Prdm9 controls activation of mammalian recombination hotspots

Science. 2010 Feb 12;327(5967):835. doi: 10.1126/science.1181495. Epub 2009 Dec 31.


Mammalian meiotic recombination, which preferentially occurs at specialized sites called hotspots, ensures the orderly segregation of meiotic chromosomes and creates genetic variation among offspring. A locus on mouse chromosome 17, which controls activation of recombination at multiple distant hotspots, has been mapped within a 181-kilobase interval, three of whose genes can be eliminated as candidates. The remaining gene, Prdm9, codes for a zinc finger containing histone H3K4 trimethylase that is expressed in early meiosis and whose deficiency results in sterility in both sexes. Mus musculus exhibits five alleles of Prdm9; human populations exhibit two predominant alleles and multiple minor alleles. The identification of Prdm9 as a protein regulating mammalian recombination hotspots initiates molecular studies of this important biological control system.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Alleles
  • Amino Acid Sequence
  • Animals
  • Chromosome Mapping
  • Female
  • Histone-Lysine N-Methyltransferase / chemistry
  • Histone-Lysine N-Methyltransferase / genetics*
  • Histone-Lysine N-Methyltransferase / metabolism
  • Humans
  • Male
  • Meiosis / genetics*
  • Mice
  • Mice, Inbred C57BL
  • Molecular Sequence Data
  • Recombination, Genetic*
  • Sequence Analysis, DNA
  • Testis / metabolism
  • Zinc Fingers


  • Histone-Lysine N-Methyltransferase
  • PRDM9 protein, human
  • prdm9 protein, mouse

Associated data

  • GENBANK/GU183909
  • GENBANK/GU183910
  • GENBANK/GU183911
  • GENBANK/GU183912
  • GENBANK/GU183913
  • GENBANK/GU183914
  • GENBANK/GU183915
  • GENBANK/GU183916
  • GENBANK/GU183917
  • GENBANK/GU183918
  • GENBANK/GU183919