Characterization of Bcor expression in mouse development

Joseph A. Wamstad, Vivian J Bardwell

Research output: Contribution to journalArticlepeer-review

25 Scopus citations


Mutation of the gene encoding the transcriptional corepressor BCOR results in the X-linked disorder Oculofaciocardiodental syndrome (OFCD or MCOPS2). Female OFCD patients suffer from severe ocular, craniofacial, cardiac, and digital developmental defects and males do not survive through gestation. BCOR can mediate transcriptional repression by the oncoprotein BCL6 and has the ability to reduce transcriptional activation by AF9, a known mixed-lineage leukemia (MLL) fusion partner. The essential role of BCOR in development and its ability to modulate activity of known oncogenic proteins prompted us to determine the expression profile of Bcor during mouse development. Identification of independently transcribed exons in the 5′ untranslated region of Bcor suggests that three independent promoters control the expression of Bcor in mice. Although Bcor is widely expressed in adult mouse tissues, analysis of known spliced isoforms in the coding region of Bcor reveals differential isoform usage. Whole mount in situ hybridization of mouse embryos shows that Bcor is strongly expressed in the extraembryonic tissue during gastrulation and expression significantly increases throughout the embryo after embryonic turning. During organogenesis and fetal stages Bcor is differentially expressed in multiple tissue lineages, with a notable presence in the developing nervous system. Strikingly, we observed that Bcor expression in the eye, brain, neural tube, and branchial arches correlates with tissues affected in OFCD patients.

Original languageEnglish (US)
Pages (from-to)550-557
Number of pages8
JournalGene Expression Patterns
Issue number5
StatePublished - Apr 2007

Bibliographical note

Funding Information:
This work was supported by NCI (R01 CA071540) and NIH (T32DE07288). We thank members of the Bardwell laboratory and Anna Petryk for helpful comments.


  • AF9
  • BCL6
  • Bcor
  • Extraembryonic
  • Lenz
  • MCOPS2
  • OFCD
  • Oculofaciocardiodental syndrome
  • PcG


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