Triplet repeats and human disease.
In recent years a new mechanism of genetic disease has been discovered in which triplet DNA sequences (trinucleotides) expand either to interrupt or to compromise a gene. So far, ten genetic loci have been identified in which this event takes place. The presence of these expansions, sometimes containing thousands of repeated trinucleotides, provides a clue as to how processing of DNA and RNA may sometimes go awry. How this expansion in a single allele may exert a dominant effect and how the extent of the expansion increases the severity of the disease remain a mystery.
Singer
R H
RH
Department of Cell Biology, University of Massachusetts Medical School, Worcester 01655, USA. rhsinger@insitu.ummed.edu
D000818:Animals; D004194:Disease / Q000209:etiology*; D005544:Forecasting; D006801:Humans; D012323:RNA Processing, Post-Transcriptional; D012723:Sex; D018911:Trinucleotide Repeats