase nuclei. Cytogenet Cell Genet 64: 233–239
Snell K (1989) Serine metabolic imbalance in hepatocellular carcinoma. In: Bannasch P, Keppler D, Weber G (eds) Liver cell carcinoma. Kluwer Academic, Dordrecht, pp 375–387
Snell K, Natsumeda Y, Weber G (1987) The modulation of serine metabolism in hepatoma 3924A during different phases of cellular proliferation in nature. Biochem J 245: 609–612
Snell K, Natsumeda Y, Eble JN, Glover JL, Weber G (1988) Enzymatic imbalance in serine metabolism in human colon carcinoma and rat sarcoma. Br J Cancer 57: 87–90
Stover PJ, Shane B, Stover DM, Chen LH (1995) EMBL/Genbank/DDBJ accession number U23143
Thorndike J, Pelliniemi T, Beck WS (1979) Serine hydroxymethyltransferase and serine incorporation in leucocytes. Cancer Res 39: 3435–3440
Usha R, Savithri HS, Rao NA (1994) The primary structure of sheep liver cytosolic serine hydroxymethyltransferase and an analysis of the evolutionary relationships among serine hydroxymethyltransferases. Biochim Biophys Acta 1204: 75–83
Xu L (1994) EMBL/Genbank/DDBJ accession number L23928
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
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
Received:
Revised:
Issue Date:
DOI: https://doi.org/10.1007/BF02185768