Myotonic dystrophy is due to instability of a [CTG] repeat in the myotonin-protein kinase gene. We have sequenced the complete 3′ untranslated region of this gene which contains the repeat, in seven nonhuman primates. We found that the genomic organisation was conserved, suggesting that this region has important regulatory functions. These data also argue that the human state is derived from a primate ancestor in which the mutational event did not involve the loss of cryptic sequences interrupting or surrounding the repeat, but likely affected only the original length of the repeat.
- Myotonic dystrophy
- sequence analysis
- trinucleotide repeats
ASJC Scopus subject areas
- Ecology, Evolution, Behavior and Systematics