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:3/29/2017)... 29, 2017  higi, the health IT company that ... North America , today announced a Series B ... of EveryMove. The new investment and acquisition accelerates higi,s ... to transform population health activities through the collection and ... higi collects and secures data today on behalf ...
(Date:3/27/2017)... 2017  Catholic Health Services (CHS) has been ... (HIMSS) Analytics for achieving Stage 6 on the ... In addition, CHS previously earned a place in ... electronic medical record (EMR). "HIMSS Analytics ... EMR usage in an outpatient setting.  This recognition ...
(Date:3/24/2017)... -- Research and Markets has announced the addition of ... - Industry Forecast to 2025" report to their offering. ... The Global Biometric Vehicle ... around 15.1% over the next decade to reach approximately $1,580 million ... estimates and forecasts for all the given segments on global as ...
Breaking Biology News(10 mins):
(Date:8/10/2017)... ... , ... Each year in the United States more than 300,000 people are ... lifestyle and, even worse, the one-year mortality rate is high, ranging from 12 percent ... California Davis Medical Center (Sacramento) and Second Xiangya Hospital of the Central-South University (Hunan, ...
(Date:8/10/2017)... ... August 09, 2017 , ... SPIE, the ... laboratories — the Wellman Center for Photomedicine, the Manstein Lab in the Cutaneous ... Beckman Laser Institute at University of California, Irvine — and the Hillenkamp family ...
(Date:8/10/2017)... ... August 10, 2017 , ... SPIE, the international ... as its exclusive sales representative for SPIE Journals in Japan. Kinokuniya has a ... Library in Japan. , “We look forward to expanding our relationship with Kinokuniya ...
(Date:8/10/2017)... , ... August 10, 2017 , ... ... the AptaFluor SAH Methyltransferase Assay , an enabling new high throughput screening ... pathways that drive cancer and other debilitating diseases. , Chemical modification of gene ...
Breaking Biology Technology: