The L561A substitution in the nascent base-pair binding pocket of RB69 DNA polymerase reduces base discrimination

Hong Zhang1, Chanu Rhee, Anna Bebenek

  • 1Department of Molecular Biophysics and Biochemistry, Yale University, 333 Cedar Street, New Haven, Connecticut 06520, USA.

Biochemistry
|February 16, 2006
PubMed

Insights

RB69 DNA polymerase variants show reduced base selectivity, increasing mutation rates. The L561A variant exhibits a dominant-lethal phenotype in vivo due to error catastrophe when lacking exonuclease activity.

Area of Science:

  • Molecular Biology
  • Biochemistry
  • Genetics

Background:

  • DNA polymerases are crucial for DNA replication and repair, ensuring fidelity through base selection.
  • Mutations in DNA polymerases can lead to genomic instability and disease.
  • RB69 DNA polymerase (RB69 pol) is a model enzyme for studying polymerase fidelity.

Purpose of the Study:

  • To quantify the loss of base selectivity in RB69 pol variants with mutations in the nascent base-pair binding pocket.
  • To investigate the in vivo consequences of altered DNA polymerase fidelity, specifically the L561A variant.

Main Methods:

  • Transient-state kinetic assays using rapid chemical quench to measure dNMP incorporation.
  • Determination of kinetic parameters (k(pol) and K(D)) for correct and incorrect dNMP incorporation.
  • In vivo mutation frequency analysis using T4 phage infection of Escherichia coli.

Main Results:

  • The RB69 pol L561A variant showed significantly increased incorporation efficiency for mispaired bases compared to the wild-type enzyme.
  • The L561A variant exhibited a weak mutator phenotype when exonuclease-proficient.
  • An exonuclease-deficient L561A variant caused a dominant-lethal phenotype in T4 phage infections, suggesting error catastrophe.

Conclusions:

  • Single-site mutations in the nascent base-pair binding pocket of RB69 pol can significantly reduce base selectivity.
  • The loss of fidelity in RB69 pol L561A contributes to increased mutation rates.
  • The combination of reduced polymerase fidelity and lack of exonuclease activity leads to error catastrophe and lethality.

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