Chapter

Retinal Degenerative Diseases

Volume 572 of the series Advances in Experimental Medicine and Biology pp 155-161

A Role for bHLH Transcription Factors in Retinal Degeneration and Dysfunction

  • Mark E. PennesiAffiliated withDepartment of Ophthalmology, Baylor College of Medicine
  • , Debra E. BramblettAffiliated withDepartment of Molecular and Cellular Biology, Baylor College of Medicine
  • , Jang-Hyeon ChoAffiliated withDepartment of Molecular and Cellular Biology, Baylor College of Medicine
  • , Ming-Jer TsaiAffiliated withDepartment of Molecular and Cellular Biology, Baylor College of Medicine
  • , Samuel M. WuAffiliated withDepartment of Ophthalmology, Baylor College of Medicine

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Abstract

The basic helix loop helix (bHLH) transcription factors collectively mediate cellular differentiation in almost every type of tissue including the retina (Murre et al. 1989; Jan and Jan 1993; Cepko 1999). Class A factors are ubiquitously expressed throughout mammalian tissue, while the expression of class B factors are cell type specific. These factors have both a DNA binding domain and helix loop helix domain (HLH) protein dimerization domain. Class B factors usually heterodimerize with the ubiquitously expressed, bHLH factors, such as E12/E47. Because of their importance during photoreceptor development, bHLH factors are candidate genes for photoreceptor degeneration. We have examined the roles of two bHLH factors, both which are expressed during retinal development, but also share the property of continued expression in the adult retina.