Expression of Leukaemia associated transcription factor Af9/Mllt3 in the cerebral cortex of the mouse

Gene Expr Patterns. 2009 Feb;9(2):83-93. doi: 10.1016/j.gep.2008.10.004. Epub 2008 Oct 25.


Mutations of leukaemia associated AF9/MLLT3 are implicated in neurodevelopmental diseases such as epilepsia and ataxia. This study shows for the first time, that murine Af9 is transcribed in various CNS structures including the subventricular zone (SVZ) of the cerebral cortex, hippocampus, cerebellar cortex, septum and various thalamic structures, the choroid plexus, and the midbrain/hindbrain boundary. Expression of Af9 in the SVZ overlaps with Svet1, Cux2, and partially with Tbr2, confining its activity to the neurogenic compartment of the SVZ. In contrast to Svet1 and Cux2 expression, Af9 transcription is not limited to upper layer neurons but is found in the entire cortical plate. As part of an extensive network of interacting proteins involved in epigenetic DNA modification, we could show overlapping expression of Af9 with Af4/Aff1 and Fmr2/Aff2, two genes that are also related to neurodevelopmental diseases, as well as with the highly homologous Enl.

MeSH terms

  • Animals
  • Cerebral Cortex / embryology
  • Cerebral Cortex / metabolism*
  • DNA-Binding Proteins / genetics
  • DNA-Binding Proteins / metabolism
  • Embryo, Mammalian
  • Female
  • Gene Expression Regulation, Developmental
  • Homeodomain Proteins / genetics
  • Homeodomain Proteins / metabolism
  • Malformations of Cortical Development / genetics
  • Mice
  • Mice, Mutant Strains
  • Nuclear Proteins / genetics*
  • Nuclear Proteins / metabolism
  • Pregnancy
  • Protein Binding
  • Transcription Factors / genetics
  • Transcription Factors / metabolism


  • Aff1 protein, mouse
  • Aff2 protein, mouse
  • Cux2 protein, mouse
  • DNA-Binding Proteins
  • Homeodomain Proteins
  • Mllt1 protein, mouse
  • Mllt3 protein, mouse
  • Nuclear Proteins
  • Transcription Factors