title: Natural and artificial mutants of the human 2,3-bisphosphoglycerate as a tool for the evaluation of structure-function relationships.
abstract: 2,3-bisphosphoglycerate mutase is a multifunctional enzyme which catalyses in red blood cells the synthesis and the degradation of 2,3-bisphosphoglycerate, the allosteric effector of hemoglobin. In order to study the structure-function relationships in BPGM, an expression vector was constructed which yielded an active protein, but with a modified electrophoretic mobility, due to a non-blocked N-terminal residue. Using site directed mutagenesis, mutants were produced with shortened chains. Results indicated the importance of residues 252-256 for the function. A natural deficient mutant with the substitution 89 Arg----Cys was described. Artificial mutant with the same substitution reproduced the same defect, as well as mutants Arg----Gly and Arg----Ser, indicating the key role of Arg 89 in the enzymatic mechanism.
authors.affiliation: Unité INSERM-U91, Hôpital Henri Mondor, Créteil, France.
authors.forename: M C
authors.initials: MC
authors.lastname: Garel
authors.forename: V
authors.initials: V
authors.lastname: Lemarchandel
authors.forename: M O
authors.initials: MO
authors.lastname: Prehu
authors.forename: M C
authors.initials: MC
authors.lastname: Calvin
authors.forename: N
authors.initials: N
authors.lastname: Arous
authors.forename: R
authors.initials: R
authors.lastname: Rosa
authors.forename: J
authors.initials: J
authors.lastname: Rosa
authors.forename: M
authors.initials: M
authors.lastname: Cohen-Solal
mesh_terms: D019794:2,3-Diphosphoglycerate; D000595:Amino Acid Sequence; D001483:Base Sequence; D001731:Bisphosphoglycerate Mutase / Q000096:biosynthesis / Q000235:genetics*; D003001:Cloning, Molecular; D004247:DNA / Q000235:genetics; D004163:Diphosphoglyceric Acids / Q000378:metabolism*; D004926:Escherichia coli / Q000235:genetics; D015870:Gene Expression; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D010770:Phosphotransferases / Q000235:genetics*; D010957:Plasmids; D013329:Structure-Activity Relationship
chemical_list: D004163:Diphosphoglyceric Acids; D019794:2,3-Diphosphoglycerate; D004247:DNA; D010770:Phosphotransferases; D001731:Bisphosphoglycerate Mutase