HOME >> BIOLOGY >> NEWS
Blindness Linked To The Cytoskeleton?

sed Nuclear Element). These genome ‘free-riders’ have the capacity to copy themselves occasionally from one location to another. During evolution, they have colonized the human DNA in a considerable number: about 60,000 copies reside in the human genome. In this particular case, it seemed that the insertion process had disrupted the function of the RP2 gene.

Simple sequence determination around the integration site failed to give a hint for a disrupted gene; also searching physical and electronic libraries for transcribed sequences (cDNA) around the integration site failed to succeed. Therefore, lead author Uwe Schwahn and his co-workers decided to use an alternative method called ‘exon trapping’. This is an artificial transcription system that identifies protein coding DNA stretches (exons) from a genomic DNA source. The advantage now was that this approach was independent of tissue type and transcription level of the gene in question (libraries of transcribed sequences are often made from a specific tissue and always represent only the sufficiently transcribed genes).

Indeed, the breakthrough came from such a trapped exon that showed significant homology to a transcribed sequence in the database and finally identified the full length transcript of the RP2 gene in a cDNA library. Seven out of 38 patients with X-chromosomal RP showed mutations in this new gene, which has homology to cofactor C, a protein known to play a role in beta-tubulin folding. Tubulins build up the skeleton of cells, and assure internal cellular transport as well as cell division. If this homology turns out to be of functional relevance, then RP2 is the first example of hereditary blindness where a malfunction of the cytoskeleton forms the basis of premature cell death in the retina.


'"/>

Contact: Wolfgang Berger
berger@mpimg-berlin-dahlem.mpg.de
49-30-8413-1253
Max-Planck-Gesellschaft
4-Aug-1998


Page: 1 2 3 4

Related biology news :

1. Research to Prevent Blindness awards $4.8 million
2. Ribozymes To The Rescue: New UF Gene Therapy Shows Promise For Treatment Of Inherited Blindness
3. Genetic Clue Found To The Leading Cause Of Blindness In The United States
4. Scientists Identify Key Protein Involved In Progressive Blindness
5. UNMC, Boys Town National Research Hospital Researchers Locate Gene That Causes Combined Deafness And Blindness
6. New Retinal Surgery May Reverse Legal Blindness
7. Dog Blindness Gene May Help Humans
8. Alzheimers Disease And Developmental Biology Linked Through Single Molecule
9. Role Of Protein Linked To Colon Cancer Identified, Offering Potential Target For Therapy
10. Seattle Researchers Zero In On Location Of Gene For Inherited Prostate Cancer; Gene Also Linked To Brain Cancer
11. Genetic Mutations Linked To Rare Metabolic Disease

Post Your Comments:
*Name:
*Comment:
*Email:


(Date:4/11/2017)... Research and Markets has announced the addition of the "Global ... ... at a CAGR of 30.37% during the period 2017-2021. ... based on an in-depth market analysis with inputs from industry experts. ... the coming years. The report also includes a discussion of the ...
(Date:4/6/2017)... Forecasts by Product Type (EAC), ... End-Use (Transportation & Logistics, Government & Public Sector, Utilities ... Generation Facility, Nuclear Power), Industrial, Retail, Business Organisation (BFSI), ... you looking for a definitive report on the $27.9bn ... ...
(Date:4/5/2017)... , April 4, 2017 KEY FINDINGS ... to expand at a CAGR of 25.76% during the ... is the primary factor for the growth of the ... https://www.reportbuyer.com/product/4807905/ MARKET INSIGHTS The global stem ... technology, application, and geography. The stem cell market of ...
Breaking Biology News(10 mins):
(Date:10/11/2017)... LINDA, CA (PRWEB) , ... October 11, 2017 ... ... to upregulate any gene in its endogenous context, enabling overexpression experiments and avoiding ... (CRISPRa) system with small RNA guides is transformative for performing systematic gain-of-function studies. ...
(Date:10/11/2017)... HILLS, Calif. , Oct. 11, 2017  SkylineDx today ... (ICR) and University of Leeds ... risk-stratify patients with multiple myeloma (MM), in a multi-centric Phase ... University of Leeds is the sponsor ... and ICR will perform the testing services to include high-risk ...
(Date:10/10/2017)... Angeles, CA (PRWEB) , ... ... ... Inc., a development-stage cancer-focused pharmaceutical company advancing targeted antibody-drug conjugate (ADC) therapeutics, ... uses of targeted HPLN (Hybrid Polymerized Liposomal Nanoparticle), a technology developed in ...
(Date:10/10/2017)... ... October 10, 2017 , ... USDM Life Sciences , ... life sciences and healthcare industries, announces a presentation by Subbu Viswanathan and Jennifer ... “Automating GxP Validation for Agile Cloud Platforms,” will present a revolutionary approach to ...
Breaking Biology Technology:
Cached News: