Transcription Factor SOX9 Plays a Key Role in the Regulation of Visual Cycle Gene Expression in the Retinal Pigment Epithelium

This literature review offers a detailed description of the genes and proteins involved in pathophysiological processes in isolated retinitis pigmentosa (RP). To date, 84 genes and 7 candidate genes have been described for non-syndromic RP. Each of these genes encodes a protein that plays a role in vital processes in the retina and / or retinal pigment epithelium, including the cascade of phototransduction (transmission of the visual signal), the visual cycle, ciliary transport, the environment of photoreceptor cilia and the interphotoreceptor matrix. The identification and study of pathophysiological pathways affected in non-syndromic RP is important for understanding the main pathogenic ways and developing approaches to target treatment.

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In vitro models of retinal pigment epithelium (RPE): Xanthophyll uptake, metabolism and pathway‐specific gene expression

The FASEB Journal ◽

10.1096/fasebj.26.1_supplement.39.5 ◽

2012 ◽

Vol 26 (S1) ◽

Author(s):

Raju Marisiddaiah ◽

Xiaoming Gong ◽

Doris Wiener ◽

Lewis P Rubin

Keyword(s):

Gene Expression ◽

Retinal Pigment Epithelium ◽

Pigment Epithelium ◽

Retinal Pigment ◽

In Vitro Models ◽

Specific Gene ◽

Specific Gene Expression

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nacre encodes a zebrafish microphthalmia-related protein that regulates neural-crest-derived pigment cell fate

Development ◽

10.1242/dev.126.17.3757 ◽

1999 ◽

Vol 126 (17) ◽

pp. 3757-3767 ◽

Cited By ~ 40

Author(s):

J.A. Lister ◽

C.P. Robertson ◽

T. Lepage ◽

S.L. Johnson ◽

D.W. Raible

Keyword(s):

Transcription Factor ◽

Retinal Pigment Epithelium ◽

Neural Crest ◽

Cell Fate ◽

Pigment Cell ◽

Pigment Epithelium ◽

Retinal Pigment ◽

Pigment Cells ◽

Evolutionary Divergence ◽

Wild Type

We report the isolation and identification of a new mutation affecting pigment cell fate in the zebrafish neural crest. Homozygous nacre (nac(w2)) mutants lack melanophores throughout development but have increased numbers of iridophores. The non-crest-derived retinal pigment epithelium is normal, suggesting that the mutation does not affect pigment synthesis per se. Expression of early melanoblast markers is absent in nacre mutants and transplant experiments suggested a cell-autonomous function in melanophores. We show that nac(w2) is a mutation in a zebrafish gene encoding a basic helix-loop-helix/leucine zipper transcription factor related to microphthalmia (Mitf), a gene known to be required for development of eye and crest pigment cells in the mouse. Transient expression of the wild-type nacre gene restored melanophore development in nacre(−/−) embryos. Furthermore, misexpression of nacre induced the formation of ectopic melanized cells and caused defects in eye development in wild-type and mutant embryos. These results demonstrate that melanophore development in fish and mammals shares a dependence on the nacre/Mitf transcription factor, but that proper development of the retinal pigment epithelium in the fish is not nacre-dependent, suggesting an evolutionary divergence in the function of this gene.

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