RAG2 PHD finger couples histone H3 lysine 4 trimethylation with V(D)J recombination

Nature. 2007 Dec 13;450(7172):1106-10. doi: 10.1038/nature06431. Epub 2007 Nov 21.

Abstract

Nuclear processes such as transcription, DNA replication and recombination are dynamically regulated by chromatin structure. Eukaryotic transcription is known to be regulated by chromatin-associated proteins containing conserved protein domains that specifically recognize distinct covalent post-translational modifications on histones. However, it has been unclear whether similar mechanisms are involved in mammalian DNA recombination. Here we show that RAG2--an essential component of the RAG1/2 V(D)J recombinase, which mediates antigen-receptor gene assembly--contains a plant homeodomain (PHD) finger that specifically recognizes histone H3 trimethylated at lysine 4 (H3K4me3). The high-resolution crystal structure of the mouse RAG2 PHD finger bound to H3K4me3 reveals the molecular basis of H3K4me3-recognition by RAG2. Mutations that abrogate RAG2's recognition of H3K4me3 severely impair V(D)J recombination in vivo. Reducing the level of H3K4me3 similarly leads to a decrease in V(D)J recombination in vivo. Notably, a conserved tryptophan residue (W453) that constitutes a key structural component of the K4me3-binding surface and is essential for RAG2's recognition of H3K4me3 is mutated in patients with immunodeficiency syndromes. Together, our results identify a new function for histone methylation in mammalian DNA recombination. Furthermore, our results provide the first evidence indicating that disrupting the read-out of histone modifications can cause an inherited human disease.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Motifs
  • Animals
  • Binding Sites
  • DNA-Binding Proteins / chemistry*
  • DNA-Binding Proteins / metabolism*
  • Gene Rearrangement, B-Lymphocyte*
  • Histones / chemistry
  • Histones / metabolism*
  • Homeodomain Proteins / chemistry
  • Homeodomain Proteins / metabolism
  • Humans
  • Immunologic Deficiency Syndromes / genetics
  • Lysine / chemistry
  • Lysine / metabolism*
  • Methylation
  • Mice
  • Models, Molecular
  • Protein Binding
  • Recombination, Genetic*
  • Structure-Activity Relationship
  • Substrate Specificity
  • Tryptophan / genetics
  • Tryptophan / metabolism
  • VDJ Recombinases / chemistry
  • VDJ Recombinases / metabolism*

Substances

  • DNA-Binding Proteins
  • Histones
  • Homeodomain Proteins
  • Rag2 protein, mouse
  • Tryptophan
  • VDJ Recombinases
  • Lysine