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Polydactyly in mice lacking HDAC9/HDRP.

Brad E Morrison1, Santosh R D'Mello

  • 1Dept. of Molecular and Cell Biology, University of Texas at Dallas, 2601 N. Floyd Road, Richardson, TX 75080, USA.

Experimental Biology and Medicine (Maywood, N.J.)
|May 16, 2008
PubMed
Summary
This summary is machine-generated.

Histone deacetylase 9 (HDAC9) and its variant HDRP normally inhibit sonic hedgehog (Shh) signaling. Their absence causes polydactyly in mice due to Shh pathway hyper-activation.

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Area of Science:

  • Developmental Biology
  • Molecular Biology
  • Genetics

Background:

  • Polydactyly, characterized by extra digits, can arise from developmental pathway dysregulation.
  • Sonic hedgehog (Shh) signaling is crucial for limb development and its overactivity is linked to polydactyly.
  • Histone deacetylase 9 (HDAC9) and its truncated variant, HDRP, are implicated in developmental processes.

Purpose of the Study:

  • To investigate the role of HDAC9/HDRP in regulating the Shh signaling pathway.
  • To determine if HDRP acts as a negative regulator of Shh signaling.
  • To understand the molecular basis of polydactyly in HDAC9/HDRP knockout mice.

Main Methods:

  • Analysis of polydactyly in HDAC9/HDRP knockout mice.
  • Quantitative assessment of Gli1 expression in mouse feet.
  • In vitro studies using cell lines (NIH 3T3, HT22) and primary glial cells to examine Shh pathway activity.
  • Treatment with Shh agonist purmorphamine to modulate pathway activity.

Main Results:

  • HDAC9/HDRP knockout mice exhibit post-axial polydactyly with incomplete penetrance.
  • Gli1 expression, a Shh pathway mediator, is significantly elevated in the feet of knockout mice.
  • HDRP expression inhibits purmorphamine-induced Gli1 upregulation and cell proliferation in cell lines and glial cells.
  • HDRP's nuclear localization suggests its role upstream of Gli3 activation in the Shh cascade.

Conclusions:

  • HDRP functions as a negative regulator of the Shh signaling pathway.
  • Loss of HDRP leads to Shh pathway hyper-activation, resulting in polydactyly.
  • HDAC9/HDRP are critical for normal Shh pathway modulation during embryonic development.