Universite Louis Pasteur other research news

Researchers reported in Science the identification of a gene, X25, which when mutated causes a rare childhood neurological degenerative disease, Friedreich's ataxia (FA). The gene, on chromosome 9q13, encodes for a protein called frataxin, whose function is unknown.

The FA trinucleotide expansion is the first disease-causing mutation found in an intron, supporting previous evidence that introns influence gene expression. Introns code for sequences that are cut out of mRNA before proteins are assembled. ...