| Literature DB >> 9827805 |
P S Sarkar1, H C Chang, F B Boudi, S Reddy.
Abstract
Trinucleotide repeats in human genetic disorders showing anticipation follow two inheritance patterns as a function of length. Inheritance of 35-50 repeats show incremental changes, while tracts greater than 80 repeats show large saltatory expansions. We describe a bacterial system that recapitulates this striking bimodal pattern of CTG amplification. Incremental expansions predominate in CTG tracts < Okazaki fragment size, while saltatory expansions increase in repeat tracts > or = Okazaki fragment size. CTG amplification requires loss of SbcC, a protein that modulates cleavage of single-stranded DNA and degradation of duplex DNA from double-strand breaks. These results suggest that noncanonical single strand-containing secondary structures in Okazaki fragments and/or double-strand breaks in repeat tracts are intermediates in CTG amplification.Entities:
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Year: 1998 PMID: 9827805 DOI: 10.1016/s0092-8674(00)81620-7
Source DB: PubMed Journal: Cell ISSN: 0092-8674 Impact factor: 41.582