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Characterization of Bcor expression in mouse development.

Joseph A Wamstad1, Vivian J Bardwell

  • 1Molecular, Cellular, Developmental Biology and Genetics Graduate Program, University of Minnesota, 6-160 Jackson Hall, 321 Church St SE, Minneapolis, MN 55455, USA.

Gene Expression Patterns : GEP
|March 9, 2007
PubMed
Summary
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The BCL6 corepressor BCOR is crucial for development, and its mutations cause Oculofaciocardiodental syndrome (OFCD). This study maps Bcor expression during mouse development, revealing its presence in OFCD-affected tissues.

Area of Science:

  • Developmental biology
  • Molecular genetics
  • Human disease genetics

Background:

  • Mutations in the BCOR gene cause Oculofaciocardiodental syndrome (OFCD), a severe X-linked developmental disorder.
  • BCOR functions as a transcriptional corepressor, interacting with oncoproteins like BCL6 and modulating AF9 activity.

Purpose of the Study:

  • To investigate the expression pattern of Bcor during mouse embryonic development.
  • To correlate Bcor expression with tissues affected in OFCD.

Main Methods:

  • Whole mount in situ hybridization on mouse embryos.
  • Analysis of Bcor gene structure, including promoter identification and alternative splicing.

Main Results:

  • Bcor exhibits distinct expression patterns during mouse embryogenesis, with strong early expression in extraembryonic tissues and increasing ubiquitous expression post-gastrulation.

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  • Differential Bcor isoform usage was observed.
  • Expression in the developing eye, brain, neural tube, and branchial arches aligns with tissues impacted in OFCD patients.

    • Conclusions:

    • Bcor plays a significant role throughout mouse development.
    • The observed expression patterns support the link between Bcor function and the pathogenesis of OFCD.