Japan 2 Sapporo Medical University School of Health Science, South 1 West 16, Chuo-ku, Sapporo 060, Japan S u m m a r y Myotonic dystrophy (DM) is caused by an abnormal expansion of an unstable CTG trinucleotide repeat in the 3" untranslated region of mRNA encoding a putative serine/th...
A new form of error-prone repair was detected whereby excess repeats were incompletely excised, constituting a previously unknown path to generate expansions but not deletions. Neuron-like cell extracts yielded each of the three repair outcomes, supporting a role for these processes in (CTG)•(...
Journal of Medical GeneticsC. Spits, S. Seneca, P. Hilven, I. Liebaers, K. Sermon, Methylation of the CpG sites in the myotonic dystrophy locus does not correlate with CTG expansion size or with the congenital form of the disease, J. Med. Genet. 47 (2010) 700-703....
Download: Download full-size image Fig. 4. Secondary structure dynamics and trinucleotide repeat (TNR) instability. During replication (a) CAG•CTG repeats (red lines) could form unstructured extrusions loops (b) or hairpin structures (b′) that may cause DNA slippage (c and c′), leading ...