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:4/28/2016)... -- First quarter 2016:   , Revenues ... first quarter of 2015 The gross margin was 49% ... and the operating margin was 40% (-13) Earnings per ... from operations was SEK 249.9 M (21.2) , Outlook ... 7,000-8,500 M. The operating margin for 2016 is estimated ...
(Date:4/15/2016)... -- Research and Markets has announced the ...  report to their offering.  ,      ... gait biometrics market is expected to grow at ... Gait analysis generates multiple variables such ... compute factors that are not or cannot be ...
(Date:3/29/2016)... Florida , March 29, 2016 ... the "Company") LegacyXChange "LEGX" and SelectaDNA/CSI Protect are pleased ... in ink used in a variety of writing instruments, ... Buyers of originally created collectibles from athletes on LegacyXChange ... forensic analysis of the DNA. Bill ...
Breaking Biology News(10 mins):
(Date:6/24/2016)... Brooklyn, NY (PRWEB) , ... June 24, 2016 , ... ... 15mm, machines such as the Cary 5000 and the 6000i models are higher end ... height is the height of the spectrophotometer’s light beam from the bottom of the ...
(Date:6/23/2016)... , June 23, 2016 /PRNewswire/ - FACIT ... Ontario biotechnology company, Propellon Therapeutics ... development and commercialization of a portfolio of first-in-class ... Epigenetic targets such as WDR5 represent an exciting ... significantly in precision medicine for cancer patients. Substantial ...
(Date:6/23/2016)... June, 23, 2016  The Biodesign Challenge (BDC), a ... ways to harness living systems and biotechnology, announced its ... in New York City . ... students, showcased projects at MoMA,s Celeste Bartos Theater during ... , MoMA,s senior curator of architecture and design, and ...
(Date:6/23/2016)... 2016 Apellis Pharmaceuticals, Inc. today announced ... of its complement C3 inhibitor, APL-2. The trials ... dose studies designed to assess the safety, tolerability, ... in healthy adult volunteers. Forty subjects ... single dose (ranging from 45 to 1,440mg) or ...
Breaking Biology Technology: