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

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