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Protein Pages
Transcription Factors

Recent update from: 10.8.1999


Transcription factors are proteins. They recognise and bind to sequences upstream of a gene (promoter elements). Each transcription factor binds to factor-specific promoter elements. Gene expression is initiated by a tissue and gene specific follow up of promoter elements. A set of transcription factors bind to the promoter elements of the gene. The transcription machinery is now able to bind to and start the transcription of the gene. Some transcription factors form heterodimers with other transcription factors.
Transcription factors involved in retinal disorders are the Cone Rod Homeobox Gene (CRX) and the Neuroretina-linked Leucine Zipper . Both are involved in autosomal dominant retinal disorders

References
  1. Bessant,D.A., Payne,A.M., Mitton,K.P., Wang,Q.L., Swain,P.K., Plant,C., Bird,A.C., Zack,D.J., Swaroop,A., and Bhattacharya,S.S. A mutation in NRL is associated with autosomal dominant retinitis pigmentosa. 1999; Nat.Genet. 21: 355-356.
    Link to PubMed
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  2. Freund,C.L., Gregory Evans,C.Y., Furukawa,T., Papaioannou,M., Looser,J., Ploder,L., Bellingham,J., Ng,D., Herbrick,J.A., Duncan,A., Scherer,S.W., Tsui,L.C., Loutradis Anagnostou,A., Jacobson,S.G., Cepko,C.L., Bhattacharya,S.S., and McInnes,R.R. Cone-rod dystrophy due to mutations in a novel photoreceptor- specific homeobox gene (CRX) essential for maintenance of the photoreceptor. 1997; Cell. 91: 543-553.
    Link to PubMed
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  3. Freund,C.L., Wang,Q.L., Chen,S., Muskat,B.L., Wiles,C.D., Sheffield,V.C., Jacobson,S.G., McInnes,R.R., Zack,D.J., and Stone,E.M. De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis. 1998; Nat.Genet. 18: 311-312.
    Link to PubMed
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  4. Sohocki,M.M., Sullivan,L.S., Mintz-Hittner,H.A., Birch,D., Heckenlively,J.R., Freund,C.L., McInnes,R.R., and Daiger,S.P. A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene. 1998; Am.J.Hum.Genet. 63: 1307-1315.
    Link to PubMed
    Goto Top


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This site is maintained and edited by
Dr. rer. medic. Markus Preising, Dipl.Biol.
Molecular Genetics Laboratory
Department of Paediatric Ophthalmology, Strabismology and Ophthalmogenetics
University of Regensburg
Head: Prof. Dr. med. Birgit Lorenz