Navigation Links
Transcription factor scan identifies genetic cause for inherited blindness
Date:11/18/2010

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. Leading investigator Prof. Thomas Langmann states: "The continous fruitful collaboration with Dr. Martin Seifert from Genomatix and the power of the GGA allowed us to pinpoint several thousands of target genes for the retinal transcription factor Crx. The GGA workflow is very intuitive and implements all required tools for high level analysis of massively parallel sequencing data. We were lucky to have the Genomatix platform, which allowed us to move forward rapidly. In depth analysis of the ChIP-Seq data then allowed us to define the Crx-target gene FAM161A as the genetic cause of Retinitis Pigmentosa Type 28. We and our partners in the US fully rely on Genomatix when it comes to NGS data analysis and transcription factor biology".

Dr. Martin Seifert, member of Genomatix managing directors board says: "The scientific excellence and outstanding collaboration in this trans-continental research effort was an a very pleasant experience. I am extremely happy that our technology could help to gain new insights into this relevant disease mechanism. Better understanding is the first step towards better diagnosis and opens perspectives for a potential therapy. But this is still a long way to go."


'/>"/>

Contact: Martin Seifert
seifert@genomatix.de
49-895-997-660
Genomatix Software GmbH
Source:Eurekalert

Related biology news :

1. Early-stage gene transcription creates access to DNA
2. CSHL scientists discover new way in which ubiquitin modifies transcriptional machinery
3. Rewrite the textbooks: Transcription is bidirectional
4. ISU researcher identifies key function in protein, cell transcription
5. How RNA polymerase II gets the go-ahead for gene transcription
6. UM scientists demonstrate role of RNA polymerase in gene transcription
7. Making flies sick reveals new role for growth factors in immunity
8. Grapes may aid a bunch of heart risk factors, animal study finds
9. Female embryonic sexual development driven by universal factor
10. Genetic risk factors may tailor prostate cancer screening approaches
11. Exercise increases brain growth factor and receptors, prevents stem cell drop in middle age
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:11/22/2016)... 22, 2016   MedNet Solutions , an innovative ... of clinical research, is pleased to announce that the ... and Life Sciences Awards as "Most Outstanding in ... unprecedented year of recognition and growth for MedNet, which ... years. iMedNet ™ , MedNet,s ...
(Date:11/17/2016)... Market Watch: Primarily supported by ownership types; Private ... market is to witness a value of US$37.1 billion by ... Annual Growth Rate (CAGR) of 10.75% is foreseen from ... North America is not way behind ... at 9.56% respectively. Report Focus: The ...
(Date:11/15/2016)... , Nov. 15, 2016  Synthetic Biologics, ... developing therapeutics focused on the gut microbiome, today ... of 25,000,000 shares of its common stock and ... stock at a price to the public of ... to Synthetic Biologics from the offering, excluding the ...
Breaking Biology News(10 mins):
(Date:12/5/2016)... ... December 05, 2016 , ... The Real Dirt ... premier cannabis technology and application experts, Chip Baker. Chip Baker formerly co-founded Royal ... the past 30 years, Chip Baker other industry veterans have made the evolution ...
(Date:12/5/2016)... CHICAGO , December 5, 2016 ... report, "Cell Expansion Market, by Products (Consumable, Instruments, ... Applications (Regenerative Medicine and Stem Cell Research, Cancer, ... Research Institutes, Cell Banks) - Global Revenue, Trends, ... by Scalar Market Research, the global cell expansion ...
(Date:12/5/2016)... - Resverlogix Corp. ("Resverlogix" or the "Company") (TSX:RVX) ... Monitoring Board (DSMB) for the Company,s Phase 3 ... has completed a second planned safety review and ... without any modifications. The DSMB reviewed available study ... concerns were identified. The DSMB will conduct additional ...
(Date:12/5/2016)... Dec. 5, 2016  Eisai Inc. announced today ... study of rufinamide, which were presented at the ... (AES) held from December 2-6 in ... safety, tolerability and cognitive data showed that patients ... safety and tolerability profiles, cognitive development and behavior, ...
Breaking Biology Technology: