Transcription Factor Scan Identifies Genetic Cause for Inherited Blindness.

Multinational team effort of Regensburg´s Institute of Human Genetics, Washington University in St. Louis, other partners, and Genomatix elucidated a transcriptional network in photoreceptors and thereby identified a novel retinal disease gene

22-Nov-2010 - Germany

retinitis pigmentosa is an inherited eye disorder characterized by progressive loss of vision that in many instances leads to legal blindness at the end stage.

In a ChIP-Seq based approach, the researchers identified a key regulatory role of the transcription factor Crx (Cone-rod homeobox) in the expression of retina-specific genes and thus described an important genetic basis for visual perception. In-depth analysis of Crx mediated regulation in photoreceptors with latest technology provided by Genomatix lead then to the identification of nonsense mutations in the human FAM161A gene, which are responsible for RP28-associated recessive retinitis pigmentosa. The group applied the Genomatix Genome Analyzer (GGA) to evaluate data from Crx chromatin immunoprecipitation coupled to massively parallel sequencing.

Original publication: Corbo JC, Lawrence KA, Karlstetter M, Myers CA, Abdelaziz M, Dirkes W, Weigelt K, Seifert M, Benes V, Fritsche LG, Weber BH, Langmann T.; "CRX ChIP-seq reveals the cis-regulatory architecture of mouse photoreceptors."; Genome Res. 2010; 20(11):1512-25.

Langmann T, Di Gioia SA, Rau I, Stöhr H, Maksimovic NS, Corbo JC, Renner AB, Zrenner E, Kumaramanickavel G, Karlstetter M, Arsenijevic Y, Weber BH, Gal A, Rivolta C.; "Nonsense mutations in FAM161A cause RP28-associated recessive retinitis pigmentosa."; Am J Hum Genet. 2010; 87(3):376-81.

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