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Publication : The transcription factor Bhlhb4 is required for rod bipolar cell maturation.

First Author  Bramblett DE Year  2004
Journal  Neuron Volume  43
Issue  6 Pages  779-93
PubMed ID  15363390 Mgi Jnum  J:92623
Mgi Id  MGI:3054140 Doi  10.1016/j.neuron.2004.08.032
Citation  Bramblett DE, et al. (2004) The transcription factor bhlhb4 is required for rod bipolar cell maturation. Neuron 43(6):779-93
abstractText  Retinal bipolar cells are essential to the transmission of light information. Although bipolar cell dysfunction can result in blindness, little is known about the factors required for bipolar cell development and functional maturation. The basic helix-loop-helix (bHLH) transcription factor Bhlhb4 was found to be expressed in rod bipolar cells (RB). Electroretinograms (ERGs) in the adult Bhlhb4 knockout (Bhlhb4(-/-)) showed that the loss of Bhlhb4 resulted in disrupted rod signaling and profound retinal dysfunction resembling human congenital stationary night blindness (CSNB), characterized by the loss of the scotopic ERG b-wave. A depletion of inner nuclear layer (INL) cells in the adult Bhlhb4 knockout has been ascribed to the abolishment of the RB cell population during postnatal development. Other retinal cell populations including photoreceptors were unaltered. The timing of RB cell depletion in the Bhlhb4(-/-) mouse suggests that Bhlhb4 is essential for RB cell maturation.
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