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The classical human phosphoglucomutase (PGM1) isozyme polymorphism is generated by intragenic recombination

R E March1, W Putt, M Hollyoake

  • 1Medical Research Council Human Biochemical Genetics Unit, Galton Laboratory, University College London, United Kingdom.

Proceedings of the National Academy of Sciences of the United States of America
|November 15, 1993
PubMed
Summary

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Two specific mutations in the phosphoglucomutase 1 (PGM1) gene explain the common PGM1 protein variations. These DNA changes directly correlate with the identified PGM1 isozymes, clarifying the genetic basis of this polymorphism.

Area of Science:

  • Human genetics
  • Molecular biology
  • Biochemistry

Background:

  • The human phosphoglucomutase 1 (PGM1) gene exhibits a well-documented protein polymorphism.
  • Classical PGM1 typing identified two common allelozymes (PGM1 1 and PGM1 2) and four subtypes (1+, 1-, 2+, 2-) based on electrophoretic mobility and isoelectric focusing.

Purpose of the Study:

  • To elucidate the molecular basis of the PGM1 protein polymorphism by sequencing the entire coding region of the PGM1 gene.
  • To identify the specific DNA mutations responsible for the observed PGM1 isozyme variations in individuals with known protein phenotypes.

Main Methods:

  • DNA sequencing of the complete coding region of the human PGM1 gene.
  • Analysis of DNA sequences from individuals with established PGM1 protein phenotypes (1+, 1-, 2+, 2-).

Related Experiment Videos

  • Correlation of identified DNA mutations with specific PGM1 protein allelozymes and subtypes.

    • Main Results:

    • Two single nucleotide polymorphisms (SNPs), both C to T transitions at positions 723 and 1320, were identified within the PGM1 gene.
    • The nt 723 mutation (Arg220Cys) is completely associated with the PGM1 1/2 allelozyme polymorphism.
    • The nt 1320 mutation (Tyr419His) is completely associated with the PGM1 +/- subtype polymorphism.

    Conclusions:

    • The identified DNA mutations at nt 723 and 1320 are solely responsible for the classical PGM1 protein polymorphism.
    • These two point mutations explain the generation of the four common PGM1 alleles, with evidence suggesting intragenic recombination for one allele.
    • The predicted amino acid substitutions align with the observed charge differences in the PGM1 isozymes.