High conservation of the trinucleotide [CTG]n repeat at the myotonic dystrophy locus in nonhuman primates

G. Novelli, M. C. Carlà Campa, L. Sineo, A. Pizzuti, V. Silani, E. Pontieri, F. Sangiuolo, M. Gennarelli, G. Bernardi, B. Dallapiccola

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish
Pages (from-to)315-321
Number of pages7
JournalHuman Evolution
Volume9
Issue number4
DOIs
Publication statusPublished - Oct 1994

Keywords

  • evolution
  • Myotonic dystrophy
  • sequence analysis
  • trinucleotide repeats

ASJC Scopus subject areas

  • Genetics
  • Ecology, Evolution, Behavior and Systematics

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