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- Title
Mechanisms of trinucleotide repeat instability during human development.
- Authors
McMurray, Cynthia T
- Abstract
Trinucleotide expansion underlies several human diseases. Expansion occurs during multiple stages of human development in different cell types, and is sensitive to the gender of the parent who transmits the repeats. Repair and replication models for expansions have been described, but we do not know whether the pathway involved is the same under all conditions and for all repeat tract lengths, which differ among diseases. Currently, researchers rely on bacteria, yeast and mice to study expansion, but these models differ substantially from humans. We need now to connect the dots among human genetics, pathway biochemistry and the appropriate model systems to understand the mechanism of expansion as it occurs in human disease.
- Publication
Nature reviews. Genetics, 2010, Vol 11, Issue 11, p786
- ISSN
1471-0064
- Publication type
Journal Article
- DOI
10.1038/nrg2828