An ancient protein-DNA interaction underlying metazoan sex determination

Nat Struct Mol Biol. 2015 Jun;22(6):442-51. doi: 10.1038/nsmb.3032. Epub 2015 May 25.

Abstract

DMRT transcription factors are deeply conserved regulators of metazoan sexual development. They share the DM DNA-binding domain, a unique intertwined double zinc-binding module followed by a C-terminal recognition helix, which binds a pseudopalindromic target DNA. Here we show that DMRT proteins use a unique binding interaction, inserting two adjacent antiparallel recognition helices into a widened DNA major groove to make base-specific contacts. Versatility in how specific base contacts are made allows human DMRT1 to use multiple DNA binding modes (tetramer, trimer and dimer). Chromatin immunoprecipitation with exonuclease treatment (ChIP-exo) indicates that multiple DNA binding modes also are used in vivo. We show that mutations affecting residues crucial for DNA recognition are associated with an intersex phenotype in flies and with male-to-female sex reversal in humans. Our results illuminate an ancient molecular interaction underlying much of metazoan sexual development.

Publication types

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

MeSH terms

  • Animals
  • Chromatin Immunoprecipitation
  • DNA / metabolism*
  • DNA Mutational Analysis
  • Diptera
  • Exodeoxyribonucleases
  • Gene Expression Profiling
  • Humans
  • Mice
  • Models, Molecular
  • Molecular Sequence Data
  • Protein Binding
  • Protein Conformation
  • Sequence Analysis, DNA
  • Sex
  • Transcription Factors / chemistry
  • Transcription Factors / genetics
  • Transcription Factors / metabolism*

Substances

  • DMRT1 protein
  • Transcription Factors
  • DNA
  • Exodeoxyribonucleases

Associated data

  • GEO/GSE64892
  • PDB/4YJ0