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:4/13/2017)... UBM,s Advanced Design and Manufacturing event in ... and evolving technology through its 3D Printing and Smart ... the expo portion of the event and feature a ... on trending topics within 3D printing and smart manufacturing. ... will take place June 13-15, 2017 at the Jacob K. ...
(Date:4/11/2017)... , April 11, 2017 NXT-ID, Inc. ... technology company, announces the appointment of independent Directors Mr. ... to its Board of Directors, furthering the company,s corporate governance ... Gino ... we look forward to their guidance and benefiting from their ...
(Date:4/4/2017)... April 4, 2017   EyeLock LLC , a ... the United States Patent and Trademark Office (USPTO) has ... the linking of an iris image with a face ... represents the company,s 45 th issued patent. ... very timely given the multi-modal biometric capabilities that have ...
Breaking Biology News(10 mins):
(Date:10/11/2017)... ... October 11, 2017 , ... The CRISPR-Cas9 ... enabling overexpression experiments and avoiding the use of exogenous expression plasmids. The simplicity ... for performing systematic gain-of-function studies. , This complement to loss-of-function studies, such ...
(Date:10/11/2017)... LAGUNA HILLS, Calif. , Oct. 11, 2017  SkylineDx ... London (ICR) and University of Leeds ... to risk-stratify patients with multiple myeloma (MM), in a multi-centric ... The University of Leeds is the ... UK, and ICR will perform the testing services to include ...
(Date:10/10/2017)... ... October 10, 2017 , ... ... conjugate (ADC) therapeutics, today confirmed licensing rights that give it exclusive global ... technology developed in collaboration with Children’s Hospital Los Angeles (CHLA). Additionally, ...
(Date:10/10/2017)... (PRWEB) , ... October 10, 2017 , ... ... innovation and business process optimization firm for the life sciences and healthcare industries, ... conference in San Francisco. , The presentation, “Automating GxP Validation for Agile ...
Breaking Biology Technology:
Cached News: