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Human Molecular Genetics, 2003, Vol. 12, No. 9 1021-1028
DOI: 10.1093/hmg/ddg111
© 2003 Oxford University Press

Candidate DNA replication initiation regions at human trinucleotide repeat disease loci

Taurai Nenguke1, Mirit I. Aladjem2, James F. Gusella3, Nancy S. Wexler, The Venezuela HD Project4 and Norman Arnheim1,*

1Program in Molecular and Computational Biology, University of Southern California, Los Angeles, CA 90089-1340, USA, 2Laboratory of Molecular Pharmacology, National Cancer Institute, Bethesda, MD 20892, USA, 3Department of Psychiatry, Molecular Neurogenetics Unit, Massachusetts General Hospital, Charlestown MA 02129, USA and 4Department of Neurology, College of Physicians and Surgeons, Columbia University and the Hereditary Disease Foundation, New York, NY 10032, USA

Received December 19, 2002; Accepted February 24, 2003

The positions of DNA replication initiation regions (IRs) at three human trinucleotide repeat (TNR) disease loci were examined in order to characterize the role played by IRs in explaining the known locus-specific variation in TNR instability levels. Using three different normal cell lines, candidate IRs were identified at the HD, SCA-7 and SBMA loci. At each locus the IR is less than 3.6 kb from the CAG/CTG repeat tract. Preliminary studies with a cell line homozygous for an HD disease mutation indicated no change in the position of the candidate IR in spite of the mutation. Comparison with experimental results from model systems suggests that a complex relationship may exist between instability and the proximity and/or orientation of the repeats with respect to an IR.

* To whom correspondence should be addressed. Email: arnheim{at}usa.edu


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