The transcription factor Bhlhb4 is required for rod bipolar cell maturation

Debra E. Bramblett; Mark E. Pennesi; Samuel M. Wu; Ming Jer Tsai

doi:10.1016/j.neuron.2004.08.032

The transcription factor Bhlhb4 is required for rod bipolar cell maturation

Debra E. Bramblett, Mark E. Pennesi, Samuel M. Wu, Ming Jer Tsai

Research output: Contribution to journal › Article › peer-review

86 Scopus citations

Abstract

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.

Original language	English (US)
Pages (from-to)	779-793
Number of pages	15
Journal	Neuron
Volume	43
Issue number	6
DOIs	https://doi.org/10.1016/j.neuron.2004.08.032
State	Published - Sep 16 2004
Externally published	Yes

ASJC Scopus subject areas

General Neuroscience

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10.1016/j.neuron.2004.08.032

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title = "The transcription factor Bhlhb4 is required for rod bipolar cell maturation",

abstract = "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.",

author = "Bramblett, {Debra E.} and Pennesi, {Mark E.} and Wu, {Samuel M.} and Tsai, {Ming Jer}",

note = "Funding Information: We would like to thank Francesco DeMayo and the BCM Transgenic Mouse Core for assistance with embryo manipulations; Claire Haueter for TEM assistance; Sophia Tsai, Fred Pereira, Jang-Hyeon Cho, and Khoi Chu for helpful discussion and/or editorial comments; Dr. Roger Janz for the Sv2 antibodies; and Dr. Yoshikazy Imanishi for anti-CABP5. Funding from the NIDDK (to D.E.B.), NIH (to M.-J.T.), NIH EY04446 and EY02520, the Retina Research Foundation (Houston), the International Retinal Research Foundation, Inc., and Research to Prevent Blindness (to S.M.W.) supported this work. ",

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AU - Bramblett, Debra E.

AU - Pennesi, Mark E.

AU - Wu, Samuel M.

AU - Tsai, Ming Jer

N1 - Funding Information: We would like to thank Francesco DeMayo and the BCM Transgenic Mouse Core for assistance with embryo manipulations; Claire Haueter for TEM assistance; Sophia Tsai, Fred Pereira, Jang-Hyeon Cho, and Khoi Chu for helpful discussion and/or editorial comments; Dr. Roger Janz for the Sv2 antibodies; and Dr. Yoshikazy Imanishi for anti-CABP5. Funding from the NIDDK (to D.E.B.), NIH (to M.-J.T.), NIH EY04446 and EY02520, the Retina Research Foundation (Houston), the International Retinal Research Foundation, Inc., and Research to Prevent Blindness (to S.M.W.) supported this work.

PY - 2004/9/16

Y1 - 2004/9/16

N2 - 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.

AB - 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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The transcription factor Bhlhb4 is required for rod bipolar cell maturation

Abstract

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