The human ASCL2 gene escaping genomic imprinting and its expression pattern

J Assist Reprod Genet. 2002 May;19(5):240-4. doi: 10.1023/a:1015362903486.


The mouse achaete-scute homolog-2 gene (Ascl2 or Mash2) encodes a transcription factor playing a role in the development of the trophoblast. The Ascl2 is an imprinted gene with maternal expression and assigned to an imprinting gene cluster region (ICR) at a distal region of mouse chromosome 7. We previously isolated a phage clone carrying the human homolog, ASCL2, and mapped it to human chromosome 11p15.5, a human ICR. In the present study, we demonstrate the expression patterns of the human ASCL2 in the fetus at a stage between first and second trimesters and in the placental tissues. In addition, it has been shown that the human ASCL2 gene escapes genomic imprinting.

MeSH terms

  • Basic Helix-Loop-Helix Transcription Factors
  • Blotting, Northern
  • DNA / chemistry
  • DNA / genetics
  • DNA-Binding Proteins / genetics*
  • DNA-Binding Proteins / metabolism
  • Embryonic and Fetal Development / genetics*
  • Embryonic and Fetal Development / physiology
  • Female
  • Gene Expression Regulation, Developmental / genetics*
  • Gene Expression Regulation, Developmental / physiology
  • Genomic Imprinting / genetics*
  • Genomic Imprinting / physiology
  • Humans
  • In Situ Hybridization
  • Placenta / metabolism
  • Polymorphism, Restriction Fragment Length
  • Pregnancy
  • Pregnancy Trimester, First
  • Pregnancy Trimester, Second
  • Random Amplified Polymorphic DNA Technique
  • Transcription Factors*


  • ASCL2 protein, human
  • Ascl2 protein, mouse
  • Basic Helix-Loop-Helix Transcription Factors
  • DNA-Binding Proteins
  • Transcription Factors
  • DNA