Biochemical and structural characterization of the glycosylase domain of MBD4 bound to thymine and 5-hydroxymethyuracil-containing DNA

Nucleic Acids Res. 2012 Oct;40(19):9917-26. doi: 10.1093/nar/gks714. Epub 2012 Jul 30.

Abstract

Active DNA demethylation in mammals occurs via hydroxylation of 5-methylcytosine to 5-hydroxymethylcytosine (5hmC) by the ten-eleven translocation family of proteins (TETs). 5hmC residues in DNA can be further oxidized by TETs to 5-carboxylcytosines and/or deaminated by the Activation Induced Deaminase/Apolipoprotein B mRNA-editing enzyme complex family proteins to 5-hydromethyluracil (5hmU). Excision and replacement of these intermediates is initiated by DNA glycosylases such as thymine-DNA glycosylase (TDG), methyl-binding domain protein 4 (MBD4) and single-strand specific monofunctional uracil-DNA glycosylase 1 in the base excision repair pathway. Here, we report detailed biochemical and structural characterization of human MBD4 which contains mismatch-specific TDG activity. Full-length as well as catalytic domain (residues 426-580) of human MBD4 (MBD4(cat)) can remove 5hmU when opposite to G with good efficiency. Here, we also report six crystal structures of human MBD4(cat): an unliganded form and five binary complexes with duplex DNA containing a T•G, 5hmU•G or AP•G (apurinic/apyrimidinic) mismatch at the target base pair. These structures reveal that MBD4(cat) uses a base flipping mechanism to specifically recognize thymine and 5hmU. The recognition mechanism of flipped-out 5hmU bases in MBD4(cat) active site supports the potential role of MBD4, together with TDG, in maintenance of genome stability and active DNA demethylation in mammals.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • 5-Methylcytosine / analogs & derivatives
  • Bacteria / enzymology
  • Catalytic Domain
  • Cytosine / analogs & derivatives
  • Cytosine / metabolism
  • DNA / chemistry*
  • DNA / metabolism
  • Endodeoxyribonucleases / chemistry*
  • Endodeoxyribonucleases / metabolism
  • Humans
  • Models, Molecular
  • Pentoxyl / analogs & derivatives*
  • Pentoxyl / chemistry
  • Pentoxyl / metabolism
  • Protein Structure, Tertiary
  • Substrate Specificity
  • Thymine / chemistry*
  • Thymine / metabolism
  • Thymine DNA Glycosylase / chemistry*
  • Thymine DNA Glycosylase / metabolism

Substances

  • 5-hydroxymethylcytosine
  • 5-hydroxymethyluracil
  • 5-Methylcytosine
  • Pentoxyl
  • Cytosine
  • DNA
  • Endodeoxyribonucleases
  • MBD4 protein, human
  • Thymine DNA Glycosylase
  • Thymine

Associated data

  • PDB/4E9E
  • PDB/4E9F
  • PDB/4E9G
  • PDB/4E9H
  • PDB/4EA4
  • PDB/4EA5