Molecular basis of human 46X,Y sex reversal revealed from the three-dimensional solution structure of the human SRY-DNA complex

Cell. 1995 Jun 2;81(5):705-14. doi: 10.1016/0092-8674(95)90532-4.

Abstract

The solution structure of the specific complex between the high mobility group (HMG) domain of SRY (hSRY-HMG), the protein encoded by the human testis-determining gene, and its DNA target site in the promoter of the müllerian inhibitory substance gene has been determined by multidimensional NMR spectroscopy. hSRY-HMG has a twisted L shape that presents a concave surface (made up of three helices and the N- and C-terminal strands) to the DNA for sequence-specific recognition. Binding of hSRY-HMG to its specific target site occurs exclusively in the minor groove and induces a large conformational change in the DNA. The DNA in the complex has an overall 70 degrees-80 degrees bend and is helically unwound relative to classical A- and B-DNA. The structure of the complex reveals the origin of sequence-specific binding within the HMG-1/HMG-2 family and provides a framework for understanding the effects of point mutations that cause 46X,Y sex reversal at the atomic level.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Anti-Mullerian Hormone
  • Binding Sites
  • DNA-Binding Proteins / chemistry
  • DNA-Binding Proteins / genetics*
  • Disorders of Sex Development*
  • Female
  • Glycoproteins*
  • Growth Inhibitors / genetics*
  • Humans
  • Karyotyping
  • Magnetic Resonance Spectroscopy
  • Male
  • Models, Molecular
  • Nuclear Proteins*
  • Oligonucleotides / chemistry
  • Point Mutation*
  • Protein Binding
  • Sex Chromosome Aberrations / genetics*
  • Sex Differentiation
  • Sex-Determining Region Y Protein
  • Testicular Hormones / genetics*
  • Transcription Factors*
  • Transcription, Genetic
  • X Chromosome
  • Y Chromosome

Substances

  • DNA-Binding Proteins
  • Glycoproteins
  • Growth Inhibitors
  • Nuclear Proteins
  • Oligonucleotides
  • SRY protein, human
  • Sex-Determining Region Y Protein
  • Testicular Hormones
  • Transcription Factors
  • Anti-Mullerian Hormone